ENSMUSG00000028641


Mus musculus

Features
Gene ID: ENSMUSG00000028641
  
Biological name :P3h1
  
Synonyms : P3h1 / Prolyl 3-hydroxylase 1 / Q3V1T4
  
Possible biological names infered from orthology : Q32P28
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: D2.1
Gene start: 119232915
Gene end: 119248975
  
Corresponding Affymetrix probe sets: 10507612 (MoGene1.0st)   1421462_a_at (Mouse Genome 430 2.0 Array)   1452752_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000112504
Ensembl peptide - ENSMUSP00000119695
Ensembl peptide - ENSMUSP00000030393
Ensembl peptide - ENSMUSP00000080312
Ensembl peptide - ENSMUSP00000099723
NCBI entrez gene - 56401     See in Manteia.
MGI - MGI:1888921
RefSeq - NM_001286148
RefSeq - NM_019782
RefSeq - NM_019783
RefSeq - NM_001042411
RefSeq Peptide - NP_001035874
RefSeq Peptide - NP_062756
RefSeq Peptide - NP_062757
RefSeq Peptide - NP_001273077
swissprot - Q3V1T4
swissprot - F2Z499
swissprot - A2A7Q5
swissprot - A6PW84
Ensembl - ENSMUSG00000028641
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 p3h1ENSDARG00000071212Danio rerio
 P3H1ENSGALG00000004833Gallus gallus
 P3H1ENSG00000117385Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P3h2 / Q8CG71 / Prolyl 3-hydroxylase 2 / Q8IVL5*ENSMUSG0000003816845
P3h3 / Q8CG70 / Prolyl 3-hydroxylase 3 / Q8IVL6*ENSMUSG0000002319140
P3h4 / Q8K2B0 / Endoplasmic reticulum protein SC65 / Q92791* / prolyl 3-hydroxylase family member 4 (non-enzymatic)*ENSMUSG0000000693118
Crtap / Q9CYD3 / Cartilage-associated protein / O75718*ENSMUSG0000003243117


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006457 protein folding ISO
 biological_processGO:0018126 protein hydroxylation ISO
 biological_processGO:0019511 peptidyl-proline hydroxylation IEA
 biological_processGO:0030199 collagen fibril organization IMP
 biological_processGO:0030278 regulation of ossification IMP
 biological_processGO:0032963 collagen metabolic process IBA
 biological_processGO:0050708 regulation of protein secretion ISO
 biological_processGO:0050821 protein stabilization ISO
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060348 bone development ISO
 biological_processGO:1901874 negative regulation of post-translational protein modification ISO
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005604 basement membrane ISO
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IBA
 cellular_componentGO:0005886 plasma membrane TAS
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0019797 procollagen-proline 3-dioxygenase activity ISO
 molecular_functionGO:0031418 L-ascorbic acid binding IEA
 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:0000060 delayed bone ossification "late onset of the formation of bone" [J:40203]
Show

Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: P3h1tm1.1Brle/P3h1tm1.1Brle
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000069 kyphoscoliosis "kyphosis combined with scoliosis" [MGI:CML, J:66943]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: P3h1tm1.1Brle/P3h1tm1.1Brle
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0001199 thin skin "reduced thickness of the outer protective layer of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 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: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0005503 abnormal tendon morphology "structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:45509]
Show

Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0009346 decreased cancellous bone thickness "thinner than normal bone with a lattice-like or spongy structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: P3h1tm1.1Brle/P3h1tm1.1Brle
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0009826 abnormal dermis reticular layer collagen network "an anomaly in the amount or arrangement of the criss-crossing collagen fibers that form a strong elastic network normally arranged in parallel to the surface of the skin" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 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: Usp18ity9/Usp18tm1Dez
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Ncoa3tm1b(EUCOMM)Wtsi/Ncoa3+
Genetic Background: C57BL/6N-Ncoa3tm1b(EUCOMM)Wtsi/H

 MP:0010869 decreased bone trabecula number "decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: P3h1tm1.1Brle/P3h1tm1.1Brle
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0010873 decreased trabecular bone mass "reduced total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: P3h1tm1.1Brle/P3h1tm1.1Brle
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0010879 decreased trabecular bone volume "decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: P3h1tm1.1Brle/P3h1tm1.1Brle
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011642 abnormal bone collagen fibril morphology "any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity" [MGI:csmith]
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Allelic Composition: P3h1tm1.1Brle/P3h1tm1.1Brle
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Ncoa3tm1b(EUCOMM)Wtsi/Ncoa3+
Genetic Background: C57BL/6N-Ncoa3tm1b(EUCOMM)Wtsi/H

 MP:0012000 abnormal limb position "anomaly in the location of the limbs on the body relative to other body parts or axes" [MGI:csmith]
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Allelic Composition: Ncoa3tm1b(EUCOMM)Wtsi/Ncoa3+
Genetic Background: C57BL/6N-Ncoa3tm1b(EUCOMM)Wtsi/H

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032383 Ppib / P24369 / peptidylprolyl isomerase B / P23284*  / complex
 ENSMUSG00000032431 Crtap / Q9CYD3 / Cartilage-associated protein / O75718*  / complex






 

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