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PTBP1 - polypyrimidine tract binding protein 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5725

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables pre-mRNA binding	IDA IDA: Inferred from direct assay	16260624	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10653975	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in IRES-dependent viral translational initiation	IDA IDA: Inferred from direct assay	17947529	GOA
involved in IRES-dependent viral translational initiation	IMP IMP: Inferred from mutant phenotype	21518806	GOA
involved in negative regulation of RNA splicing	IDA IDA: Inferred from direct assay	18335065	GOA
involved in negative regulation of mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	15009664	GOA
involved in negative regulation of muscle cell differentiation	IDA IDA: Inferred from direct assay	21518792	GOA
involved in positive regulation of calcineurin-NFAT signaling cascade	IMP IMP: Inferred from mutant phenotype	23853098	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	16260624	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

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

PTBP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PTBP1	P26599	CFTR	Homo sapiens	P13569	Phage Display	39009827
Intra	PTBP1	P26599	SFPQ	Homo sapiens	P23246	Anti Bait CoIP	11514619
Intra	PTBP1	P26599	SFPQ	Homo sapiens	P23246	Anti Bait CoIP	15975576
Intra	PTBP1	P26599	SNRPA	Homo sapiens	P09012	Y2H	22365833
Intra	PTBP1	P26599	SNRPA	Homo sapiens	P09012	Y2H Array	25416956
Intra	PTBP1	P26599	SNRPA	Homo sapiens	P09012	Y2H Pooling	16189514
Intra	PTBP1	P26599	SNRPA	Homo sapiens	P09012	Y2H Array	31515488
Intra	PTBP1	P26599	SNRPA	Homo sapiens	P09012	Y2H Prey Pooling	25416956
Intra	PTBP1	P26599	RBM10	Homo sapiens	P98175	Y2H	22365833
Intra	PTBP1	P26599	QKI	Homo sapiens	Q96PU8	Y2H Array	16713569
Cross	PTBP1	P26599	hnrnpab.L	Crosspus laevis	Q7ZYE9	Pull Down	16373488
Cross	PTBP1	P26599	P29991-PRO_0000037940	Dengue virus type 2	P29991-PRO_0000037940	Y2H	21911577
Cross	PTBP1	P26599	P29991-PRO_0000308465	Dengue virus type 2	P29991-PRO_0000308465	Y2H	21911577

Cross: Cross-species interaction Intra: Intraspecies interaction

PTBP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83444	PTBP1 Antibody (YA3189)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P83444A	PTBP1 Antibody (YA3189)(PBS only)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P5960	PTBP1-RNA-binding inhibitor P6 TFA		98.59%	Unkown
HY-167832	PT109		99.20%	Unkown
HY-RS11351	PTBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17773	Ptbp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24240	Ptbp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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