ENSMUSG00000070436


Mus musculus

Features
Gene ID: ENSMUSG00000070436
  
Biological name :Serpinh1
  
Synonyms : P19324 / Serpin H1 / Serpinh1
  
Possible biological names infered from orthology : P50454 / serpin family H member 1
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: E1
Gene start: 99345376
Gene end: 99353239
  
Corresponding Affymetrix probe sets: 10565794 (MoGene1.0st)   1450843_a_at (Mouse Genome 430 2.0 Array)   1456733_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000146444
Ensembl peptide - ENSMUSP00000146515
Ensembl peptide - ENSMUSP00000147064
Ensembl peptide - ENSMUSP00000146969
Ensembl peptide - ENSMUSP00000091706
Ensembl peptide - ENSMUSP00000126390
Ensembl peptide - ENSMUSP00000146373
NCBI entrez gene - 12406     See in Manteia.
MGI - MGI:88283
RefSeq - NM_009825
RefSeq - XM_006507279
RefSeq - XM_006507278
RefSeq - NM_001111043
RefSeq - NM_001111044
RefSeq - NM_001285776
RefSeq Peptide - NP_001104513
RefSeq Peptide - NP_001104514
RefSeq Peptide - NP_001272705
RefSeq Peptide - NP_033955
swissprot - A0A140LHK0
swissprot - A0A140LHR4
swissprot - P19324
swissprot - A0A140LHD6
Ensembl - ENSMUSG00000070436
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 serpinh1aENSDARG00000075954Danio rerio
 serpinh1bENSDARG00000019949Danio rerio
 P13731ENSGALG00000011214Gallus gallus
 P50454ENSG00000149257Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O35684 / Serpini1 / serine (or cysteine) peptidase inhibitor, clade I, member 1 / Q99574* / serpin family I member 1*ENSMUSG0000002783426
Q9D7P9 / Serpinb12 / Serpin B12 / Q96P63* / serpin family B member 12*ENSMUSG0000005995626
Q9JK88 / Serpini2 / serine (or cysteine) peptidase inhibitor, clade I, member 2 / O75830* / serpin family I member 2*ENSMUSG0000003413924
Q9CQV3 / Serpinb11 / Serpin B11 / Q96P15* / serpin family B member 11 (gene/pseudogene)*ENSMUSG0000002632723
P32261 / Serpinc1 / serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 / P01008* / serpin family C member 1*ENSMUSG0000002671522
Q07235 / Serpine2 / serine (or cysteine) peptidase inhibitor, clade E, member 2 / P07093* / serpin family E member 2*ENSMUSG0000002624922
Serpine3 / serpin family E member 3 / A8MV23*ENSMUSG0000009115521
Q9D695 / Serpinb7 / Serpin B7 / O75635* / serpin family B member 7*ENSMUSG0000006700121
Serpine1 / serine (or cysteine) peptidase inhibitor, clade E, member 1 / P05121* / serpin family E member 1*ENSMUSG0000003741121


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR033547  Serpin H1
 IPR033830  Serpin H1 inhibitory domain
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003433 chondrocyte development involved in endochondral bone morphogenesis IMP
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0030199 collagen fibril organization IMP
 biological_processGO:0032964 collagen biosynthetic process IMP
 biological_processGO:0051604 protein maturation IMP
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005788 endoplasmic reticulum lumen IEA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISO
 cellular_componentGO:0045121 membrane raft ISO
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding IEA
 molecular_functionGO:0051082 unfolded protein binding IDA


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]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0000166 abnormal chondrocyte morphology "anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002132 abnormal respiratory system morphology "anomalous structure of pulmonary tissues " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002621 delayed neural tube closure "delayed fusion of the neuroepithelial layer in early development" [J:79790, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0002657 chondrodystrophy "abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002765 short fibula "reduced length of the lateral and smaller of bone of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:12736]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002823 abnormal rib development "anomalous formation of the bones forming the bony wall of the chest" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84754]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0002932 abnormal joint "defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 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]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0003419 delayed endochondral bone ossification "late onset of bone formation in bones that form from cartilage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0003723 abnormal long bone morphology "malformation of any of the several elongated bones of the extremities " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0004355 short radius "reduced length of the short bone of the lateral forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0004359 short ulna "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0004599 abnormal vertebral arch morphology "any structural anomaly of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0004624 abnormal thoracic cage "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0004711 persistence of notochord tissue "failure of notochord tissue to differentiate into the vertebral primordia during development resulting in the presence of notochord tissue at later stages than it is normally seen" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0005296 abnormal humerus morphology "malformation of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0005306 abnormal phalanx morphology "aberrant structure of any of the long bones of the digits" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0008271 abnormal bone ossification "any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0010988 abnormal bronchial cartilage morphology "any structural anomaly of the hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Msh2tm1Htr/Msh2tm1Htr,Smug1tm1a(EUCOMM)Hmgu/Smug1tm1a(EUCOMM)Hmgu,Ungtm1Tld/Ungtm1Tld
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6N

 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]
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Allelic Composition: Ece1tm1Reh/Ece1tm1Reh,Ece2tm1Ywa/Ece2tm1Ywa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

  


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






 

1 s.

 
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