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CCDC113 coiled-coil domain containing 113 [ Homo sapiens (human) ]

Gene ID: 29070, updated on 7-Jun-2020

Summary

Official Symbol
CCDC113provided by HGNC
Official Full Name
coiled-coil domain containing 113provided by HGNC
Primary source
HGNC:HGNC:25002
See related
Ensembl:ENSG00000103021 MIM:616070
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
HSPC065
Expression
Broad expression in testis (RPKM 6.0), brain (RPKM 3.3) and 16 other tissues See more
Orthologs

Genomic context

See CCDC113 in Genome Data Viewer
Location:
16q21
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (58196862..58283836)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58283840..58317740)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927556 Neighboring gene cilia and flagella associated protein 20 Neighboring gene casein kinase 2 alpha 2 Neighboring gene RNA, 7SL, cytoplasmic 645, pseudogene Neighboring gene uncharacterized LOC105371293 Neighboring gene Sharpr-MPRA regulatory region 4701 Neighboring gene serine protease 54 Neighboring gene RNA, U6 small nuclear 1110, pseudogene Neighboring gene RNA, U6 small nuclear 269, 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23555, DKFZp434N1418

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriolar satellite IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 113

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_001142302.1NP_001135774.1  coiled-coil domain-containing protein 113 isoform 2

    See identical proteins and their annotated locations for NP_001135774.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC009107, AK299066, AL136785
    Consensus CDS
    CCDS45497.1
    UniProtKB/Swiss-Prot
    Q9H0I3
    Related
    ENSP00000402588.2, ENST00000443128.6
    Conserved Domains (1) summary
    pfam13870
    Location:125300
    DUF4201; Domain of unknown function (DUF4201)
  2. NM_014157.4NP_054876.2  coiled-coil domain-containing protein 113 isoform 1

    See identical proteins and their annotated locations for NP_054876.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC009107
    Consensus CDS
    CCDS10795.1
    UniProtKB/Swiss-Prot
    Q9H0I3
    Related
    ENSP00000219299.4, ENST00000219299.8
    Conserved Domains (1) summary
    pfam13870
    Location:180354
    DUF4201; Domain of unknown function (DUF4201)

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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    58196862..58283836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523039.3XP_011521341.1  coiled-coil domain-containing protein 113 isoform X2

    See identical proteins and their annotated locations for XP_011521341.1

    Conserved Domains (1) summary
    pfam13870
    Location:134309
    DUF4201; Domain of unknown function (DUF4201)
  2. XM_017023176.1XP_016878665.1  coiled-coil domain-containing protein 113 isoform X2

    Conserved Domains (1) summary
    pfam13870
    Location:134309
    DUF4201; Domain of unknown function (DUF4201)
  3. XM_011523038.2XP_011521340.1  coiled-coil domain-containing protein 113 isoform X1

    Conserved Domains (1) summary
    pfam13870
    Location:152327
    DUF4201; Domain of unknown function (DUF4201)
  4. XM_011523041.2XP_011521343.1  coiled-coil domain-containing protein 113 isoform X2

    See identical proteins and their annotated locations for XP_011521343.1

    Conserved Domains (1) summary
    pfam13870
    Location:134309
    DUF4201; Domain of unknown function (DUF4201)
  5. XM_011523042.2XP_011521344.1  coiled-coil domain-containing protein 113 isoform X3

    Conserved Domains (1) summary
    pfam13870
    Location:179297
    DUF4201; Domain of unknown function (DUF4201)
  6. XM_017023177.1XP_016878666.1  coiled-coil domain-containing protein 113 isoform X4

  7. XM_017023178.2XP_016878667.1  coiled-coil domain-containing protein 113 isoform X5

  8. XM_011523040.2XP_011521342.1  coiled-coil domain-containing protein 113 isoform X2

    See identical proteins and their annotated locations for XP_011521342.1

    Conserved Domains (1) summary
    pfam13870
    Location:134309
    DUF4201; Domain of unknown function (DUF4201)
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