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    CCDC137 coiled-coil domain containing 137 [ Homo sapiens (human) ]

    Gene ID: 339230, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC137provided by HGNC
    Official Full Name
    coiled-coil domain containing 137provided by HGNC
    Primary source
    HGNC:HGNC:33451
    See related
    Ensembl:ENSG00000185298 MIM:614271; AllianceGenome:HGNC:33451
    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
    RaRF
    Summary
    Enables RNA binding activity. Located in chromosome and fibrillar center. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 7.7), lymph node (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC137 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81666737..81673899)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82583649..82590807)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79633767..79640929)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 6G Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79630511-79631145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79632831-79633752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79633753-79634674 Neighboring gene oxidoreductase like domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9143 Neighboring gene Sharpr-MPRA regulatory region 13823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9145 Neighboring gene ARF like GTPase 16 Neighboring gene hepatocyte growth factor-regulated tyrosine kinase substrate Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79659706-79659891 Neighboring gene microRNA 6786

    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. Prognostic Significance of CCDC137 Expression and Its Association with Immune Infiltration in Hepatocellular Carcinoma. Bai L, et al. Dis Markers, 2022. PMID 36061359, Free PMC Article
    2. CDK12 orchestrates super-enhancer-associated CCDC137 transcription to direct hepatic metastasis in colorectal cancer. Dai W, et al. Clin Transl Med, 2022 Oct. PMID 36254394, Free PMC Article
    3. Negative regulation of ERRα by a novel nucleolar protein. Um SJ, et al. Biochem Biophys Res Commun, 2012 Feb 10. PMID 22266318
    4. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. Ohta S, et al. Cell, 2010 Sep 3. PMID 20813266, Free PMC Article
    5. Human Regulatory Protein Ki-1/57 Is a Target of SUMOylation and Affects PML Nuclear Body Formation. Saito Â, et al. J Proteome Res, 2017 Sep 1. PMID 28695742, Free PMC Article

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CDK12 orchestrates super-enhancer-associated CCDC137 transcription to direct hepatic metastasis in colorectal cancer.
      Title: CDK12 orchestrates super-enhancer-associated CCDC137 transcription to direct hepatic metastasis in colorectal cancer.
    2. Prognostic Significance of CCDC137 Expression and Its Association with Immune Infiltration in Hepatocellular Carcinoma.
      Title: Prognostic Significance of CCDC137 Expression and Its Association with Immune Infiltration in Hepatocellular Carcinoma.
    3. HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137.
      Title: HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137.
    4. These data suggest that RaRF sequesters ERRalpha in the nucleolus through a specific interaction, thereby inhibiting its transcriptional activity.
      Title: Negative regulation of ERRα by a novel nucleolar protein.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC16597

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 137
    Names
    hepatocellular carcinoma related protein 2
    retinoic acid resistance factor

    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.

    mRNA and Protein(s)

    1. NM_199287.3 → NP_954981.1  coiled-coil domain-containing protein 137

      See identical proteins and their annotated locations for NP_954981.1

      Status: VALIDATED

      Source sequence(s)
      AC139530
      Consensus CDS
      CCDS42400.1
      UniProtKB/Swiss-Prot
      Q6PK04
      UniProtKB/TrEMBL
      I3L0U5
      Related
      ENSP00000329360.8, ENST00000329214.13

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81666737..81673899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435910.1 → XP_047291866.1  coiled-coil domain-containing protein 137 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82583649..82590807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315936.1 → XP_054171911.1  coiled-coil domain-containing protein 137 isoform X2

    2. XM_054315937.1 → XP_054171912.1  coiled-coil domain-containing protein 137 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PK04.1 GenPept UniProtKB/Swiss-Prot:Q6PK04

    Gene LinkOut

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

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