ENSMUSG00000033793


Mus musculus

Features
Gene ID: ENSMUSG00000033793
  
Biological name :Atp6v1h
  
Synonyms : Atp6v1h / Q8BVE3 / V-type proton ATPase subunit H
  
Possible biological names infered from orthology : ATPase H+ transporting V1 subunit H / Q9UI12
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: A1
Gene start: 5070018
Gene end: 5162529
  
Corresponding Affymetrix probe sets: 10344637 (MoGene1.0st)   1415826_at (Mouse Genome 430 2.0 Array)   1447659_x_at (Mouse Genome 430 2.0 Array)   1457639_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000040756
Ensembl peptide - ENSMUSP00000141797
Ensembl peptide - ENSMUSP00000141636
Ensembl peptide - ENSMUSP00000141440
Ensembl peptide - ENSMUSP00000141264
NCBI entrez gene - 108664     See in Manteia.
MGI - MGI:1914864
RefSeq - XM_006495436
RefSeq - NM_001310442
RefSeq - NM_133826
RefSeq - XM_006495433
RefSeq Peptide - NP_598587
RefSeq Peptide - NP_001297371
swissprot - A0A0A6YWP6
swissprot - Q8BVE3
swissprot - A0A0A6YW86
swissprot - A0A0A6YVU0
swissprot - A0A0A6YX18
Ensembl - ENSMUSG00000033793
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atp6v1hENSDARG00000006370Danio rerio
 ATP6V1HENSGALG00000013621Gallus gallus
 Q9UI12ENSG00000047249Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR004908  ATPase, V1 complex, subunit H
 IPR011987  ATPase, V1 complex, subunit H, C-terminal
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007035 vacuolar acidification IBA
 biological_processGO:0015991 ATP hydrolysis coupled proton transport IEA
 cellular_componentGO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain IEA
 cellular_componentGO:0005765 lysosomal membrane IBA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0046961 proton-transporting ATPase activity, rotational mechanism IEA


Pathways (from Reactome)
Pathway description
ROS, RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000066 osteoporosis "reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0000194 hypercalcemia "abnormally high concentration of calcium ions in the circulating blood " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0000198 hypophosphatemia "abnormally low concentrations of phosphates in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0001541 abnormal osteoclast function "reduced ability or inability of osteoclasts to absorb and remove osseous tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
Show

Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0004016 decreased bone mass "a reduction in the total amount of bone tissue contained in the skeleton" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0004986 abnormal osteoblast morphology "any structural anomaly of a bone-forming cell, which normally forms an osseous matrix (osteoid) in which it becomes enclosed as an osteocyte" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0004989 decreased osteoblast cell number "reduction in the number of the bone-forming cells, which normally form an osseous matrix (osteoid) in which they become enclosed as an osteocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0008396 abnormal osteoclast differentiation "atypical production of or inability to produce bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 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"]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0010876 decreased bone volume "reduced amount of space occupied by bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 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: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0011585 decreased alkaline phosphatase activity "reduced ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum" [GO:0004035]
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Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0020040 decreased bone ossification "decrease 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" [ORCID: orcid.org/0000-0003-4606-0597]
Show

Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

 MP:0020137 decreased bone mineralization "decrease in the rate at which minerals are deposited into bone" []
Show

Allelic Composition: Pcsk2tm1Dfs/Pcsk2tm1Dfs
Genetic Background: B6;129-Pcsk2tm1Dfs/J

  


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






 

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