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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
    mouse all
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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 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. Nkx2-5 Second Heart Field Target Gene Ccdc117 Regulates DNA Metabolism and Proliferation. Horton AJ, et al. Sci Rep, 2019 Feb 11. PMID 30742009, Free PMC Article
    2. Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. Wu C, et al. Nat Genet, 2014 Sep. PMID 25129146, Free PMC Article
    3. A proteomic investigation of ligand-dependent HSP90 complexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein. Gano JJ, et al. Mol Cell Proteomics, 2010 Feb. PMID 19875381, Free PMC Article
    4. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM, et al. Nat Genet, 2014 Sep. PMID 25086665, Free PMC Article
    5. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article

    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

    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)

    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

    • 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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