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CCDC174 coiled-coil domain containing 174 [ Homo sapiens (human) ]

Gene ID: 51244, updated on 15-Apr-2019

Summary

Official Symbol
CCDC174provided by HGNC
Official Full Name
coiled-coil domain containing 174provided by HGNC
Primary source
HGNC:HGNC:28033
See related
Ensembl:ENSG00000154781 MIM:616735
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
IHPM; IHPMR; C3orf19; HSPC212
Summary
The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in ovary (RPKM 7.3), testis (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See CCDC174 in Genome Data Viewer
Location:
3p25.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (14651746..14672659)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14693253..14714166)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene glutamate receptor interacting protein 2 Neighboring gene RHBDF1 pseudogene 1 Neighboring gene uncharacterized LOC105376960 Neighboring gene chromosome 3 open reading frame 20 Neighboring gene meiotic recombination hotspot H

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33839

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 174

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.

Genomic

  1. NG_046773.1 RefSeqGene

    Range
    5001..25914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016474.5NP_057558.3  coiled-coil domain-containing protein 174

    See identical proteins and their annotated locations for NP_057558.3

    Status: REVIEWED

    Source sequence(s)
    AC090952, AI797763, BC013999, BC033897, BP195134
    Consensus CDS
    CCDS2620.2
    UniProtKB/Swiss-Prot
    Q6PII3
    Related
    ENSP00000373304.3, ENST00000383794.7
    Conserved Domains (1) summary
    pfam13300
    Location:228302
    DUF4078; Domain of unknown function (DUF4078)

RNA

  1. NR_135523.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090952, AI797763, BC013999, BC033897, BP195134, CD580179

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    14651746..14672659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006554.2XP_016862043.1  coiled-coil domain-containing protein 174 isoform X1

    UniProtKB/TrEMBL
    A0A0B4J1R8
    Related
    ENSP00000302344.7, ENST00000303688.8
    Conserved Domains (2) summary
    pfam13102
    Location:50129
    Phage_int_SAM_5; Phage integrase SAM-like domain
    cl26464
    Location:236376
    Atrophin-1; Atrophin-1 family
  2. XM_017006555.2XP_016862044.1  coiled-coil domain-containing protein 174 isoform X2

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