2. Gene
  3. PRPF40B - pre-mRNA processing factor 40 homolog B Gene

PRPF40B - pre-mRNA processing factor 40 homolog B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HYPC

Gene ID: 25766 | Gene type: protein coding

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

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)

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  • 871 a.a.
Protein Preferred Names Protein Names

pre-mRNA-processing factor 40 homolog B

Huntingtin interacting protein C

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