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    CCDC115 coiled-coil domain containing 115 [ Homo sapiens (human) ]

    Gene ID: 84317, updated on 4-Jul-2021

    Summary

    Official Symbol
    CCDC115provided by HGNC
    Official Full Name
    coiled-coil domain containing 115provided by HGNC
    Primary source
    HGNC:HGNC:28178
    See related
    Ensembl:ENSG00000136710 MIM:613734
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ccp1; CDG2O
    Summary
    The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in ovary (RPKM 17.0), thyroid (RPKM 15.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See CCDC115 in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (130337933..130342681, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131095506..131100254, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tektin 4 pseudogene 3 Neighboring gene tRNA-Glu (anticodon TTC) 1-1 Neighboring gene IMP U3 small nucleolar ribonucleoprotein 4 Neighboring gene protein tyrosine phosphatase non-receptor type 18 Neighboring gene uncharacterized LOC105373618

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ30131, FLJ34877, MGC12981

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 115

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_046779.1 RefSeqGene

      Range
      5130..9878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321118.1NP_001308047.1  coiled-coil domain-containing protein 115 isoform b

      Status: REVIEWED

      Source sequence(s)
      AA831631, BC006429, DC340780
      Consensus CDS
      CCDS82512.1
      UniProtKB/Swiss-Prot
      Q96NT0
      UniProtKB/TrEMBL
      B8ZZ99
      Related
      ENSP00000387301.1, ENST00000409127.1
    2. NM_001321119.2NP_001308048.2  coiled-coil domain-containing protein 115 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC132479
    3. NM_032357.4NP_115733.2  coiled-coil domain-containing protein 115 isoform a

      See identical proteins and their annotated locations for NP_115733.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA831631, BC006429, DB025106
      Consensus CDS
      CCDS2159.1
      UniProtKB/Swiss-Prot
      Q96NT0
      UniProtKB/TrEMBL
      A0A024QZZ6
      Related
      ENSP00000259229.2, ENST00000259229.7
      Conserved Domains (1) summary
      cl00613
      Location:11158
      ATP-synt_D; ATP synthase subunit D

    RNA

    1. NR_104471.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' most exon and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA831631, AK295922, BC006429, DC340780
      Related
      ENST00000651709.1
    2. NR_135548.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AA831631, AK295922, BC006429, DB025106

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      130337933..130342681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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