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

Gene ID: 51244, updated on 5-May-2024

Summary

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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; AllianceGenome:HGNC:28033
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; ctr1; 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
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Genomic context

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Location:
3p25.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (14651762..14672655)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (14654184..14675068)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14693269..14714162)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene glutamate receptor interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14615395-14615896 Neighboring gene RHBDF1 pseudogene 1 Neighboring gene uncharacterized LOC105376960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14661555-14662054 Neighboring gene uncharacterized LOC124909347 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14692810-14693468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19515 Neighboring gene uncharacterized LOC124906215 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:14712491-14713690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19517 Neighboring gene MPRA-validated peak4545 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19519 Neighboring gene chromosome 3 open reading frame 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19521 Neighboring gene meiotic recombination hotspot H Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14838036-14838969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14845672-14846414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14852491-14852991 Neighboring gene long intergenic non-protein coding RNA 2011 Neighboring gene FYVE, RhoGEF and PH domain containing 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. Volodarsky M, et al. Hum Mol Genet, 2015 Nov 15. PMID 26358778
  2. A method for global protein expression and antibody screening on high-density filters of an arrayed cDNA library. Büssow K, et al. Nucleic Acids Res, 1998 Nov 1. PMID 9776767, Free PMC Article
  3. Regulation of membrane fluidity by RNF145-triggered degradation of the lipid hydrolase ADIPOR2. Volkmar N, et al. EMBO J, 2022 Oct 4. PMID 35993436, Free PMC Article
  4. Isoform-specific GSK3A activity is negatively correlated with human sperm motility. Freitas MJ, et al. Mol Hum Reprod, 2019 Apr 1. PMID 30824926, Free PMC Article
  5. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We showed that CCDC174 is ubiquitous, restricted to the cell nucleus and co-localized with EIF4A3, the CCDC174 mutation caused depletion of RYR1 and marked myopathic changes in skeletal muscle of affected individuals
    Title: CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
MedGen: C4225196 OMIM: 616816 GeneReviews: Not available
not available

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

  • FLJ33839

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
coiled-coil domain-containing protein 174

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.

Genomic

  1. NG_046773.1 RefSeqGene

    Range
    5017..25910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410719.1 → NP_001397648.1  coiled-coil domain-containing protein 174 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC090952
    Consensus CDS
    CCDS93219.1
    UniProtKB/TrEMBL
    A0A0B4J1R8
    Related
    ENSP00000302344.7, ENST00000303688.8

  2. NM_016474.5 → NP_057558.3  coiled-coil domain-containing protein 174 isoform a

    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, Q96CS5
    Related
    ENSP00000373304.3, ENST00000383794.7
    Conserved Domains (3) summary
    PTZ00121
    Location:19 → 317
    PTZ00121; MAEBL; Provisional
    PHA03247
    Location:311 → 452
    PHA03247; large tegument protein UL36; Provisional
    pfam13300
    Location:228 → 302
    DUF4078; Domain of unknown function (DUF4078)

RNA

  1. NR_135523.2 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    14651762..14672655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006555.3 → XP_016862044.1  coiled-coil domain-containing protein 174 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    14654184..14675068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346750.1 → XP_054202725.1  coiled-coil domain-containing protein 174 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PII3.3 GenPept UniProtKB/Swiss-Prot:Q6PII3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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