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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
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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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