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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
9774689 GOA
Cellular Component GO Annotation Evidence Reference Source
part of U2-type catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
28076346 GOA
part of U4/U6 x U5 tri-snRNP complex IPI
IPI: Inferred from physical interaction
30975767 GOA
part of catalytic step 2 spliceosome IDA
IDA: Inferred from direct assay
11991638 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
Protein Preferred Names Protein Names

U5 small nuclear ribonucleoprotein 40 kDa protein

38 kDa-splicing factor

SNRNP40 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SNRNP40 Q96DI7 SNRNP200 Homo sapiens O75643 33961781
Intra
SNRNP40 Q96DI7 SNRNP200 Homo sapiens O75643 28514442
Intra
SNRNP40 Q96DI7 SNRNP200 Homo sapiens O75643 35271311
Intra
SNRNP40 Q96DI7 SNRNP200 Homo sapiens O75643 17353931
Intra
SNRNP40 Q96DI7 EFTUD2 Homo sapiens Q15029 28514442
Intra
SNRNP40 Q96DI7 EFTUD2 Homo sapiens Q15029 35271311
Intra
SNRNP40 Q96DI7 EFTUD2 Homo sapiens Q15029 17353931
Intra
SNRNP40 Q96DI7 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
SNRNP40 Q96DI7 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
SNRNP40 Q96DI7 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
SNRNP40 Q96DI7 PRPF8 Homo sapiens Q6P2Q9 9774689
Intra
SNRNP40 Q96DI7 PRPF8 Homo sapiens Q6P2Q9 33961781
Intra
SNRNP40 Q96DI7 PRPF8 Homo sapiens Q6P2Q9 9774689
Intra
SNRNP40 Q96DI7 PRPF8 Homo sapiens Q6P2Q9 28514442
Intra
SNRNP40 Q96DI7 PRPF8 Homo sapiens Q6P2Q9 35271311
Intra
SNRNP40 Q96DI7 PRPF8 Homo sapiens Q6P2Q9 17353931
Intra
SNRNP40 Q96DI7 DDX23 Homo sapiens Q9BUQ8 35271311
Intra
SNRNP40 Q96DI7 GFAP Homo sapiens P14136 32814053
Intra
SNRNP40 Q96DI7 GFAP Homo sapiens P14136 32814053
Intra
SNRNP40 Q96DI7 GFAP Homo sapiens P14136 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

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