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    CCDC71L coiled-coil domain containing 71 like [ Homo sapiens (human) ]

    Gene ID: 168455, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC71Lprovided by HGNC
    Official Full Name
    coiled-coil domain containing 71 likeprovided by HGNC
    Primary source
    HGNC:HGNC:26685
    See related
    Ensembl:ENSG00000253276 AllianceGenome:HGNC:26685
    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
    C7orf74
    Orthologs
    mouse all
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    Genomic context

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    See CCDC71L in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (106654360..106661158, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (107970390..107977188, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (106294806..106301604, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized CTB-30L5.1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26486 Neighboring gene uncharacterized LOC105375440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18535 Neighboring gene MPRA-validated peak6673 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:106358550-106359749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26489 Neighboring gene MPRA-validated peak6674 silencer Neighboring gene MPRA-validated peak6675 silencer Neighboring gene Sharpr-MPRA regulatory region 6701 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:106415535-106416734 Neighboring gene long intergenic non-protein coding RNA 2577 Neighboring gene RNA, 5S ribosomal pseudogene 236 Neighboring gene Sharpr-MPRA regulatory region 12136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26490 Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

    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. A single-molecule long-read survey of the human transcriptome. Sharon D, et al. Nat Biotechnol, 2013 Nov. PMID 24108091, Free PMC Article
    2. Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Bis JC, et al. Circ Cardiovasc Genet, 2014 Jun. PMID 24951662, Free PMC Article
    3. Proximity labeling reveals OTUD3 as a DNA-binding deubiquitinase of cGAS. Lyu H, et al. Cell Rep, 2023 Apr 25. PMID 36966392
    4. ATRX proximal protein associations boast roles beyond histone deposition. Scott WA, et al. PLoS Genet, 2021 Nov. PMID 34780483, Free PMC Article
    5. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Markers

    Homology

    Clone Names

    • FLJ11436, FLJ25556, FLJ36031, MGC16181

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 71L

    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_051955.1 RefSeqGene

      Range
      5031..11829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175884.6 → NP_787080.2  coiled-coil domain-containing protein 71L

      See identical proteins and their annotated locations for NP_787080.2

      Status: VALIDATED

      Source sequence(s)
      AC004917, AI674055, AK093350, BM068758, DB482357
      Consensus CDS
      CCDS55151.1
      UniProtKB/Swiss-Prot
      Q7Z756, Q8N9Z2
      Related
      ENSP00000430897.2, ENST00000523505.3
      Conserved Domains (1) summary
      pfam15374
      Location:37 → 114
      CCDC71L; Coiled-coil domain-containing protein 71L

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      106654360..106661158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      107970390..107977188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9Z2.2 GenPept UniProtKB/Swiss-Prot:Q8N9Z2

    Gene LinkOut

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

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