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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 
Biological research products
for PTBP1    

Aliases
for PTBP1 gene

(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


Summaries
for PTBP1 gene

(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


Genomic Views
for PTBP1 gene

(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

Proteins
for PTBP1 gene

(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 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals PTBP1 Proteins
    Novus Biologicals PTBP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PTBP1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus TAS1641332
    GO:0030530heterogeneous nuclear ribonucleoprotein complex ----


    PTBP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PTBP1

    Protein Domains /
    Families
    for PTBP1 gene

    (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


    Function
    for PTBP1 gene

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

         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

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

    OriGene 3'-UTR Clone (see all 4): PTBP1
    Browse 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
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTBP1 (see all 7)
    OriGene shRNA RFP: PTBP1
    OriGene siRNA: PTBP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTBP1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PTBP1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTBP1 (see all 6)
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    GenScript: all cDNA clones in your preferred vector (see all 4): PTBP1 (NM_002819)
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    Cell Line
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    Search LifeMap BioReagents cell lines for PTBP1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTBP1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding TAS1906036
    GO:0005515protein binding IPI16713569
    GO:0008187poly-pyrimidine tract binding TAS1906036
    GO:0036002pre-mRNA binding IDA16260624


    PTBP1 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Ptbp1):
     no phenotypic analysis 

    PTBP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PTBP1 gene

    (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-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    		mRNA Splicing - Major Pathway1.00
    		mRNA Processing0.82
    		mRNA Splicing1.00
    		mRNA processing0.48
    		Processing of Capped Intron-Containing Pre-mRNA0.96
    2Translational Control
    		Translational Control1.00
    3Generic Transcription Pathway
    		Gene Expression0.46

    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 CentralTM 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 (P265991, 2, 3 ENSP000003494284) via UniProtKB, MINT, STRING, and/or I2D (see all 904)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP1Q153651, 2, 3, ENSP000003055564EBI-744534,EBI-946095 MINT-2855482 MINT-2862164 MINT-7947479 I2D: score=3 STRING: ENSP00000305556
    FUSP356372, 3, ENSP000002541084MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000254108
    PCBP2Q153662, 3, ENSP000003524384MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000352438
    NSFP464592, 3MINT-7945693 MINT-7947479 I2D: score=1 
    RANBP2P497922, 3MINT-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 IDQualified GO termEvidencePubMed IDs
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IDA--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006397mRNA processing TAS1906036
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--


    PTBP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PTBP1 gene

    (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 

    Transcripts
    for PTBP1 gene

    (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, 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
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTBP1 (see all 7)
    OriGene shRNA RFP: PTBP1
    OriGene siRNA: PTBP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTBP1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTBP1 (see all 6)
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    Primer
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    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

    Expression
    for PTBP1 gene

    (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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    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 
    NameCategory
    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
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    Orthologs
    for PTBP1 gene

    (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 heph1 , 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-11 , 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
    for PTBP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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


    Genomic Variants
    for PTBP1 gene

    (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)
    About This Section

    10/449 NCBI SNPs in PTBP1 are shown (see all 449)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs3519731,2
    		C,F,H,--795457(+) GCACCG/AGACGC 3 -- us2k110Minor allele frequency- A:0.13NA WA CSA EA 370
    rs1471710731,2
    		--795563(+) CTCGCC/GTGGAT 3 -- us2k10--------
    rs1395015761,2
    		--795564(+) TCGCCG/TGGATT 3 -- us2k10--------
    rs1496871201,2
    		--795604(+) CCTCCA/GTAGGT 3 -- us2k10--------
    rs1443561031,2
    		--795652(+) AATCCC/TGCTAA 3 -- us2k10--------
    rs350138781,2
    		C,--795685(-) CGGCCC/TGGAGT 3 -- us2k13Minor allele frequency- T:0.04NA 96
    rs104260841,2
    		C,F,H,--795716(+) CCGCAG/ACCTCC 3 -- us2k19Minor allele frequency- A:0.03NS EA NA WA 754
    rs81133561,2
    		C,A,--795816(+) NNNNAG/ACTCTG 3 -- us2k13Minor allele frequency- A:0.19WA NA 240
    rs1439042431,2
    		--795895(+) GGCCCA/GGGAGG 3 -- us2k10--------
    rs1167638411,2
    		F,--795964(+) GCCTCG/AAACTG 3 -- us2k11Minor allele frequency- A:0.14WA 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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    Disorders / Diseases
    for PTBP1 gene

    (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

    Publications
    for PTBP1 gene

    (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)
    About This Section

    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

    1. 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)
    2. 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)
    3. 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)
    4. Structure and RNA interactions of the N-terminal RRM domains of PTB. (PubMed id 15341728)1, 2, 9 Simpson P.J.... Matthews S. (2004)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)

    External Searches for PTBP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PTBP1 gene

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

    Other Databases showing PTBP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PTBP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    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.)
    About This Section
    		Patent Information for PTBP1 gene:
    Search GeneIP for patents involving PTBP1

    GeneCards and IP:
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