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CWC22 CWC22 spliceosome associated protein homolog [ Homo sapiens (human) ]

Gene ID: 57703, updated on 4-Dec-2022

Summary

Official Symbol
CWC22provided by HGNC
Official Full Name
CWC22 spliceosome associated protein homologprovided by HGNC
Primary source
HGNC:HGNC:29322
See related
Ensembl:ENSG00000163510 MIM:615186; AllianceGenome:HGNC:29322
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
NCM; fSAPb; EIF4GL
Summary
Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in cytosol and nuclear speck. Part of U2-type catalytic step 1 spliceosome; U2-type catalytic step 2 spliceosome; and U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 9.1), thyroid (RPKM 8.8) and 25 other tissues See more
Orthologs
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Genomic context

See CWC22 in Genome Data Viewer
Location:
2q31.3
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (179944876..180007297, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (180428148..180490575, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (180809603..180872024, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 385B Neighboring gene microRNA 1258 Neighboring gene small nucleolar RNA SNORA43 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:180921213-180921999 Neighboring gene ERG-positive prostate cancer associated androgen responsive transcript

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of U2-type catalytic step 1 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of U2-type catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
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 

General protein information

Preferred Names
pre-mRNA-splicing factor CWC22 homolog
Names
CWC22 homolog, spliceosome-associated protein
CWC22 spliceosome-associated protein
functional spliceosome-associated protein b
nucampholin homolog

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_001376029.1NP_001362958.1  pre-mRNA-splicing factor CWC22 homolog isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), as well as variants 1 and 3, encodes isoform a.
    Source sequence(s)
    AC068194, AC096587
    Consensus CDS
    CCDS46465.1
    UniProtKB/Swiss-Prot
    Q9H6Q6
    Related
    ENSP00000384159.2, ENST00000404136.2
    Conserved Domains (3) summary
    smart00543
    Location:164345
    MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
    TIGR01622
    Location:821902
    SF-CC1; splicing factor, CC1-like family
    pfam02847
    Location:455561
    MA3; MA3 domain
  2. NM_001376030.1NP_001362959.1  pre-mRNA-splicing factor CWC22 homolog isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3). as well as variants 1 and 2, encodes isoform a.
    Source sequence(s)
    AC068194, AC096587
    Consensus CDS
    CCDS46465.1
    UniProtKB/Swiss-Prot
    Q9H6Q6
    Conserved Domains (3) summary
    smart00543
    Location:164345
    MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
    TIGR01622
    Location:821902
    SF-CC1; splicing factor, CC1-like family
    pfam02847
    Location:455561
    MA3; MA3 domain
  3. NM_001376032.1NP_001362961.1  pre-mRNA-splicing factor CWC22 homolog isoform b

    Status: VALIDATED

    Source sequence(s)
    AC068194, AC096587
    Conserved Domains (4) summary
    smart00543
    Location:123304
    MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
    TIGR01622
    Location:780861
    SF-CC1; splicing factor, CC1-like family
    TIGR01642
    Location:702833
    U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor
    pfam02847
    Location:414520
    MA3; MA3 domain
  4. NM_001376033.1NP_001362962.1  pre-mRNA-splicing factor CWC22 homolog isoform c

    Status: VALIDATED

    Source sequence(s)
    AC068194, AC096587
    Conserved Domains (2) summary
    smart00543
    Location:164345
    MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
    cl02653
    Location:455561
    MA3; MA3 domain
  5. NM_020943.3NP_065994.1  pre-mRNA-splicing factor CWC22 homolog isoform a

    See identical proteins and their annotated locations for NP_065994.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB046824, AC068194, AC096587, BC031216
    Consensus CDS
    CCDS46465.1
    UniProtKB/Swiss-Prot
    Q9H6Q6, Q9HCG8
    Related
    ENSP00000387006.3, ENST00000410053.8
    Conserved Domains (3) summary
    smart00543
    Location:164345
    MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)
    TIGR01622
    Location:821902
    SF-CC1; splicing factor, CC1-like family
    pfam02847
    Location:455561
    MA3; MA3 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    179944876..180007297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    180428148..180490575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)