ENSMUSG00000073678


Mus musculus

Features
Gene ID: ENSMUSG00000073678
  
Biological name :Pgap1
  
Synonyms : GPI inositol-deacylase / Pgap1 / Q3UUQ7
  
Possible biological names infered from orthology : post-GPI attachment to proteins 1 / Q75T13
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: C1.2
Gene start: 54472994
Gene end: 54557684
  
Corresponding Affymetrix probe sets: 10354647 (MoGene1.0st)   10354649 (MoGene1.0st)   1431169_at (Mouse Genome 430 2.0 Array)   1436317_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000095346
NCBI entrez gene - 241062     See in Manteia.
MGI - MGI:2443342
RefSeq - NM_001163314
RefSeq Peptide - NP_001156786
swissprot - Q3UUQ7
Ensembl - ENSMUSG00000073678
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pgap1ENSDARG00000062465Danio rerio
 ENSGALG00000030789Gallus gallus
 PGAP1ENSG00000197121Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR012908  GPI inositol-deacylase PGAP1-like
 IPR029058  Alpha/Beta hydrolase fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006506 GPI anchor biosynthetic process IEA
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0009880 embryonic pattern specification IMP
 biological_processGO:0009948 anterior/posterior axis specification IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0015798 myo-inositol transport IEA
 biological_processGO:0021871 forebrain regionalization IMP
 biological_processGO:0060322 head development IMP
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016788 hydrolase activity, acting on ester bonds IEA
 molecular_functionGO:0042578 phosphoric ester hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Attachment of GPI anchor to uPAR


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000087 absent mandible "missing the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0000157 abnormal sternum morphology "malformed long flat bone of the chest; articulates with clavicle and first seven rib pairs" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212]
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Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Pgap1oto/Pgap1+
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0000480 increased number of ribs "greater than normal numbers of the pairs of bony structures that make up the body wall" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

Allelic Composition: Pgap1oto/Pgap1tm1Asp
Genetic Background: involves: 129 * C57BL/6J * STOCK In(1)1Rk/J

 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: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1oto
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0000830 abnormal diencephalon morphology "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1oto
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0000934 abnormal telencephalon development "malformed or incomplete differentiation of the anterior division of the embryonic prosencephalon " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0000936 small telencephalic vesicles "reduced size of the paired diverticula of the telencephalon, from which the forebrain develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:49840]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

Allelic Composition: Pgap1oto/Pgap1tm1Asp
Genetic Background: involves: 129 * C57BL/6J * STOCK In(1)1Rk/J

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: B6.Cg-Pgap1oto

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

Allelic Composition: Pgap1oto/Pgap1tm1Asp
Genetic Background: involves: 129 * C57BL/6J * STOCK In(1)1Rk/J

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: B6.Cg-Pgap1oto

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
Show

Allelic Composition: Pgap1oto/Pgap1tm1Asp
Genetic Background: involves: 129 * C57BL/6J * STOCK In(1)1Rk/J

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1oto
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0002177 abnormal outer ear morphology "malformation or malfunction of any components of the auricles or external acoustic meatus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0002252 abnormal oropharynx morphology "structural anomaly of the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Dtx1tm1.1Mzl/Dtx1tm1.1Mzl,Tg(Cd4-cre)1Cwi/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0003036 vertebral transformation "homeotic transformation of a specific vertebrae to adopt the fate of another" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

Allelic Composition: Pgap1oto/Pgap1+
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0003743 abnormal facial morphology "anomalous structure or development of the face" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0004541 absent auditory tube "absence of the tube connecting the tympanic cavity and the nasopharynx" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0004592 small mandible "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0004615 cervical vertebral transformation "homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

Allelic Composition: Pgap1oto/Pgap1+
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0004616 lumbar vertebral transformation "homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

Allelic Composition: Pgap1oto/Pgap1+
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0004618 thoracic vertebral transformation "homeotic transformation of any thoracic vertebrae to adopt the fate of another vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
Show

Allelic Composition: Gata3jal/Gata3+
Genetic Background: C3H/HeJ-Gata3jal/J

 MP:0005163 cyclopia "a congenital defect in which the two orbits are united to form a single cavity containing one eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60303]
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Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0006197 ocular hypotelorism "the distance between the eyes is reduced" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0006290 proboscis "a long, cylindric protuberance of the face that, in cyclopia or ethmocephaly, represents the nose" [J:92058, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: B6.Cg-Pgap1oto

 MP:0009578 otocephaly "a structural anomaly of the head consisting of absence or malformation of the lower jaw and the ears united or closely approaching below the face" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0009903 abnormal medial nasal prominence morphology "any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0010335 fused first branchial arch "the first arch fails to fully divide along the midline" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: B6.Cg-Pgap1oto

 MP:0011759 absent Rathke s pouch "absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed" [MGI:anna]
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Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0012084 truncated foregut "shortened foregut that terminates abruptly as if having an end or point cut off" [MGI:anna]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0030043 small forehead "presence of an abnormally small forehead" [MGI:anna]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

 MP:0030067 narrow face "a reduction in the width of the upper and lower face" [MGI:anna]
Show

Allelic Composition: Pgap1oto/Pgap1oto
Genetic Background: involves: STOCK In(1)1Rk/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000046223 Plaur / P35456 / plasminogen activator, urokinase receptor / Q03405*  / reaction






 

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