ENSMUSG00000019916


Mus musculus

Features
Gene ID: ENSMUSG00000019916
  
Biological name :P4ha1
  
Synonyms : P4ha1 / Prolyl 4-hydroxylase subunit alpha-1 / Q60715
  
Possible biological names infered from orthology : P13674
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: B4
Gene start: 59323296
Gene end: 59373304
  
Corresponding Affymetrix probe sets: 10363350 (MoGene1.0st)   1426519_at (Mouse Genome 430 2.0 Array)   1452094_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000009789
Ensembl peptide - ENSMUSP00000090170
Ensembl peptide - ENSMUSP00000101106
NCBI entrez gene - 18451     See in Manteia.
MGI - MGI:97463
RefSeq - NM_001316370
RefSeq - NM_001316371
RefSeq - NM_011030
RefSeq Peptide - NP_001303299
RefSeq Peptide - NP_001303300
RefSeq Peptide - NP_035160
swissprot - Q60715
swissprot - E9Q7B0
Ensembl - ENSMUSG00000019916
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 p4ha1aENSDARG00000033537Danio rerio
 p4ha1bENSDARG00000071082Danio rerio
 P4HA1ENSGALG00000004325Gallus gallus
 P4HA1ENSG00000122884Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P4ha2 / Q60716 / Prolyl 4-hydroxylase subunit alpha-2 / O15460*ENSMUSG0000001890661
P4ha3 / prolyl 4-hydroxylase subunit alpha 3 / Q7Z4N8*ENSMUSG0000005104835


Protein motifs (from Interpro)
Interpro ID Name
 IPR005123  Oxoglutarate/iron-dependent dioxygenase
 IPR006620  Prolyl 4-hydroxylase, alpha subunit
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR013547  Prolyl 4-hydroxylase alpha-subunit, N-terminal
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
 biological_processGO:0030199 collagen fibril organization IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005788 endoplasmic reticulum lumen IEA
 cellular_componentGO:0016222 procollagen-proline 4-dioxygenase complex IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 molecular_functionGO:0004656 procollagen-proline 4-dioxygenase activity IMP
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0031418 L-ascorbic acid binding IEA
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0003044 impaired basement membrane formation "defect in the organization and/or placement of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0003658 abnormal capillaries "malformation in the minute blood vessels that connect arterioles and venules" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96775]
Show

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 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: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0011261 abnormal limb mesenchyme morphology "any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells" [ISBN:0-683-40008-8, MGI:csmith]
Show

Allelic Composition: Ift57tm2Dwni/Ift57tm2Dwni
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000039462 Q05306 / Col10a1 / Collagen alpha-1(X) chain / Q03692* / collagen type X alpha 1 chain*  / reaction
 ENSMUSG00000026043 Col3a1 / P08121 / Collagen alpha-1(III) chain / P02461* / collagen type III alpha 1 chain*  / reaction
 ENSMUSG00000019916 P4ha1 / Q60715 / Prolyl 4-hydroxylase subunit alpha-1 / P13674*  / complex
 ENSMUSG00000029661 Col1a2 / Q01149 / Collagen alpha-2(I) chain / P08123* / collagen type I alpha 2 chain*  / reaction
 ENSMUSG00000018906 P4ha2 / Q60716 / Prolyl 4-hydroxylase subunit alpha-2 / O15460*  / complex
 ENSMUSG00000001506 Col1a1 / P11087 / Collagen alpha-1(I) chain / P02452* / collagen type I alpha 1 chain*  / reaction
 ENSMUSG00000051048 P4ha3 / prolyl 4-hydroxylase subunit alpha 3 / Q7Z4N8*  / complex
 ENSMUSG00000025130 P4hb / P09103 / prolyl 4-hydroxylase, beta polypeptide / P07237* / prolyl 4-hydroxylase subunit beta*  / reaction / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr