1. Gene
  2. SNRNP40 - small nuclear ribonucleoprotein U5 subunit 40 Gene

SNRNP40 - small nuclear ribonucleoprotein U5 subunit 40 Gene

Homo sapiens

Also known as 40K; SPF38; WDR57; PRP8BP; HPRP8BP; PRPF8BP

Gene ID: 9410 | Gene type: protein coding

About SNRNP40

Cytogenetic location: 1p35.2 Genomic coordinates (GRCh38): 1:31,259,568-31,296,788 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and 26 paralogues. Ubiquitous expression in lymph node (RPKM 17.2), testis (RPKM 14.1) and 25 other tissues.

Summary

This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

SNRNP40 Products(1)

mRNA Protein Name
NM_004814.3 NP_004805.2 U5 small nuclear ribonucleoprotein 40 kDa protein

SNRNP40 Protein Structure

WD40

WD40: WD domain, G-beta repeat (61 - 94)

WD40

WD40: WD domain, G-beta repeat (103 - 137)

WD40

WD40: WD domain, G-beta repeat (142 - 180)

WD40

WD40: WD domain, G-beta repeat (193 - 221)

WD40

WD40: WD domain, G-beta repeat (226 - 263)

WD40

WD40: WD domain, G-beta repeat (291 - 313)

WD40

WD40: WD domain, G-beta repeat (320 - 351)

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  • 357 a.a.
Protein Preferred Names Protein Names

U5 small nuclear ribonucleoprotein 40 kDa protein

38 kDa-splicing factor

Related Diseases

Diseases Alias
Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Oculootofacial Dysplasia

BMKS

Oofd

Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance

Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome

Choanal Atresia Deafness Cardiac Defects Dysmorphism

Oculo-Oto-Facial Dysplasia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SNRNP40 MGD MGI:1913835
Felis catus SNRNP40 VGNC VGNC:65534
Bos taurus SNRNP40 VGNC VGNC:35071
Rattus norvegicus SNRNP40 RGD RGD:1309198
Macaca mulatta SNRNP40 VGNC VGNC:100144
Canis familiaris SNRNP40 VGNC VGNC:46607