ENSMUSG00000020899


Mus musculus

Features
Gene ID: ENSMUSG00000020899
  
Biological name :Pfas
  
Synonyms : Pfas / Phosphoribosylformylglycinamidine synthase / Q5SUR0
  
Possible biological names infered from orthology : O15067
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B3
Gene start: 68985697
Gene end: 69008460
  
Corresponding Affymetrix probe sets: 10387222 (MoGene1.0st)   1455496_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000133984
Ensembl peptide - ENSMUSP00000021282
Ensembl peptide - ENSMUSP00000121808
NCBI entrez gene - 237823     See in Manteia.
MGI - MGI:2684864
RefSeq - NM_001159519
RefSeq Peptide - NP_001152991
swissprot - Q5SUR0
swissprot - F6RUL9
swissprot - G3UY86
Ensembl - ENSMUSG00000020899
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pfasENSDARG00000003750Danio rerio
 PFASENSG00000178921Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR010073  Phosphoribosylformylglycinamidine synthase
 IPR010918  PurM-like, C-terminal domain
 IPR017926  Glutamine amidotransferase
 IPR029062  Class I glutamine amidotransferase-like
 IPR036604  Phosphoribosylformylglycinamidine synthase subunit PurS-like superfamily
 IPR036676  PurM-like, C-terminal domain superfamily
 IPR036921  PurM-like, N-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006164 purine nucleotide biosynthetic process IEA
 biological_processGO:0006189 "de novo" IMP biosynthetic process IEA
 biological_processGO:0006541 glutamine metabolic process IEA
 biological_processGO:0009156 ribonucleoside monophosphate biosynthetic process IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0097065 anterior head development IMP
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004642 phosphoribosylformylglycinamidine synthase activity ISO
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Purine ribonucleoside monophosphate biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000097 short maxilla "reduced length of the upper jaw bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0000373 belly spot "the appearance of a round area of white fur on the belly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0000440 domed skull 
Show

Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

 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: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

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

Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0001300 ocular hypertelorism "increased distance between the eyes " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

 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: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0003961 decreased lean body mass "less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
Show

Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

 MP:0005175 non-pigmented tail tip "lack of color at the end of the tail " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
Show

Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0005459 decreased percent body fat "less fat, relative to the norm, as a percentage of total body weight" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

 MP:0006086 decreased body mass index "less than normal average of a measure of weight for height " [ncbi:NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

 MP:0006411 upturned snout "muzzle has a curve or tilt such that the tip points upwards" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

 MP:0008188 abnormal transitional stage B cell morphology "any structural anomaly of an immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection" [CL:0000818, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

 MP:0008525 decreased skull height "decrease in the distance between the cranial base and the upper domelike portion of the skull" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0008818 abnormal interfrontal bone morphology "any structural anomaly or presence of a bone between the frontal bones in the skull; an extra bony plate within the anterior fontanelle that is not usually present" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 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]
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Allelic Composition: Hsp90aa1Tg(Tyr)2396BOve/Hsp90aa1Tg(Tyr)2396BOve
Genetic Background: FVB/N-Hsp90aa1Tg(Tyr)2396BOve

 MP:0011862 decreased cranium length "having an decreased dorsal-to-ventral distance of the cranium" [MGI:mnk]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0030444 premature cranial synchondrosis closure "early fusion or ossification of one or more cranial base synchondroses relative to age- and gender-matched controls; can lead to midface hypoplasia, as seen in patients with specific forms of syndromic craniosynostosis" [PMID:24480760]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

 MP:0030466 alveolar process atrophy "acquired diminution of the size of the alveolar process associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Shhtm1Amc/Shhtm2Amc,Tg(Thy1-cre)703Vaw/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6

Allelic Composition: PfasSofa-2J/Pfas+
Genetic Background: B6(Cg)-PfasSofa-2J/GrsrJ

Allelic Composition: PfasSofa-3J/Pfas+
Genetic Background: B6(129S7)-PfasSofa-3J/GrsrJ

Allelic Composition: PfasSofa-4J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-4J/GrsrJ

Allelic Composition: PfasSofa-5J/Pfas+
Genetic Background: B6(129S1)-PfasSofa-5J/GrsrJ

  


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






 

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