PTBP1 - polypyrimidine tract binding protein 1 Gene

Homo sapiens

Also known as PTB; PTB2; PTB3; PTB4; pPTB; HNRPI; PTB-1; PTB-T; HNRNPI; HNRNP-I

Gene ID: 5725 | Gene type: protein coding

About PTBP1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:797,452-812,312 (from NCBI)

This gene has 24 transcripts (splice variants), 281 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 42.6), bone marrow (RPKM 39.6) and 25 other tissues.

Summary

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

PTBP1 Products(4)

mRNA	Protein	Name
NM_001411140.1	NP_001398069.1	polypyrimidine tract-binding protein 1 isoform d
NM_002819.5	NP_002810.1	polypyrimidine tract-binding protein 1 isoform a
NM_031990.4	NP_114367.1	polypyrimidine tract-binding protein 1 isoform b
NM_031991.4	NP_114368.1	polypyrimidine tract-binding protein 1 isoform c

PTBP1 Protein Structure

RRM_5

0
100
200
300
400
500
531 a.a.

Protein Preferred Names

Protein Names

polypyrimidine tract-binding protein 1

57 kDa RNA-binding protein PPTB-1

Related Diseases

Diseases

Alias

Mouth Disease

Mouth Diseases

Mouth Disorders

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Thrombophilia, X-Linked, Due To Factor Ix Defect

THPH8	Deep Venous Thrombosis, Protection Against
X-Linked Thrombophilia Due To Factor Ix Defect	Thrombophilia, X-Linked, Due To Factor 9 Defect
Thrombophilia 8, X-Linked, Due To Factor Ix Defect

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia	Acute T Cell Leukemia
Precursor T Lymphoblastic Leukemia	Precursor T-Lymphoblastic Lymphoma/Leukemia
T Acute Lymphoblastic Leukemia	T-Cell Acute Lymphocytic Leukaemia
T-Cell Lymphoblastic Leukemia/Lymphoma	Leukemia T-Cell
Leukemia, T-Cell	Leukemia, Acute, Lymphoblastic, T-Cell
Leukemia, T-Cell Acute Lymphoblastic	Leukemia, Acute T-Cell
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Precursor T-Cell Lymphoblastic Lymphoma
Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS11351	PTBP1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PTBP1	VGNC	VGNC:69133
Macaca mulatta	PTBP1	VGNC	VGNC:76462
Bos taurus	PTBP1	VGNC	VGNC:52809
Canis familiaris	PTBP1	VGNC	VGNC:54984
Mus musculus	PTBP1	MGD	MGI:97791
Rattus norvegicus	PTBP1	RGD	RGD:62047
Others	PTBP1	NCBI

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