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

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, Dec 2024]
Expression: Ubiquitous expression in lymph node (RPKM 9.1), thyroid (RPKM 8.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (179944876..180007297, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (180428148..180490575, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (180809603..180872024, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers.
Title: Gene expression network analysis of lymph node involvement in colon cancer identifies AHSA2, CDK10, and CWC22 as possible prognostic markers.
Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
Title: Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.
The binding mode of CWC22 to eIF4AIII reveals a facet of how MIF4G domains use their versatile structural frameworks to activate or inhibit DEAD-box proteins.
Title: Crystal structure of the human eIF4AIII-CWC22 complex shows how a DEAD-box protein is inhibited by a MIF4G domain.
CWC22 connects pre-mRNA splicing and exon junction complex assembly.
Title: CWC22 connects pre-mRNA splicing and exon junction complex assembly.
The essential splicing factor CWC22 has acquired functions in exon junction complex assembly and nonsense-mediated decay during evolution from single-celled to complex eukaryotes.
Title: Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay.
CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly
Title: Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly.
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

EBI GWAS Catalog

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

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

RH102467 (e-PCR)
- UniSTS:96801

RH121476 (e-PCR)
- UniSTS:134604

RH65718 (e-PCR)
- UniSTS:89307

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA 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 regulation of mRNA splicing, via spliceosome	IC Inferred by Curator 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
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

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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)

NM_001376029.1 → NP_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

Q05DC2, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6, Q9HCG8

UniProtKB/TrEMBL

B7WP74

Related

ENSP00000384159.2, ENST00000404136.2

Conserved Domains (3) summary

smart00543
Location:164 → 345

MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)

TIGR01622
Location:821 → 902

SF-CC1; splicing factor, CC1-like family

pfam02847
Location:455 → 561

MA3; MA3 domain
NM_001376030.1 → NP_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

Q05DC2, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6, Q9HCG8

UniProtKB/TrEMBL

B7WP74

Conserved Domains (3) summary

smart00543
Location:164 → 345

MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)

TIGR01622
Location:821 → 902

SF-CC1; splicing factor, CC1-like family

pfam02847
Location:455 → 561

MA3; MA3 domain
NM_001376032.1 → NP_001362961.1 pre-mRNA-splicing factor CWC22 homolog isoform b

Status: VALIDATED

Source sequence(s)

AC068194, AC096587

UniProtKB/TrEMBL

B7WP74

Conserved Domains (4) summary

smart00543
Location:123 → 304

MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)

TIGR01622
Location:780 → 861

SF-CC1; splicing factor, CC1-like family

TIGR01642
Location:702 → 833

U2AF_lg; U2 snRNP auxilliary factor, large subunit, splicing factor

pfam02847
Location:414 → 520

MA3; MA3 domain
NM_001376033.1 → NP_001362962.1 pre-mRNA-splicing factor CWC22 homolog isoform c

Status: VALIDATED

Source sequence(s)

AC068194, AC096587

UniProtKB/TrEMBL

B7WP74

Conserved Domains (2) summary

smart00543
Location:164 → 345

MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)

cl02653
Location:455 → 561

MA3; MA3 domain
NM_020943.3 → NP_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

Q05DC2, Q4G135, Q52LF0, Q6PEX2, Q7Z6I0, Q9H5L3, Q9H6Q6, Q9HCG8

UniProtKB/TrEMBL

B7WP74

Related

ENSP00000387006.3, ENST00000410053.8

Conserved Domains (3) summary

smart00543
Location:164 → 345

MIF4G; Middle domain of eukaryotic initiation factor 4G (eIF4G)

TIGR01622
Location:821 → 902

SF-CC1; splicing factor, CC1-like family

pfam02847
Location:455 → 561

MA3; MA3 domain