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    TCTE1 t-complex-associated-testis-expressed 1 [ Homo sapiens (human) ]

    Gene ID: 202500, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TCTE1provided by HGNC
    Official Full Name
    t-complex-associated-testis-expressed 1provided by HGNC
    Primary source
    HGNC:HGNC:11693
    See related
    Ensembl:ENSG00000146221 MIM:186975; AllianceGenome:HGNC:11693
    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
    DRC5; D6S46; FAP155
    Summary
    Predicted to be involved in flagellated sperm motility. Predicted to be located in sperm flagellum. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 12.5) See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See TCTE1 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44278734..44297698, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44112859..44131845, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44246471..44265435, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44222709-44223424 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:44224854-44225567 Neighboring gene microRNA 4647 Neighboring gene solute carrier family 35 member B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44232415-44232914 Neighboring gene NFKB inhibitor epsilon Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44243146-44243938 Neighboring gene transmembrane protein 151B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17263 Neighboring gene uncharacterized LOC124901322 Neighboring gene alanyl-tRNA synthetase 2, mitochondrial Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:44280829-44281388 Neighboring gene spermatogenesis associated serine rich 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91950

    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. Sequence divergence within the sperm-specific polypeptide TCTE1 is correlated with species-specific differences in sperm binding to zona-intact eggs. Juneja R, et al. J Androl, 1998 Mar-Apr. PMID 9570741
    2. Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Kwiatkowski TJ Jr, et al. Genomics, 1991 Aug. PMID 1916824
    3. Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse. Zhang J, et al. Hum Mol Genet, 2021 Oct 13. PMID 34169321, Free PMC Article
    4. A mouse chromosome 17 gene encodes a testes-specific transcript with unusual properties. Sarvetnick N, et al. Immunogenetics, 1989. PMID 2568335
    5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    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)

    General gene information

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    Homology

    Clone Names

    • FLJ50041, MGC33600

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    dynein regulatory complex subunit 5
    Names
    T-complex-associated testis-expressed protein 1
    tcte-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_182539.4 → NP_872345.2  dynein regulatory complex subunit 5

      See identical proteins and their annotated locations for NP_872345.2

      Status: VALIDATED

      Source sequence(s)
      AA732744, AK301825, AL353588
      Consensus CDS
      CCDS4910.1
      UniProtKB/Swiss-Prot
      B4DX59, Q5JU00, Q8IYS6
      Related
      ENSP00000360560.4, ENST00000371505.5
      Conserved Domains (2) summary
      cd00116
      Location:179 → 489
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:309 → 335
      LRR_RI; leucine-rich repeat [structural motif]

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44278734..44297698 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418273.1 → XP_047274229.1  dynein regulatory complex subunit 5 isoform X1

      UniProtKB/Swiss-Prot
      B4DX59, Q5JU00, Q8IYS6

    2. XM_005248873.3 → XP_005248930.1  dynein regulatory complex subunit 5 isoform X2

      Conserved Domains (1) summary
      cl39015
      Location:179 → 402
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

    3. XM_005248872.2 → XP_005248929.1  dynein regulatory complex subunit 5 isoform X1

      See identical proteins and their annotated locations for XP_005248929.1

      UniProtKB/Swiss-Prot
      B4DX59, Q5JU00, Q8IYS6
      Conserved Domains (2) summary
      cd00116
      Location:179 → 489
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:309 → 335
      LRR_RI; leucine-rich repeat [structural motif]

    4. XM_047418272.1 → XP_047274228.1  dynein regulatory complex subunit 5 isoform X1

      UniProtKB/Swiss-Prot
      B4DX59, Q5JU00, Q8IYS6

    5. XM_011514338.3 → XP_011512640.1  dynein regulatory complex subunit 5 isoform X1

      See identical proteins and their annotated locations for XP_011512640.1

      UniProtKB/Swiss-Prot
      B4DX59, Q5JU00, Q8IYS6
      Conserved Domains (2) summary
      cd00116
      Location:179 → 489
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:309 → 335
      LRR_RI; leucine-rich repeat [structural motif]

    6. XM_006715009.4 → XP_006715072.1  dynein regulatory complex subunit 5 isoform X3

      See identical proteins and their annotated locations for XP_006715072.1

      Conserved Domains (2) summary
      cd00116
      Location:80 → 390
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:210 → 236
      LRR_RI; leucine-rich repeat [structural motif]

    7. XM_005248874.3 → XP_005248931.1  dynein regulatory complex subunit 5 isoform X3

      See identical proteins and their annotated locations for XP_005248931.1

      Conserved Domains (2) summary
      cd00116
      Location:80 → 390
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:210 → 236
      LRR_RI; leucine-rich repeat [structural motif]

    8. XM_011514339.3 → XP_011512641.1  dynein regulatory complex subunit 5 isoform X3

      See identical proteins and their annotated locations for XP_011512641.1

      Conserved Domains (2) summary
      cd00116
      Location:80 → 390
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:210 → 236
      LRR_RI; leucine-rich repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      44112859..44131845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354439.1 → XP_054210414.1  dynein regulatory complex subunit 5 isoform X2

    2. XM_054354436.1 → XP_054210411.1  dynein regulatory complex subunit 5 isoform X1

    3. XM_054354438.1 → XP_054210413.1  dynein regulatory complex subunit 5 isoform X1

    4. XM_054354437.1 → XP_054210412.1  dynein regulatory complex subunit 5 isoform X1

    5. XM_054354442.1 → XP_054210417.1  dynein regulatory complex subunit 5 isoform X3

    6. XM_054354440.1 → XP_054210415.1  dynein regulatory complex subunit 5 isoform X3

    7. XM_054354441.1 → XP_054210416.1  dynein regulatory complex subunit 5 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JU00.1 GenPept UniProtKB/Swiss-Prot:Q5JU00

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