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

Gene ID: 150275, updated on 1-Jun-2020

Summary

Official Symbol
CCDC117provided by HGNC
Official Full Name
coiled-coil domain containing 117provided by HGNC
Primary source
HGNC:HGNC:26599
See related
Ensembl:ENSG00000159873
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
Expression
Broad expression in testis (RPKM 25.5), placenta (RPKM 10.2) and 24 other tissues See more
Orthologs

Genomic context

See CCDC117 in Genome Data Viewer
Location:
22q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (28772674..28789301)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29168662..29185283)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene checkpoint kinase 2 Neighboring gene HscB mitochondrial iron-sulfur cluster cochaperone Neighboring gene X-box binding protein 1 Neighboring gene zinc and ring finger 3 Neighboring gene chromosome 9 open reading frame 16 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33814, FLJ45895

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 117

NCBI Reference Sequences (RefSeq)

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_001284263.1NP_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:123252
    CCDC117; Coiled-coil domain-containing protein 117
  2. NM_001284264.1NP_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:88195
    CCDC117; Coiled-coil domain-containing protein 117
  3. NM_001284265.1NP_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/Swiss-Prot
    Q8IWD4
    UniProtKB/TrEMBL
    B7Z820
    Conserved Domains (1) summary
    pfam15810
    Location:9138
    CCDC117; Coiled-coil domain-containing protein 117
  4. NM_173510.4NP_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
    Q8IWD4
    UniProtKB/TrEMBL
    A0A024R1C5
    Related
    ENSP00000249064.4, ENST00000249064.9
    Conserved Domains (2) summary
    pfam15058
    Location:361
    Speriolin_N; Speriolin N terminus
    pfam15810
    Location:142279
    CCDC117; Coiled-coil domain-containing protein 117

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    28772674..28789301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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