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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
    mouse all
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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

    Expression

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    • 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

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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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