PRPF40B - pre-mRNA processing factor 40 homolog B Gene

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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

0
200
400
600
800
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	Pre-designed Sets	/	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

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