PRPF40B - pre-mRNA processing factor 40 homolog B Gene

Also Known as HYPC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25766

About PRPF40B

This gene has 16 transcripts (splice variants), 94 orthologues, 1 paralogue and is associated with 67 phenotypes. Broad expression in testis (RPKM 13.2), thyroid (RPKM 7.6) and 23 other tissues.

Summary

This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]

PRPF40B Products (11)

mRNA Protein Name
NM_001031698.3 NP_001026868.2 pre-mRNA-processing factor 40 homolog B isoform 1
NM_001363607.2 NP_001350536.2 pre-mRNA-processing factor 40 homolog B isoform 3
NM_001379030.1 NP_001365959.1 pre-mRNA-processing factor 40 homolog B isoform 4
NM_001379031.1 NP_001365960.1 pre-mRNA-processing factor 40 homolog B isoform 5
NM_001379032.1 NP_001365961.1 pre-mRNA-processing factor 40 homolog B isoform 6
NM_001379033.1 NP_001365962.1 pre-mRNA-processing factor 40 homolog B isoform 7
NM_001379034.1 NP_001365963.1 pre-mRNA-processing factor 40 homolog B isoform 8
NM_001379035.1 NP_001365964.1 pre-mRNA-processing factor 40 homolog B isoform 9
NM_001379036.1 NP_001365965.1 pre-mRNA-processing factor 40 homolog B isoform 10
NM_001379037.1 NP_001365966.1 pre-mRNA-processing factor 40 homolog B isoform 11
NM_012272.3 NP_036404.1 pre-mRNA-processing factor 40 homolog B isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

PRPF40B Protein Structure

WW

WW: WW domain (96 - 123)

WW

WW: WW domain (137 - 164)

FF

FF: FF domain (278 - 327)

FF

FF: FF domain (492 - 547)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 871 a.a.
Protein Preferred Names Protein Names

pre-mRNA-processing factor 40 homolog B

  • Huntingtin interacting protein C

PRPF40B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PRPF40B Q6NWY9 FUBP1 Homo sapiens Q96AE4-2
Y2H Array
32296183
Intra
PRPF40B Q6NWY9 FUBP1 Homo sapiens Q96AE4-2
Y2H Prey Pooling
32296183
Intra
PRPF40B Q6NWY9 FUBP1 Homo sapiens Q96AE4-2
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Blackwater Fever

  • Black Water Fever

  • Hemoglobinuric, Malaria

  • Malarial Hemoglobinuria
Rett Syndrome

  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant
Deficiency Anemia

  • Anemia

  • Deficiency Anemias

  • Anaemia
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11213 PRPF40B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus PRPF40B VGNC VGNC:64376
Macaca mulatta PRPF40B VGNC VGNC:76312
Mus musculus PRPF40B MGD MGI:1925583
Canis familiaris PRPF40B VGNC VGNC:45027
Rattus norvegicus PRPF40B RGD RGD:1565411
Bos taurus PRPF40B VGNC VGNC:33380
Others PRPF40B NCBI