ENSMUSG00000006498


Mus musculus

Features
Gene ID: ENSMUSG00000006498
  
Biological name :Ptbp1
  
Synonyms : polypyrimidine tract binding protein 1 / Ptbp1
  
Possible biological names infered from orthology : P26599
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: C1
Gene start: 79854427
Gene end: 79864771
  
Corresponding Affymetrix probe sets: 10364518 (MoGene1.0st)   10407390 (MoGene1.0st)   1424874_a_at (Mouse Genome 430 2.0 Array)   1450443_at (Mouse Genome 430 2.0 Array)   1458284_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000127783
Ensembl peptide - ENSMUSP00000132383
Ensembl peptide - ENSMUSP00000131296
Ensembl peptide - ENSMUSP00000130749
Ensembl peptide - ENSMUSP00000128449
Ensembl peptide - ENSMUSP00000059481
Ensembl peptide - ENSMUSP00000093109
Ensembl peptide - ENSMUSP00000126192
Ensembl peptide - ENSMUSP00000127507
NCBI entrez gene - 19205     See in Manteia.
MGI - MGI:97791
RefSeq - NM_001077363
RefSeq - NM_001283013
RefSeq - NM_008956
RefSeq Peptide - NP_032982
RefSeq Peptide - NP_001070831
RefSeq Peptide - NP_001269942
swissprot - Q8CB58
swissprot - E9QMW9
swissprot - Q922I7
swissprot - E9Q279
swissprot - E9Q0W3
swissprot - E9PZ39
swissprot - F7AXP1
swissprot - F7DCW4
swissprot - Q8BGJ5
Ensembl - ENSMUSG00000006498
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ptbp1aENSDARG00000019362Danio rerio
 ptbp1bENSDARG00000031907Danio rerio
 PTBP1ENSGALG00000001962Gallus gallus
 PTBP1ENSG00000011304Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ptbp3 / Q8BHD7 / Polypyrimidine tract-binding protein 3 / O95758*ENSMUSG0000002838278
Ptbp2 / Q91Z31 / Polypyrimidine tract-binding protein 2 / Q9UKA9*ENSMUSG0000002813470
Hnrnpl / Q8R081 / Heteroous nuclear ribonucleoprotein L / P14866* / heterogeneous nuclear ribonucleoprotein L*ENSMUSG0000001516526
Q921F4 / Hnrnpll / Heteroous nuclear ribonucleoprotein L-like / Q8WVV9* / heterogeneous nuclear ribonucleoprotein L like*ENSMUSG0000002409526


Protein motifs (from Interpro)
Interpro ID Name
 IPR000504  RNA recognition motif domain
 IPR006536  HnRNP-L/PTB
 IPR034798  Polypyrimidine tract-binding protein1/2/3, RNA recognition motif 2
 IPR035000  PTBP1, RNA recognition motif 1
 IPR035001  PTBP1, RNA recognition motif 3
 IPR035979  RNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0033119 negative regulation of RNA splicing IEA
 biological_processGO:0048025 negative regulation of mRNA splicing, via spliceosome IEA
 biological_processGO:0051148 negative regulation of muscle cell differentiation IEA
 biological_processGO:0075522 IRES-dependent viral translational initiation IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0036002 pre-mRNA binding IEA


Pathways (from Reactome)
Pathway description
FGFR2 alternative splicing
mRNA Splicing - Major Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0000440 domed skull 
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Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Emx1tm1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ppt1tm1.1Dprc/Ppt1tm1.1Dprc
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Emx1tm1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Emx1tm1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0001685 abnormal endoderm development "failure or abnormality in the formation of the endoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0001695 abnormal gastrulation "anomalous development and invagination of the embryonic germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
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Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Ppt1tm1.1Dprc/Ppt1tm1.1Dprc
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0001893 non-obstructive hydrocephaly "abnormal cerebrospinal fluid absorption where there is no obstruction to fluid flow in the ventricular system" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Emx1tm1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Emx1tm1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0002663 failure to form blastocele "developmental anomaly resulting in the absence of the cavity in the blastula of the developing embryo" [cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:19904]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0003424 premature neuronal precursor differentiation "earlier than normal transformation of neuronal precursor cells into neurons" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94391]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0003861 abnormal nervous system development "impaired or altered growth of the components of the nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0003954 abnormal Reichert s membrane "aberrant structure of the extraembryonic basement membrane that forms on the inner surface of the trophectoderm beginning at E6.0 and is secreted by the distal endoderm; required for the maternofetal exchange of nutrients and is important for the postgastrulation development" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0005032 abnormal ectoplacental cone 
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Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0010152 abnormal brain ependyma morphology "any structural anomaly of the cellular membrane that lines the brain ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0011056 abnormal brain ependyma motile cilium morphology "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Emx1tm1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Tbptm1Xjl/Tbp+,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

 MP:0011723 ectopic neuron "appearance of a neuron or group of neurons in a region where it is not normally found" [MGI:csmith]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0012065 increased astrocyte number "increase in the number of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord" [CL:0000127, MGI:csmith]
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Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0012203 abnormal neuronal stem cell morphology "any structural anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors" [CL:0000047]
Show

Allelic Composition: Ptbp1tm1Nobu/Ptbp1tm2Nobu,Tg(Nes-cre)1Sasa/0
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
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