PTBP3 - polypyrimidine tract binding protein 3 Gene

Homo sapiens

Also known as ROD1

Gene ID: 9991 | Gene type: protein coding

About PTBP3

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:112,217,715-112,379,882 (from NCBI)

This gene has 8 transcripts (splice variants), 164 orthologues and 5 paralogues. Ubiquitous expression in appendix (RPKM 17.8), lymph node (RPKM 17.7) and 25 other tissues.

Summary

The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

PTBP3 Products(8)

mRNA	Protein	Name
NM_001163788.4	NP_001157260.1	polypyrimidine tract-binding protein 3 isoform 2
NM_001163790.2	NP_001157262.1	polypyrimidine tract-binding protein 3 isoform 3
NM_001244896.2	NP_001231825.1	polypyrimidine tract-binding protein 3 isoform 4
NM_001244897.2	NP_001231826.1	polypyrimidine tract-binding protein 3 isoform 5
NM_001244898.1	NP_001231827.1	polypyrimidine tract-binding protein 3 isoform 6
NM_001375918.1	NP_001362847.1	polypyrimidine tract-binding protein 3 isoform 7
NM_001375920.1	NP_001362849.1	polypyrimidine tract-binding protein 3 isoform 8
NM_005156.7	NP_005147.3	polypyrimidine tract-binding protein 3 isoform 1

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of RNA splicing	IDA IDA: Inferred from direct assay	18335065	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

PTBP3 Protein Structure

RRM_5

RRM_1

RRM_5

0
100
200
300
400
500
552 a.a.

Protein Preferred Names

Protein Names

polypyrimidine tract-binding protein 3

ROD1 regulator of differentiation 1

Related Diseases

Diseases

Alias

Cardiac Valvular Dysplasia, X-Linked

Xmvd	X-Linked Cardiac Valvular Dysplasia
CVD1	Filamin A-Related X-Linked Myxomatous Valvular Dysplasia
Flna-Related Valvular Dystrophy	Flna-Related X-Linked Myxomatous Valvular Dysplasia
Valvular Heart Disease, Congenital	Myxomatous Valvular Dystrophy, X-Linked
Congenital Valvular Heart Disease	X-Linked Myxomatous Valvular Dystrophy
CVDPX	Ehlers-Danlos Syndrome, Type V, Formerly
Eds5, Formerly	Dystrophie Valvulaire Associee A Flna
Eds 5	Ehlers-Danlos Syndrome, Type 5
Dystrophie Valvulaire Associée À Flna	Filamin-A-Associated Myxomatous Mitral Valve Disease
Filamin-A-Related Myxomatous Mitral Valve Dystrophy	Congenital Valvular Dysplasia
Cvdx	Ehlers-Danlos Syndrome Type 5

Melnick-Needles Syndrome

MNS	Melnick-Needles Osteodysplasty
Osteodysplasty Of Melnick And Needles	Osteochondrodysplasias

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-RS11353	PTBP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PTBP3	VGNC	VGNC:76244
Bos taurus	PTBP3	VGNC	VGNC:52810
Felis catus	PTBP3	VGNC	VGNC:64422
Mus musculus	PTBP3	MGD	MGI:1923334
Rattus norvegicus	PTBP3	RGD	RGD:621671
Canis familiaris	PTBP3	VGNC	VGNC:56070

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