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    MCTP1 multiple C2 and transmembrane domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79772, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MCTP1provided by HGNC
    Official Full Name
    multiple C2 and transmembrane domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26183
    See related
    Ensembl:ENSG00000175471 MIM:616296; AllianceGenome:HGNC:26183
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables calcium ion binding activity. Predicted to be involved in several processes, including modulation of chemical synaptic transmission; negative regulation of endocytosis; and negative regulation of response to oxidative stress. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 4.3), fat (RPKM 3.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCTP1 in Genome Data Viewer
    Location:
    5q15
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (94703690..95285094, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (95188075..95786099, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (94039395..94620798, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene KIAA0825 Neighboring gene FAST kinase domains 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:93953323-93954187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:93968657-93969156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22793 Neighboring gene SMC5-SMC6 complex localization factor 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:94128945-94130144 Neighboring gene ribosomal protein L7 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22795 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:94365679-94365868 Neighboring gene MCTP1 antisense RNA 1 Neighboring gene MPRA-validated peak5358 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22797 Neighboring gene uncharacterized LOC105379085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16181 Neighboring gene uncharacterized LOC105379089 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:94728230-94729087 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:94775487-94776419 Neighboring gene family with sequence similarity 81 member B Neighboring gene RTRAF pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. MCTP1 increases the malignancy of androgen-deprived prostate cancer cells by inducing neuroendocrine differentiation and EMT. Liu YN, et al. Sci Signal, 2024 Jun 11. PMID 38861615
    2. The DNA methylation-regulated MCTP1 activates the drug-resistance of esophageal cancer cells. Kong L, et al. Aging (Albany NY), 2021 Feb 11. PMID 33571139, Free PMC Article
    3. Multiple C2 domain-containing transmembrane proteins promote lipid droplet biogenesis and growth at specialized endoplasmic reticulum subdomains. Joshi AS, et al. Mol Biol Cell, 2021 Jun 1. PMID 33826368, Free PMC Article
    4. Multiple C2 domains transmembrane protein 1 is expressed in CNS neurons and possibly regulates cellular vesicle retrieval and oxidative stress. Qiu L, et al. J Neurochem, 2015 Nov. PMID 26195140
    5. A genome wide association study of fast beta EEG in families of European ancestry. Meyers JL, et al. Int J Psychophysiol, 2017 May. PMID 28040410, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MCTP1 increases the malignancy of androgen-deprived prostate cancer cells by inducing neuroendocrine differentiation and EMT.
      Title: MCTP1 increases the malignancy of androgen-deprived prostate cancer cells by inducing neuroendocrine differentiation and EMT.
    2. Multiple C2 domain-containing transmembrane proteins promote lipid droplet biogenesis and growth at specialized endoplasmic reticulum subdomains.
      Title: Multiple C2 domain-containing transmembrane proteins promote lipid droplet biogenesis and growth at specialized endoplasmic reticulum subdomains.
    3. The DNA methylation-regulated MCTP1 activates the drug-resistance of esophageal cancer cells.
      Title: The DNA methylation-regulated MCTP1 activates the drug-resistance of esophageal cancer cells.
    4. This Gene-based tests suggest evidence of association with related genes, ZEB2, RND3, MCTP1, CTBP2, and beta EEG.
      Title: A genome wide association study of fast beta EEG in families of European ancestry.
    5. MCTP1 was observed on synaptic vesicles in neuronal cell bodies and pre-synaptic axon terminals.
      Title: Multiple C2 domains transmembrane protein 1 is expressed in CNS neurons and possibly regulates cellular vesicle retrieval and oxidative stress.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. MCTPs are evolutionarily conserved C2 domain proteins that are unusual in that the C2 domains are anchored in the membrane by two closely spaced transmembrane regions and represent Ca(2+)-binding but not phospholipid-binding modules
      Title: Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22344

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables calcium-dependent phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium-mediated signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neuronal synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neurotransmitter secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recycling endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    multiple C2 and transmembrane domain-containing protein 1
    Names
    multiple C2 domains, transmembrane 1
    multiple C2-domains with two transmembrane regions 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001002796.5 → NP_001002796.1  multiple C2 and transmembrane domain-containing protein 1 isoform S

      See identical proteins and their annotated locations for NP_001002796.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding sequence compared to variant 1. The resulting isoform (S) is shorter and has a distinct N-terminus compared to isoform L.
      Source sequence(s)
      AC008534, AC012312, AC099507
      Consensus CDS
      CCDS47247.1
      UniProtKB/TrEMBL
      D6RA42
      Related
      ENSP00000308957.8, ENST00000312216.12
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:250 → 365
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:405 → 523
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:666 → 751
      PRT_C; Plant phosphoribosyltransferase C-terminal

    2. NM_001297777.3 → NP_001284706.1  multiple C2 and transmembrane domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001284706.1

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      Consensus CDS
      CCDS75275.1
      UniProtKB/TrEMBL
      D6RA42
      Related
      ENSP00000391639.2, ENST00000429576.6
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:204 → 319
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:359 → 477
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:580 → 665
      PRT_C; Plant phosphoribosyltransferase C-terminal

    3. NM_001393535.1 → NP_001380464.1  multiple C2 and transmembrane domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC008573, AC012312, AC099507
      Conserved Domains (4) summary
      cd04042
      Location:262 → 383
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:445 → 560
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:600 → 718
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:861 → 946
      PRT_C; Plant phosphoribosyltransferase C-terminal

    4. NM_001393536.1 → NP_001380465.1  multiple C2 and transmembrane domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC008573, AC012312, AC099507
      Conserved Domains (4) summary
      cd04042
      Location:262 → 383
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:425 → 540
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:580 → 698
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:841 → 926
      PRT_C; Plant phosphoribosyltransferase C-terminal

    5. NM_001393537.1 → NP_001380466.1  multiple C2 and transmembrane domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC008573, AC012312, AC099507
      Conserved Domains (4) summary
      cd04042
      Location:262 → 383
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:412 → 527
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:567 → 685
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:828 → 913
      PRT_C; Plant phosphoribosyltransferase C-terminal

    6. NM_001393538.1 → NP_001380467.1  multiple C2 and transmembrane domain-containing protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:250 → 365
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:405 → 523
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:666 → 751
      PRT_C; Plant phosphoribosyltransferase C-terminal

    7. NM_001393539.1 → NP_001380468.1  multiple C2 and transmembrane domain-containing protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:224 → 339
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:379 → 497
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:640 → 725
      PRT_C; Plant phosphoribosyltransferase C-terminal

    8. NM_001393540.1 → NP_001380469.1  multiple C2 and transmembrane domain-containing protein 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:250 → 365
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:405 → 523
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:626 → 711
      PRT_C; Plant phosphoribosyltransferase C-terminal

    9. NM_001393541.1 → NP_001380470.1  multiple C2 and transmembrane domain-containing protein 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:56 → 177
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:206 → 321
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:361 → 479
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:622 → 707
      PRT_C; Plant phosphoribosyltransferase C-terminal

    10. NM_001393542.1 → NP_001380471.1  multiple C2 and transmembrane domain-containing protein 1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:204 → 319
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:359 → 477
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:620 → 705
      PRT_C; Plant phosphoribosyltransferase C-terminal

    11. NM_001393543.1 → NP_001380472.1  multiple C2 and transmembrane domain-containing protein 1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:204 → 319
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:359 → 477
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:620 → 705
      PRT_C; Plant phosphoribosyltransferase C-terminal

    12. NM_001393544.1 → NP_001380473.1  multiple C2 and transmembrane domain-containing protein 1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:191 → 306
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:346 → 464
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:607 → 692
      PRT_C; Plant phosphoribosyltransferase C-terminal

    13. NM_001393545.1 → NP_001380474.1  multiple C2 and transmembrane domain-containing protein 1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:189 → 304
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:344 → 462
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:605 → 690
      PRT_C; Plant phosphoribosyltransferase C-terminal

    14. NM_001393546.1 → NP_001380475.1  multiple C2 and transmembrane domain-containing protein 1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:217 → 332
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:372 → 490
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:593 → 678
      PRT_C; Plant phosphoribosyltransferase C-terminal

    15. NM_001393547.1 → NP_001380476.1  multiple C2 and transmembrane domain-containing protein 1 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:211 → 326
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:366 → 484
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:587 → 672
      PRT_C; Plant phosphoribosyltransferase C-terminal

    16. NM_001393548.1 → NP_001380477.1  multiple C2 and transmembrane domain-containing protein 1 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:204 → 319
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:359 → 477
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:580 → 636
      PRT_C; Plant phosphoribosyltransferase C-terminal

    17. NM_001393549.1 → NP_001380478.1  multiple C2 and transmembrane domain-containing protein 1 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      Consensus CDS
      CCDS93747.1
      Related
      ENSP00000426438.1, ENST00000505208.5
      Conserved Domains (3) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:250 → 365
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:405 → 523
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)

    18. NM_001393550.1 → NP_001380479.1  multiple C2 and transmembrane domain-containing protein 1 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      Conserved Domains (3) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:204 → 319
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:359 → 448
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)

    19. NM_001393551.1 → NP_001380480.1  multiple C2 and transmembrane domain-containing protein 1 isoform 20

      Status: VALIDATED

      Source sequence(s)
      AC008534, AC012312, AC099507
      Conserved Domains (2) summary
      cd04042
      Location:41 → 162
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:205 → 290
      PRT_C; Plant phosphoribosyltransferase C-terminal

    20. NM_024717.7 → NP_078993.4  multiple C2 and transmembrane domain-containing protein 1 isoform L

      See identical proteins and their annotated locations for NP_078993.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (L).
      Source sequence(s)
      AC008534, AC008573, AC012312, AC099507
      Consensus CDS
      CCDS34203.1
      UniProtKB/Swiss-Prot
      Q6DN13, Q6DN14, Q8N2W1, Q8NBA2, Q96LX0, Q9H6E8
      Related
      ENSP00000424126.1, ENST00000515393.6
      Conserved Domains (4) summary
      cd04042
      Location:262 → 383
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:471 → 586
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:626 → 744
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:887 → 972
      PRT_C; Plant phosphoribosyltransferase C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      94703690..95285094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417718.1 → XP_047273674.1  multiple C2 and transmembrane domain-containing protein 1 isoform X11

    2. XM_047417715.1 → XP_047273671.1  multiple C2 and transmembrane domain-containing protein 1 isoform X8

    3. XM_017009858.3 → XP_016865347.2  multiple C2 and transmembrane domain-containing protein 1 isoform X3

    4. XM_017009855.3 → XP_016865344.2  multiple C2 and transmembrane domain-containing protein 1 isoform X2

    5. XM_047417716.1 → XP_047273672.1  multiple C2 and transmembrane domain-containing protein 1 isoform X9

    6. XM_047417713.1 → XP_047273669.1  multiple C2 and transmembrane domain-containing protein 1 isoform X6

    7. XM_047417714.1 → XP_047273670.1  multiple C2 and transmembrane domain-containing protein 1 isoform X7

    8. XM_047417712.1 → XP_047273668.1  multiple C2 and transmembrane domain-containing protein 1 isoform X5

    9. XM_017009859.2 → XP_016865348.2  multiple C2 and transmembrane domain-containing protein 1 isoform X4

    10. XM_047417711.1 → XP_047273667.1  multiple C2 and transmembrane domain-containing protein 1 isoform X1

    11. XM_047417738.1 → XP_047273694.1  multiple C2 and transmembrane domain-containing protein 1 isoform X32

      UniProtKB/TrEMBL
      D6RA42

    12. XM_047417737.1 → XP_047273693.1  multiple C2 and transmembrane domain-containing protein 1 isoform X31

      UniProtKB/TrEMBL
      D6RA42

    13. XM_047417731.1 → XP_047273687.1  multiple C2 and transmembrane domain-containing protein 1 isoform X25

      UniProtKB/TrEMBL
      D6RA42

    14. XM_047417735.1 → XP_047273691.1  multiple C2 and transmembrane domain-containing protein 1 isoform X29

      UniProtKB/TrEMBL
      D6RA42

    15. XM_047417729.1 → XP_047273685.1  multiple C2 and transmembrane domain-containing protein 1 isoform X23

      UniProtKB/TrEMBL
      D6RA42

    16. XM_047417728.1 → XP_047273684.1  multiple C2 and transmembrane domain-containing protein 1 isoform X22

      UniProtKB/TrEMBL
      D6RA42

    17. XM_047417730.1 → XP_047273686.1  multiple C2 and transmembrane domain-containing protein 1 isoform X24

      UniProtKB/TrEMBL
      D6RA42

    18. XM_047417725.1 → XP_047273681.1  multiple C2 and transmembrane domain-containing protein 1 isoform X18

      UniProtKB/TrEMBL
      D6RA42

    19. XM_047417736.1 → XP_047273692.1  multiple C2 and transmembrane domain-containing protein 1 isoform X30

      UniProtKB/TrEMBL
      D6RA42

    20. XM_047417733.1 → XP_047273689.1  multiple C2 and transmembrane domain-containing protein 1 isoform X27

      UniProtKB/TrEMBL
      D6RA42

    21. XM_047417732.1 → XP_047273688.1  multiple C2 and transmembrane domain-containing protein 1 isoform X26

      UniProtKB/TrEMBL
      D6RA42

    22. XM_047417726.1 → XP_047273682.1  multiple C2 and transmembrane domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      D6RA42

    23. XM_011543649.4 → XP_011541951.1  multiple C2 and transmembrane domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:3 → 124
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:212 → 327
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:367 → 485
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:628 → 713
      PRT_C; Plant phosphoribosyltransferase C-terminal

    24. XM_047417734.1 → XP_047273690.1  multiple C2 and transmembrane domain-containing protein 1 isoform X28

      UniProtKB/TrEMBL
      D6RA42

    25. XM_047417727.1 → XP_047273683.1  multiple C2 and transmembrane domain-containing protein 1 isoform X20

      UniProtKB/TrEMBL
      D6RA42

    26. XM_047417724.1 → XP_047273680.1  multiple C2 and transmembrane domain-containing protein 1 isoform X17

      UniProtKB/TrEMBL
      D6RA42

    27. XM_005272082.6 → XP_005272139.1  multiple C2 and transmembrane domain-containing protein 1 isoform X16

      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd04042
      Location:56 → 177
      C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08376
      Location:265 → 380
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:420 → 538
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:681 → 766
      PRT_C; Plant phosphoribosyltransferase C-terminal

    28. XM_011543650.3 → XP_011541952.1  multiple C2 and transmembrane domain-containing protein 1 isoform X35

      UniProtKB/TrEMBL
      D6RA42
      Conserved Domains (4) summary
      cd08376
      Location:132 → 247
      C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      cd08377
      Location:287 → 405
      C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
      pfam08372
      Location:548 → 633
      PRT_C; Plant phosphoribosyltransferase C-terminal
      cl14603
      Location:1 → 44
      C2; C2 domain

    29. XM_047417742.1 → XP_047273698.1  multiple C2 and transmembrane domain-containing protein 1 isoform X36

      UniProtKB/TrEMBL
      D6RA42
      Related
      ENSP00000423410.1, ENST00000508509.5

    30. XM_047417741.1 → XP_047273697.1  multiple C2 and transmembrane domain-containing protein 1 isoform X34

      UniProtKB/TrEMBL
      D6RA42

    31. XM_047417720.1 → XP_047273676.1  multiple C2 and transmembrane domain-containing protein 1 isoform X13

    32. XM_047417717.1 → XP_047273673.1  multiple C2 and transmembrane domain-containing protein 1 isoform X10

    33. XM_047417719.1 → XP_047273675.1  multiple C2 and transmembrane domain-containing protein 1 isoform X12

    34. XM_047417739.1 → XP_047273695.1  multiple C2 and transmembrane domain-containing protein 1 isoform X33

      UniProtKB/TrEMBL
      D6RA42

    35. XM_047417722.1 → XP_047273678.1  multiple C2 and transmembrane domain-containing protein 1 isoform X14

    36. XM_047417723.1 → XP_047273679.1  multiple C2 and transmembrane domain-containing protein 1 isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      95188075..95786099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353470.1 → XP_054209445.1  multiple C2 and transmembrane domain-containing protein 1 isoform X11

    2. XM_054353467.1 → XP_054209442.1  multiple C2 and transmembrane domain-containing protein 1 isoform X8

    3. XM_054353462.1 → XP_054209437.1  multiple C2 and transmembrane domain-containing protein 1 isoform X3

    4. XM_054353461.1 → XP_054209436.1  multiple C2 and transmembrane domain-containing protein 1 isoform X2

    5. XM_054353468.1 → XP_054209443.1  multiple C2 and transmembrane domain-containing protein 1 isoform X9

    6. XM_054353465.1 → XP_054209440.1  multiple C2 and transmembrane domain-containing protein 1 isoform X6

    7. XM_054353466.1 → XP_054209441.1  multiple C2 and transmembrane domain-containing protein 1 isoform X7

    8. XM_054353464.1 → XP_054209439.1  multiple C2 and transmembrane domain-containing protein 1 isoform X5

    9. XM_054353463.1 → XP_054209438.1  multiple C2 and transmembrane domain-containing protein 1 isoform X4

    10. XM_054353460.1 → XP_054209435.1  multiple C2 and transmembrane domain-containing protein 1 isoform X1

    11. XM_054353491.1 → XP_054209466.1  multiple C2 and transmembrane domain-containing protein 1 isoform X32

      UniProtKB/TrEMBL
      D6RA42

    12. XM_054353490.1 → XP_054209465.1  multiple C2 and transmembrane domain-containing protein 1 isoform X31

      UniProtKB/TrEMBL
      D6RA42

    13. XM_054353484.1 → XP_054209459.1  multiple C2 and transmembrane domain-containing protein 1 isoform X25

      UniProtKB/TrEMBL
      D6RA42

    14. XM_054353488.1 → XP_054209463.1  multiple C2 and transmembrane domain-containing protein 1 isoform X29

      UniProtKB/TrEMBL
      D6RA42

    15. XM_054353482.1 → XP_054209457.1  multiple C2 and transmembrane domain-containing protein 1 isoform X23

      UniProtKB/TrEMBL
      D6RA42

    16. XM_054353481.1 → XP_054209456.1  multiple C2 and transmembrane domain-containing protein 1 isoform X22

      UniProtKB/TrEMBL
      D6RA42

    17. XM_054353483.1 → XP_054209458.1  multiple C2 and transmembrane domain-containing protein 1 isoform X24

      UniProtKB/TrEMBL
      D6RA42

    18. XM_054353477.1 → XP_054209452.1  multiple C2 and transmembrane domain-containing protein 1 isoform X18

      UniProtKB/TrEMBL
      D6RA42

    19. XM_054353489.1 → XP_054209464.1  multiple C2 and transmembrane domain-containing protein 1 isoform X30

      UniProtKB/TrEMBL
      D6RA42

    20. XM_054353486.1 → XP_054209461.1  multiple C2 and transmembrane domain-containing protein 1 isoform X27

      UniProtKB/TrEMBL
      D6RA42

    21. XM_054353485.1 → XP_054209460.1  multiple C2 and transmembrane domain-containing protein 1 isoform X26

      UniProtKB/TrEMBL
      D6RA42

    22. XM_054353478.1 → XP_054209453.1  multiple C2 and transmembrane domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      D6RA42

    23. XM_054353480.1 → XP_054209455.1  multiple C2 and transmembrane domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      D6RA42

    24. XM_054353487.1 → XP_054209462.1  multiple C2 and transmembrane domain-containing protein 1 isoform X28

      UniProtKB/TrEMBL
      D6RA42

    25. XM_054353479.1 → XP_054209454.1  multiple C2 and transmembrane domain-containing protein 1 isoform X20

      UniProtKB/TrEMBL
      D6RA42

    26. XM_054353476.1 → XP_054209451.1  multiple C2 and transmembrane domain-containing protein 1 isoform X17

      UniProtKB/TrEMBL
      D6RA42

    27. XM_054353475.1 → XP_054209450.1  multiple C2 and transmembrane domain-containing protein 1 isoform X16

      UniProtKB/TrEMBL
      D6RA42

    28. XM_054353494.1 → XP_054209469.1  multiple C2 and transmembrane domain-containing protein 1 isoform X35

      UniProtKB/TrEMBL
      D6RA42

    29. XM_054353495.1 → XP_054209470.1  multiple C2 and transmembrane domain-containing protein 1 isoform X36

      UniProtKB/TrEMBL
      D6RA42

    30. XM_054353493.1 → XP_054209468.1  multiple C2 and transmembrane domain-containing protein 1 isoform X34

      UniProtKB/TrEMBL
      D6RA42

    31. XM_054353472.1 → XP_054209447.1  multiple C2 and transmembrane domain-containing protein 1 isoform X13

    32. XM_054353469.1 → XP_054209444.1  multiple C2 and transmembrane domain-containing protein 1 isoform X10

    33. XM_054353471.1 → XP_054209446.1  multiple C2 and transmembrane domain-containing protein 1 isoform X12

    34. XM_054353492.1 → XP_054209467.1  multiple C2 and transmembrane domain-containing protein 1 isoform X33

      UniProtKB/TrEMBL
      D6RA42

    35. XM_054353473.1 → XP_054209448.1  multiple C2 and transmembrane domain-containing protein 1 isoform X14

    36. XM_054353474.1 → XP_054209449.1  multiple C2 and transmembrane domain-containing protein 1 isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DN14.2 GenPept UniProtKB/Swiss-Prot:Q6DN14

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