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    CWC15 CWC15 spliceosome associated protein homolog [ Homo sapiens (human) ]

    Gene ID: 51503, updated on 7-Apr-2024

    Summary

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    Official Symbol
    CWC15provided by HGNC
    Official Full Name
    CWC15 spliceosome associated protein homologprovided by HGNC
    Primary source
    HGNC:HGNC:26939
    See related
    Ensembl:ENSG00000150316 AllianceGenome:HGNC:26939
    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
    ORF5; AD002; Cwf15; C11orf5; HSPC148
    Summary
    Predicted to enable RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in mitochondrion and nuclear speck. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 28.4), bone marrow (RPKM 17.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94962620..94973556, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94969625..94980574, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94695785..94706720, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene PIWIL4 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:94439150-94440349 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:94467520-94468192 Neighboring gene angiomotin like 1 Neighboring gene Sharpr-MPRA regulatory region 14517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94522022-94522522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94522523-94523023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94609589-94610100 Neighboring gene ST13, Hsp70 interacting protein pseudogene 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:94705997-94706772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5407 Neighboring gene general transcription factor IIE subunit 2 pseudogene Neighboring gene lysine demethylase 4D pseudogene Neighboring gene lysine demethylase 4D

    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. CTNNBL1 facilitates the association of CWC15 with CDC5L and is required to maintain the abundance of the Prp19 spliceosomal complex. van Maldegem F, et al. Nucleic Acids Res, 2015 Aug 18. PMID 26130721, Free PMC Article
    2. Characterization of five novel human genes in the 11q13-q22 region. O'Brien KP, et al. Biochem Biophys Res Commun, 2000 Jun 24. PMID 10873569
    3. Molecular architecture of the human Prp19/CDC5L complex. Grote M, et al. Mol Cell Biol, 2010 May. PMID 20176811, Free PMC Article
    4. Splicing and beyond: the many faces of the Prp19 complex. Chanarat S, et al. Biochim Biophys Acta, 2013 Oct. PMID 23742842
    5. Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry. Ajuh P, et al. EMBO J, 2000 Dec 1. PMID 11101529, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA cis splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Prp19 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spliceosomal complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spliceosome-associated protein CWC15 homolog
    Names
    CWC15 spliceosome-associated protein

    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_001363371.2 → NP_001350300.1  spliceosome-associated protein CWC15 homolog

      Status: VALIDATED

      Source sequence(s)
      AP002383, FP884233
      Consensus CDS
      CCDS73369.1
      UniProtKB/Swiss-Prot
      B2RC17, Q05BV9, Q05DM1, Q9P013, Q9UI29
      Conserved Domains (1) summary
      pfam04889
      Location:1 → 228
      Cwf_Cwc_15; Cwf15/Cwc15 cell cycle control protein

    2. NM_001363372.2 → NP_001350301.1  spliceosome-associated protein CWC15 homolog

      Status: VALIDATED

      Source sequence(s)
      AP002383, FP884233
      Consensus CDS
      CCDS73369.1
      UniProtKB/Swiss-Prot
      B2RC17, Q05BV9, Q05DM1, Q9P013, Q9UI29
      Conserved Domains (1) summary
      pfam04889
      Location:1 → 228
      Cwf_Cwc_15; Cwf15/Cwc15 cell cycle control protein

    3. NM_016403.4 → NP_057487.2  spliceosome-associated protein CWC15 homolog

      See identical proteins and their annotated locations for NP_057487.2

      Status: VALIDATED

      Source sequence(s)
      AP002383, BC040946, BM971024, CA413488
      Consensus CDS
      CCDS73369.1
      UniProtKB/Swiss-Prot
      B2RC17, Q05BV9, Q05DM1, Q9P013, Q9UI29
      Related
      ENSP00000475615.2, ENST00000279839.8
      Conserved Domains (1) summary
      pfam04889
      Location:1 → 228
      Cwf_Cwc_15; Cwf15/Cwc15 cell cycle control protein

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      94962620..94973556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      94969625..94980574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P013.2 GenPept UniProtKB/Swiss-Prot:Q9P013

    Gene LinkOut

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

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