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

Gene ID: 168455, updated on 5-Mar-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
Summary
Predicted to be involved in cellular lipid metabolic process and positive regulation of fat cell differentiation. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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Location:
7q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (106654360..106661158, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (107970390..107977188, complement)
105.20220307 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. 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
  2. A single-molecule long-read survey of the human transcriptome. Sharon D, et al. Nat Biotechnol, 2013 Nov. PMID 24108091, Free PMC Article
  3. ATRX proximal protein associations boast roles beyond histone deposition. Scott WA, et al. PLoS Genet, 2021 Nov. PMID 34780483, Free PMC Article
  4. 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
  5. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article

See all (17) 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)

Genotypes

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_2023_10

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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