PTBP3 - polypyrimidine tract binding protein 3 Gene

Also Known as ROD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9991

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
Biological Process GO Annotation Evidence References 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_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (78 - 131)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (184 - 248)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (378 - 430)

(477 - 539)

  • 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

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
Others PTBP3 NCBI