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    TMCO5A transmembrane and coiled-coil domains 5A [ Homo sapiens (human) ]

    Gene ID: 145942, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMCO5Aprovided by HGNC
    Official Full Name
    transmembrane and coiled-coil domains 5Aprovided by HGNC
    Primary source
    HGNC:HGNC:28558
    See related
    Ensembl:ENSG00000166069 AllianceGenome:HGNC:28558
    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
    Also known as
    TMCO5
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 13.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See TMCO5A in Genome Data Viewer
    Location:
    15q14
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (37934640..38040865)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (35739894..35846092)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (38226841..38287237)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37842319-37842820 Neighboring gene ribosomal protein S15 pseudogene 8 Neighboring gene uncharacterized LOC105370773 Neighboring gene Sharpr-MPRA regulatory region 1314 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:38156188-38157387 Neighboring gene VISTA enhancer hs830 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:38364669-38365534 Neighboring gene long intergenic non-protein coding RNA 2345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6298 Neighboring gene long intergenic non-protein coding RNA 1852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9200 Neighboring gene Sharpr-MPRA regulatory region 4108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6304 Neighboring gene MPRA-validated peak2297 silencer Neighboring gene sprouty related EVH1 domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A membrane protein, TMCO5A, has a close relationship with manchette microtubules in rat spermatids during spermiogenesis. Kaneko T, et al. Mol Reprod Dev, 2019 Mar. PMID 30632224
    2. Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles. Bauerschlag DO, et al. Oncology, 2011. PMID 21577013
    3. Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray. Lanktree MB, et al. Stroke, 2009 Oct. PMID 19679847
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Longer survival was associated with hypomethylation at specific CpG sites (e.g. GREB1, TGIF and TOB1) and hypermethylation in other genes (e.g. TMCO5, PTPRN and GUCY2C).
      Title: Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray.
    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

    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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    Homology

    Clone Names

    • FLJ35807, MGC35118

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane and coiled-coil domain-containing protein 5A
    Names
    testicular tissue protein Li 205
    transmembrane and coiled-coil domains 5

    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.

    Genomic

    1. NG_052635.2 RefSeqGene

      Range
      5002..21784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330255.2 → NP_001317184.1  transmembrane and coiled-coil domain-containing protein 5A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC091005, AK093126
      Consensus CDS
      CCDS81862.1
      UniProtKB/TrEMBL
      H0YL40
      Related
      ENSP00000454112.1, ENST00000559502.5
      Conserved Domains (1) summary
      pfam14992
      Location:15 → 223
      TMCO5; TMCO5 family

    2. NM_001370735.1 → NP_001357664.1  transmembrane and coiled-coil domain-containing protein 5A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC091005
      Consensus CDS
      CCDS10046.1
      UniProtKB/Swiss-Prot
      Q8N6Q1, Q8NA63
      UniProtKB/TrEMBL
      A0A024R9I9
      Conserved Domains (1) summary
      pfam14992
      Location:15 → 287
      TMCO5; TMCO5 family

    3. NM_001370736.1 → NP_001357665.1  transmembrane and coiled-coil domain-containing protein 5A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC091005
      Conserved Domains (1) summary
      pfam14992
      Location:29 → 301
      TMCO5; TMCO5 family

    4. NM_001370737.1 → NP_001357666.1  transmembrane and coiled-coil domain-containing protein 5A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC091005
      Conserved Domains (1) summary
      pfam14992
      Location:15 → 223
      TMCO5; TMCO5 family

    5. NM_152453.4 → NP_689666.2  transmembrane and coiled-coil domain-containing protein 5A isoform 1

      See identical proteins and their annotated locations for NP_689666.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC029221, BI561792, BI826726
      Consensus CDS
      CCDS10046.1
      UniProtKB/Swiss-Prot
      Q8N6Q1, Q8NA63
      UniProtKB/TrEMBL
      A0A024R9I9
      Related
      ENSP00000327234.4, ENST00000319669.5
      Conserved Domains (1) summary
      pfam14992
      Location:15 → 287
      TMCO5; TMCO5 family

    RNA

    1. NR_163584.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091005

    2. NR_163585.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC091005

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      37934640..38040865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432176.1 → XP_047288132.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

    2. XM_047432177.1 → XP_047288133.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

    3. XM_011521262.3 → XP_011519564.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

      Conserved Domains (1) summary
      pfam14992
      Location:15 → 223
      TMCO5; TMCO5 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      35739894..35846092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377338.1 → XP_054233313.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

    2. XM_054377339.1 → XP_054233314.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

    3. XM_054377340.1 → XP_054233315.1  transmembrane and coiled-coil domain-containing protein 5A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6Q1.2 GenPept UniProtKB/Swiss-Prot:Q8N6Q1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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