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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PTBP1 Gene

protein-coding GIFtS: 61
GCID: GC19P000797

polypyrimidine tract binding protein 1

(Previous name: polypyrimidine tract binding protein (heterogeneous nuclear...)
(Previous symbol: PTB)

Explore 30 diseases affiliated with
PTBP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Polypyrimidine Tract Binding Protein 1¹ ²		Polypyrimidine Tract Binding Protein (Heterogeneous Nuclear Ribonucleoprotein I)¹ ²
PTB¹ ² ³ ⁵		Heterogeneous Nuclear Ribonucleoprotein I² ³
HNRNP-I¹ ²		57 KDa RNA-Binding Protein PPTB-1² ³
HNRPI¹ ²		HnRNP I² ³
PTB-1¹ ²		HNRNPI² ⁵
PTB2¹ ²		PTB-T²
PTB3¹ ²		Heterogeneous Nuclear Ribonucleoprotein Polypeptide I²
PTB4¹ ²		Polypyrimidine Tract-Binding Protein 1²
PPTB¹		RNA-Binding Protein²

External Ids:	HGNC: 9583¹	Entrez Gene: 5725²	Ensembl: ENSG00000011304⁷	OMIM: 600693⁵	UniProtKB: P26599³

Export aliases for PTBP1 gene to outside databases

Previous GC identifers: GC19P000856 GC19P000737 GC19P000748 GC19P000567

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PTBP1:

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)

UniProtKB/Swiss-Prot: PTBP1_HUMAN, P26599

Function: Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon

skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May

promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of

U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation

of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10

Gene Wiki entry for PTBP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011255.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PTBP1 gene promoter:
AP-2alpha isoform 3 AP-2alpha isoform 2 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PTBP1 promoter sequence

Search SABiosciences Chromatin IP Primers for PTBP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTBP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3

PTBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTBP1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P000797: view genomic region (about GC identifiers)

Start:	797,075 bp from pter	End:	812,327 bp from pter
Size:	15,253 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PTBP1_HUMAN, P26599 (See protein sequence)

Recommended Name: Polypyrimidine tract-binding protein 1

Size: 531 amino acids; 57221 Da

Subunit: Monomer. Part of a ternary complex containing KHSRP, PTBP1, PTBP2 and HNRPH1. Interacts with RAVER1 and SFPQ

Subcellular location: Nucleus

6/9 PDB 3D structures from and Proteopedia for PTBP1 (see all 9):

1QM9 (3D)

1SJQ (3D)

1SJR (3D)

2AD9 (3D)

2ADB (3D)

2ADC (3D)

Secondary accessions: Q9BUQ0

Alternative splicing: 3 isoforms: P26599-1 P26599-2 P26599-3

Explore the universe of human proteins at neXtProt for PTBP1: NX_P26599

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P26599

PTBP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_002810.1 NP_114367.1 NP_114368.1

ENSEMBL proteins:

ENSP00000349428 ENSP00000014112 ENSP00000468565 ENSP00000466250 ENSP00000408096

ENSP00000465652 ENSP00000465825 ENSP00000465451 ENSP00000342332

Reactome Protein details: P26599
Human Recombinant Protein Products for PTBP1:

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	Novus Biologicals PTBP1 Proteins Novus Biologicals PTBP1 Lysates
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	Uscn Proteins for PTBP1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--
GO:0005730	nucleolus	TAS	1641332
GO:0030530	heterogeneous nuclear ribonucleoprotein complex	--	--

PTBP1 for ontologies About GeneDecksing

PTBP1 Antibody Products:

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Assay Products for PTBP1:

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	Uscn ELISAs and CLIAs for PTBP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PTBP1 for domains About GeneDecksing

3 InterPro domains/families:

IPR006536 HnRNP-L_PTB

IPR012677 Nucleotide-bd_a/b_plait

IPR000504 RRM_dom

Graphical View of Domain Structure for InterPro Entry P26599

ProtoNet protein and cluster: P26599

1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

UniProtKB/Swiss-Prot: PTBP1_HUMAN, P26599

Similarity: Contains 4 RRM (RNA recognition motif) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PTBP1_HUMAN, P26599

Function: Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon

skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May

promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of

U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation

of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003723	RNA binding	TAS	1906036
GO:0005515	protein binding	IPI	16713569
GO:0008187	poly-pyrimidine tract binding	TAS	1906036
GO:0036002	pre-mRNA binding	IDA	16260624

PTBP1 for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Ptbp1):

no phenotypic analysis

PTBP1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PTBP1

miRNA Products:		miRTarBase miRNAs that target PTBP1: hsa-mir-124 (MIRT002647), hsa-mir-1 (MIRT001345)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTBP1
		8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate PTBP1 (see all 63):
		hsa-miR-193a-3p hsa-miR-429 hsa-miR-330-5p hsa-miR-106a hsa-miR-374a hsa-miR-138-2* hsa-miR-507 hsa-miR-548l

		SwitchGear 3'UTR luciferase reporter plasmid: PTBP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTBP1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

mRNA Splicing - Major Pathway

mRNA Splicing - Major Pathway	1.00	mRNA Processing	0.82
mRNA Splicing	1.00	mRNA processing	0.48
Processing of Capped Intron-Containing Pre-mRNA	0.96

Translational Control

Translational Control

1.00

Generic Transcription Pathway

Gene Expression

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for PTBP1

Translational Control

1 BioSystems Pathway for PTBP1

mRNA processing

5 Reactome Pathways for PTBP1

	mRNA Splicing - Major Pathway
	mRNA Splicing
	Gene Expression
	mRNA Processing
	Processing of Capped Intron-Containing Pre-mRNA

PTBP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PTBP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/904 Interacting proteins for PTBP1 (P26599^{1, 2, 3} ENSP00000349428⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 904)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PCBP1	Q15365¹^,²^,³, ENSP00000305556⁴	EBI-744534,EBI-946095 MINT-2855482 MINT-2862164 MINT-7947479 I2D: score=3 STRING: ENSP00000305556
FUS	P35637²^,³, ENSP00000254108⁴	MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000254108
PCBP2	Q15366²^,³, ENSP00000352438⁴	MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000352438
NSF	P46459²^,³	MINT-7945693 MINT-7947479 I2D: score=1
RANBP2	P49792²^,³	MINT-7945693 MINT-7947479 I2D: score=1

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	--
GO:0000398	mRNA splicing, via spliceosome	TAS	--
GO:0006397	mRNA processing	TAS	1906036
GO:0008380	RNA splicing	TAS	--
GO:0010467	gene expression	TAS	--

PTBP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PTBP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PTBP1
5 Novoseek chemical compound relationships for PTBP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyrimidine	62.2	26	17239394 (5), 9858533 (4), 8289396 (1), 11172810 (1) (see all 13)
poly c	51	1	12527772 (1)
oligonucleotide	15.9	2	16179478 (1), 14559795 (1)
adenylate	10.8	1	9858533 (1)
atp	0	1	9111366 (1)

Search CenterWatch for drugs/clinical trials and news about PTBP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PTBP1 gene (4 alternative transcripts):

NM_002819.4 NM_031990.3 NM_031991.3 NM_175847.2

Unigene Cluster for PTBP1:

Polypyrimidine tract binding protein 1

Hs.172550 [show with all ESTs]

Unigene Representative Sequence: NM_002819

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000356948(uc002lpp.2) ENST00000590887 ENST00000349038(uc002lpr.2)

ENST00000586481 ENST00000586944 ENST00000585535 ENST00000394601(uc002lpq.2)

ENST00000589575 ENST00000587191 ENST00000587094 ENST00000592113 ENST00000585956

ENST00000587136 ENST00000592804 ENST00000589569 ENST00000589883 ENST00000589770

ENST00000585932

miRNA Products:		OriGene 3'-UTR Clone (see all 4): PTBP1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTBP1
		8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate PTBP1 (see all 63):
		hsa-miR-193a-3p hsa-miR-429 hsa-miR-330-5p hsa-miR-106a hsa-miR-374a hsa-miR-138-2* hsa-miR-507 hsa-miR-548l

		SwitchGear 3'UTR luciferase reporter plasmid: PTBP1 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTBP1

Additional cDNA sequence:

BC002397.2 BC004383.1 BC013694.1 BC023219.1 BT006819.1 X60648.1 X62006.1 X65371.1

X65372.1 X66975.1

24/59 DOTS entries (see all 59):

DT.40213005 DT.408204 DT.100640038 DT.100687731 DT.91763165 DT.95264147 DT.91763170 DT.95084898

DT.100687740 DT.91763147 DT.99944030 DT.100863401 DT.100687725 DT.100059676 DT.100638120 DT.100687743

DT.100687728 DT.100687741 DT.95143790 DT.100687735 DT.100687737 DT.100770633 DT.75143311 DT.100687736

24/1132 AceView cDNA sequences (see all 1132):

CR617988 AA976876 AW167758 BG250174 BF732876 CR613533 BU191446 BC004383

BU176279 W67313 BM924408 AI971380 BM928387 AW614890 BU956468 AA344309

AI884744 BQ927017 BM462779 AI917639 BM794784 BQ776494 NM_002819 CR621295

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for PTBP1 (see all 21) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	·	8c	·	8d	^	9a	·	9b	·	9c	·	9d	^	10a	·	10b	^	11a	·	11b	·
SP1:																																											-
SP2:																																											-
SP3:
SP4:																																											-
SP5:																					-		-		-		-																-

ExUns:	11c	^	12a	·	12b	^	13	^	14a	·	14b	·	14c	^	15a	·	15b	·	15c	^	16
SP1:
SP2:	-		-
SP3:
SP4:	-		-
SP5:

ECgene alternative splicing isoforms for PTBP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PTBP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCTGGGGC

About this image

PTBP1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Endoderm-like cells (Generation of hepato...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PTBP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PTBP1

SOURCE GeneReport for Unigene cluster: Hs.172550

SABiosciences Custom PCR Arrays for PTBP1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTBP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTBP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTBP1 gene from 8/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PTBP1¹	polypyrimidine tract binding protein 1	81.12(n) 95.06(a)		420098 NM_001030935.1 NP_001026106.1
lizard (Anolis carolinensis)	Reptilia	PTBP1⁶	--	60(a)	1 ↔ 1	GL344833.1(4884-16591)
African clawed frog (Xenopus laevis)	Amphibia	BC045068.1²	--	77.7(n)		BC045068.1
zebrafish (Danio rerio)	Actinopterygii	57045016²	--	75.18(n)		57045016
fruit fly (Drosophila melanogaster)	Insecta	heph^{1 , 3}	mRNA splicing RNA binding³ hephaestus¹	52(a)³ 58.05(n)¹ 58.55(a)¹		48571¹ NM_176603.2¹ NP_788780.1¹
worm (Caenorhabditis elegans)	Secernentea	ptb-1^{1 , 3}	polypyrimidine tract binding protein³ Protein PTB-1¹	49(a)³ 56.18(n)¹ 54.09(a)¹		174647¹ NM_171035.3¹ NP_741041.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	PTB3¹	polypyrimidine tract-binding protein 3	48.46(n) 40.86(a)		840918 NM_001084204.1 NP_001077673.1
rice (Oryza sativa)	Liliopsida	Os01g0867800¹	hypothetical protein	50.16(n) 40.85(a)		4325048 NM_001051451.1 NP_001044916.1

ENSEMBL Gene Tree for PTBP1 (if available)
TreeFam Gene Tree for PTBP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PTBP1 gene

PTBP3² HNRPLL² PTBP2² HNRNPL²

3 SIMAP similar genes for PTBP1 using alignment to 7 protein entries: PTBP1_HUMAN (see all proteins):

PTBP2 PTBP3 MATR3

PTBP1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for PTBP1
PGOHUM00000248204 PGOHUM00000249595

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs351973^1,2	C,F,H	--	795457(+)	`GCACCG/AGACGC`	3	--	us2k¹		10		NA WA CSA EA	370
rs147171073^1,2		--	795563(+)	`CTCGCC/GTGGAT`	3	--	us2k¹		0	--	--	--	--
rs139501576^1,2		--	795564(+)	`TCGCCG/TGGATT`	3	--	us2k¹		0	--	--	--	--
rs149687120^1,2		--	795604(+)	`CCTCCA/GTAGGT`	3	--	us2k¹		0	--	--	--	--
rs144356103^1,2		--	795652(+)	`AATCCC/TGCTAA`	3	--	us2k¹		0	--	--	--	--
rs35013878^1,2	C	--	795685(-)	`CGGCCC/TGGAGT`	3	--	us2k¹		3		NA	96
rs10426084^1,2	C,F,H	--	795716(+)	`CCGCAG/ACCTCC`	3	--	us2k¹		9		NS EA NA WA	754
rs8113356^1,2	C,A	--	795816(+)	`NNNNAG/ACTCTG`	3	--	us2k¹		3		WA NA	240
rs143904243^1,2		--	795895(+)	`GGCCCA/GGGAGG`	3	--	us2k¹		0	--	--	--	--
rs116763841^1,2	F	--	795964(+)	`GCCTCG/AAACTG`	3	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for PTBP1 (797075 - 812327 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PTBP1
2 CNVs: 73267 30052

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PTBP1 for disorders           About GeneDecksing

OMIM gene information: 600693    OMIM disorders: --

20/30 diseases for PTBP1 (see all 30):    About MalaCards

human t-cell leukemia virus type 2 mouth disease myasthenic syndrome congenital myasthenic syndrome

frontotemporal dementia enophthalmos cytomegalovirus infection hepatitis c

hepatitis a cystic fibrosis multiple myeloma t-cell leukemia

glioblastoma dementia astrocytoma hepatitis b

hepatitis lung adenocarcinoma myeloma fibrosis

1 disease from the University of Copenhagen DISEASES database for PTBP1:

Tuberculosis

10 Novoseek disease relationships for PTBP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
foot-and-mouth disease	49.4	3	16314455 (1), 10364367 (1), 17445855 (1)
hepatitis c	42.2	12	10938288 (2), 15669107 (2), 16051805 (1), 7666538 (1) (see all 7)
leukemia t-cell	28.3	2	11172810 (1), 7474099 (1)
glioblastoma multiforme	13.4	2	10728679 (2)
astrocytoma	4.16	2	14769134 (1), 10728679 (1)
virus infection	1.93	4	16314455 (1), 10364367 (1), 17445855 (1)
glioblastoma	0.529	1	14769134 (1)
tumors	0	20	17310993 (6), 14769134 (4), 18499661 (2), 10728679 (2) (see all 6)
cancer	0	11	18499661 (4), 20010808 (1)
immunodeficiency	0	2	11172810 (1)

Human Genome Epidemiology (HuGE) Navigator: PTBP1 (1 document)

Export disorders for PTBP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PTBP1 gene, integrated from 9 sources (see all 220):
(articles sorted by number of sources associating them with PTBP1)

Utopia: connect your pdf to the dynamic
world of online information

Characterization and molecular cloning of polypyrimidine tract- binding protein: a component of a complex necessary for pre-mRNA splicing. (PubMed id 1906036)^{1, 2, 3} Patton J.G.... Nadal-Ginard B. (1991)
hnRNP I, the polypyrimidine tract-binding protein: distinct nuclear localization and association with hnRNAs. (PubMed id 1641332)^{1, 2, 9} Ghetti A.... Dreyfuss G. (1992)
Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene. (PubMed id 11024286)^{1, 3, 9} Romanelli M.G....Morandi C. (2000)
Structure and RNA interactions of the N-terminal RRM domains of PTB. (PubMed id 15341728)^{1, 2, 9} Simpson P.J.... Matthews S. (2004)
Structure of PTB bound to RNA: specific binding and implications for splicing regulation. (PubMed id 16179478)^{1, 2, 9} Oberstrass F.C....Allain F.H. (2005)
Structure of the two most C-terminal RNA recognition motifs of PTB using segmental isotope labeling. (PubMed id 16362043)^{1, 2, 9} Vitali F....Allain F.H. (2006)
Structure of tandem RNA recognition motifs from polypyrimidine tract binding protein reveals novel features of the RRM fold. (PubMed id 10856256)^{1, 2, 9} Conte M.R....Curry S. (2000)
RBM4 down-regulates PTB and antagonizes its activity in muscle cell-specific alternative splicing. (PubMed id 21518792)^{1, 2} Lin J.C. and Tarn W.Y. (2011)
Exon selection in alpha-tropomyosin mRNA is regulated by the antagonistic action of RBM4 and PTB. (PubMed id 16260624)^{1, 2} Lin J.C. and Tarn W.Y. (2005)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5725	HGNC: 9583	AceView: PTBP1	Ensembl:ENSG00000011304	euGenes: HUgn5725
ECgene: PTBP1	H-InvDB: PTBP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PTBP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PTBP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PTBP1 gene:
Search GeneIP for patents involving PTBP1

GeneCards and IP:
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polypyrimidine tract binding protein 1

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PTBP1 Gene

polypyrimidine tract binding protein 1

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