ENSMUSG00000020051


Mus musculus

Features
Gene ID: ENSMUSG00000020051
  
Biological name :Pah
  
Synonyms : P16331 / Pah / Phenylalanine-4-hydroxylase
  
Possible biological names infered from orthology : P00439 / phenylalanine hydroxylase
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: C1
Gene start: 87521795
Gene end: 87584136
  
Corresponding Affymetrix probe sets: 10365545 (MoGene1.0st)   1454638_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000020241
Ensembl peptide - ENSMUSP00000151849
Ensembl peptide - ENSMUSP00000151566
Ensembl peptide - ENSMUSP00000151368
NCBI entrez gene - 18478     See in Manteia.
MGI - MGI:97473
RefSeq - NM_008777
RefSeq Peptide - NP_032803
swissprot - A0A1W2P781
swissprot - A0A1W2P6U4
swissprot - A0A1W2P7X8
swissprot - P16331
Ensembl - ENSMUSG00000020051
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pahENSDARG00000020143Danio rerio
 PAHENSGALG00000012754Gallus gallus
 PAHENSG00000171759Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tph2 / Q8CGV2 / Tryptophan 5-hydroxylase 2 / Q8IWU9* / tryptophan hydroxylase 2*ENSMUSG0000000676455
Tph1 / P17532 / tryptophan hydroxylase 1 / P17752*ENSMUSG0000004004653
Th / P24529 / tyrosine hydroxylase / P07101*ENSMUSG0000000021450


Protein motifs (from Interpro)
Interpro ID Name
 IPR001273  Aromatic amino acid hydroxylase
 IPR002912  ACT domain
 IPR005961  Phenylalanine-4-hydroxylase, tetrameric form
 IPR018301  Aromatic amino acid hydroxylase, iron/copper binding site
 IPR019773  Tyrosine 3-monooxygenase-like
 IPR019774  Aromatic amino acid hydroxylase, C-terminal
 IPR036329  Aromatic amino acid monoxygenase, C-terminal domain superfamily
 IPR036951  Aromatic amino acid hydroxylase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006559 L-phenylalanine catabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009072 aromatic amino acid family metabolic process IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004497 monooxygenase activity IEA
 molecular_functionGO:0004505 phenylalanine 4-monooxygenase activity ISO
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016714 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Phenylalanine and tyrosine catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Faslpr/Faslpr,Spp1tm1Rit/Spp1tm1Rit
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * MRL/Mp

 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: Bmp5se/Bmp5se
Genetic Background: involves: C3H * P

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Myo5ad/Myo5ad-97H
Genetic Background: involves: 101/H * C3H/HeH

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Faslpr/Faslpr,Spp1tm1Rit/Spp1tm1Rit
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * MRL/Mp

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

Allelic Composition: Faslpr/Faslpr,Spp1tm1Rit/Spp1tm1Rit
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * MRL/Mp

 MP:0001460 abnormal olfactory -discrimination memory "defects in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: involves: C3H * P

 MP:0001496 audiogenic seizures "a reflex seizure triggered by loud noises" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Faslpr/Faslpr,Spp1tm1Rit/Spp1tm1Rit
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * MRL/Mp

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: involves: C3H * P

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: involves: C3H * P

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: involves: C3H * P

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Pahenu1/Pahenu2
Genetic Background: involves: 101 * C3H * BTBR

Allelic Composition: Pahenu2/Pahenu2
Genetic Background: involves: BTBR

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0002063 abnormal learning/memory/conditioning "altered ability to receive, store or recall informational stimuli" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: involves: C3H * P

 MP:0002067 abnormal sensory capabilities/reflexes/nociception "inability or altered ability to respond to a sensory stimulus" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: involves: C3H * P

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0003638 abnormal response/metabolism to endogenous compounds "altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pahenu2/Pahenu2
Genetic Background: involves: BTBR

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0005311 abnormal circulating amino acid level "aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]
Show

Allelic Composition: Ndst1tm1Hgx/Ndst1tm1Hgx
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Pahenu1/Pahenu2
Genetic Background: involves: 101 * C3H * BTBR

Allelic Composition: Pahenu2/Pahenu2
Genetic Background: involves: BTBR

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo5ad/Myo5ad-97H
Genetic Background: involves: 101/H * C3H/HeH

 MP:0005322 abnormal serotonin level "anomalous concentration of biochemical messenger and regulator, found in the CNS, g.i. tract, and produced by platelets; it mediates neurotransmission, g.i. motility, hemostasis, and cardiovascular integrity " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pahenu2/Pahenu2
Genetic Background: involves: BTBR

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Myo5ad/Myo5ad-97H
Genetic Background: involves: 101/H * C3H/HeH

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pahenu2/Pahenu2
Genetic Background: involves: BTBR

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

 MP:0009358 environmentally induced seizures "relatively mild but sudden stimulation due to changes in ambient habitat including lighting, sounds, touching, and/ or moving cage" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Faslpr/Faslpr,Spp1tm1Rit/Spp1tm1Rit
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * MRL/Mp

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pahenu2/Pahenu2
Genetic Background: involves: BTBR

Allelic Composition: Pahenu3/Pahenu3
Genetic Background: involves: BTBR

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020051 Pah / P16331 / Phenylalanine-4-hydroxylase / P00439* / phenylalanine hydroxylase*  / complex






 

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