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CCDC117 coiled-coil domain containing 117 [ Homo sapiens (human) ]

Gene ID: 150275, updated on 2-Nov-2024

Summary

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Official Symbol
CCDC117provided by HGNC
Official Full Name
coiled-coil domain containing 117provided by HGNC
Primary source
HGNC:HGNC:26599
See related
Ensembl:ENSG00000159873 AllianceGenome:HGNC:26599
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
dJ366L4.1
Summary
Involved in positive regulation of DNA repair and positive regulation of cell population proliferation. Located in mitotic spindle. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 25.5), placenta (RPKM 10.2) and 24 other tissues See more
Orthologs
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Genomic context

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See CCDC117 in Genome Data Viewer
Location:
22q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (28772695..28789301)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29234314..29250593)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29168683..29185289)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene checkpoint kinase 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:29132277-29132794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29132795-29133312 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29133817-29134317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18806 Neighboring gene HscB mitochondrial iron-sulfur cluster cochaperone Neighboring gene Sharpr-MPRA regulatory region 506 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29168461-29168962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29177710-29178210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29178211-29178711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29196765-29197618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29197619-29198472 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29203347-29204162 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29204163-29204978 Neighboring gene X-box binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29231311-29231812 Neighboring gene BBLN pseudogene 2

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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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
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

  • FLJ33814, FLJ45895

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 positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
coiled-coil domain-containing protein 117

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_001284263.2 → NP_001271192.1  coiled-coil domain-containing protein 117 isoform b

    See identical proteins and their annotated locations for NP_001271192.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AK091133, AK289516, AK302925, BC053874, HY224937
    Consensus CDS
    CCDS63436.1
    UniProtKB/Swiss-Prot
    Q8IWD4
    Related
    ENSP00000389478.2, ENST00000448492.6
    Conserved Domains (1) summary
    pfam15810
    Location:123 → 252
    CCDC117; Coiled-coil domain-containing protein 117

  2. NM_001284264.2 → NP_001271193.1  coiled-coil domain-containing protein 117 isoform c

    See identical proteins and their annotated locations for NP_001271193.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AK091133, AK289516, AK295140, BC053874, HY224937
    Consensus CDS
    CCDS63435.1
    UniProtKB/Swiss-Prot
    Q8IWD4
    Related
    ENSP00000387827.2, ENST00000421503.6
    Conserved Domains (1) summary
    pfam15810
    Location:88 → 195
    CCDC117; Coiled-coil domain-containing protein 117

  3. NM_001284265.1 → NP_001271194.1  coiled-coil domain-containing protein 117 isoform d

    See identical proteins and their annotated locations for NP_001271194.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK091133, AK302798, BC053874, DB087275, HY224937
    UniProtKB/TrEMBL
    B7Z820
    Conserved Domains (1) summary
    pfam15810
    Location:9 → 138
    CCDC117; Coiled-coil domain-containing protein 117

  4. NM_173510.4 → NP_775781.1  coiled-coil domain-containing protein 117 isoform a

    See identical proteins and their annotated locations for NP_775781.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK091133, AK289516, BC053874, HY224937
    Consensus CDS
    CCDS13846.1
    UniProtKB/Swiss-Prot
    A8K0F1, B7Z2V1, B7Z860, Q6ICA7, Q8IWD4, Q8N278
    Related
    ENSP00000249064.4, ENST00000249064.9
    Conserved Domains (2) summary
    pfam15058
    Location:3 → 61
    Speriolin_N; Speriolin N terminus
    pfam15810
    Location:142 → 279
    CCDC117; Coiled-coil domain-containing protein 117

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    28772695..28789301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    29234314..29250593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWD4.1 GenPept UniProtKB/Swiss-Prot:Q8IWD4

Gene LinkOut

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

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