CWC25 CWC25 spliceosome associated protein homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: CWC25provided by HGNC
Official Full Name: CWC25 spliceosome associated protein homologprovided by HGNC
Primary source: HGNC:HGNC:25989
See related: Ensembl:ENSG00000273559 AllianceGenome:HGNC:25989
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CCDC49
Summary: This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]
Expression: Ubiquitous expression in bone marrow (RPKM 26.7), testis (RPKM 10.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (38800441..38825321, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (39663526..39688404, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (36956694..36981574, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

RH94016 (e-PCR)
- UniSTS:85266

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

PMC156606P4 (e-PCR)
- UniSTS:271411

RH45659 (e-PCR)
- UniSTS:64159

RH76647 (e-PCR)
- UniSTS:84713

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IDA Inferred from Direct Assay 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 spliceosomal complex	IBA Inferred from Biological aspect of Ancestor 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

General protein information

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Preferred Names: pre-mRNA-splicing factor CWC25 homolog

Names: coiled-coil domain-containing protein 49

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_017748.5 → NP_060218.1 pre-mRNA-splicing factor CWC25 homolog

See identical proteins and their annotated locations for NP_060218.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the supported protein.

Source sequence(s)

AC006449, AW612704, BC008833

Consensus CDS

CCDS45663.1

UniProtKB/Swiss-Prot

A0JLM3, Q68DK5, Q9NXE8

UniProtKB/TrEMBL

B4DJK2

Related

ENSP00000478070.1, ENST00000614790.5

Conserved Domains (2) summary

pfam10197
Location:11 → 37

Cir_N; N-terminal domain of CBF1 interacting co-repressor CIR

pfam12542
Location:67 → 157

CWC25; Pre-mRNA splicing factor

RNA

NR_073428.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC006449, AK296115, AW612704, HY021361