ENSMUSG00000039529


Mus musculus

Features
Gene ID: ENSMUSG00000039529
  
Biological name :Atp8b1
  
Synonyms : Atp8b1 / Phospholipid-transporting ATPase IC / Q148W0
  
Possible biological names infered from orthology : ATPase phospholipid transporting 8B1 / O43520
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: E1
Gene start: 64528979
Gene end: 64661000
  
Corresponding Affymetrix probe sets: 10459421 (MoGene1.0st)   1455396_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025482
NCBI entrez gene - 54670     See in Manteia.
MGI - MGI:1859665
RefSeq - NM_001001488
RefSeq - XM_006526105
RefSeq Peptide - NP_001001488
swissprot - Q148W0
Ensembl - ENSMUSG00000039529
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ATP8B1ENSGALG00000030834Gallus gallus
 ATP8B1ENSG00000081923Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Atp8b2 / P98199 / Phospholipid-transporting ATPase ID / P98198* / ATPase phospholipid transporting 8B2*ENSMUSG0000006067151
Atp8b4 / ATPase, class I, type 8B, member 4 / Q8TF62* / ATPase phospholipid transporting 8B4 (putative)*ENSMUSG0000006013149
A3FIN4 / Atp8b5 / Phospholipid-transporting ATPase FetA ENSMUSG0000002845748
Atp8a1 / P70704 / Phospholipid-transporting ATPase IA / Q9Y2Q0* / ATPase phospholipid transporting 8A1*ENSMUSG0000003768538
Atp8a2 / P98200 / Phospholipid-transporting ATPase IB / Q9NTI2* / ATPase phospholipid transporting 8A2*ENSMUSG0000002198336
Atp10a / O54827 / Probable phospholipid-transporting ATPase VA / O60312* / ATPase phospholipid transporting 10A (putative)*ENSMUSG0000002532434
Atp11a / P98197 / Probable phospholipid-transporting ATPase IH / P98196* / ATPase phospholipid transporting 11A*ENSMUSG0000003144130
Atp11b / ATPase, class VI, type 11B / Q9Y2G3* / ATPase phospholipid transporting 11B (putative)*ENSMUSG0000003740030
Atp11c / Q9QZW0 / Phospholipid-transporting ATPase 11C / Q8NB49* / ATPase phospholipid transporting 11C*ENSMUSG0000006294929


Protein motifs (from Interpro)
Interpro ID Name
 IPR001757  P-type ATPase
 IPR006539  P-type ATPase, subfamily IV
 IPR008250  P-type ATPase, A domain superfamily
 IPR018303  P-type ATPase, phosphorylation site
 IPR023214  HAD superfamily
 IPR023298  P-type ATPase, transmembrane domain superfamily
 IPR023299  P-type ATPase, cytoplasmic domain N
 IPR030346  Phospholipid-transporting ATPase IC
 IPR032630  P-type ATPase, C-terminal
 IPR032631  P-type ATPase, N-terminal
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006855 drug transmembrane transport IEA
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007030 Golgi organization IBA
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0008206 bile acid metabolic process IMP
 biological_processGO:0015914 phospholipid transport IEA
 biological_processGO:0015917 aminophospholipid transport IDA
 biological_processGO:0021650 vestibulocochlear nerve formation IMP
 biological_processGO:0032534 regulation of microvillus assembly IEA
 biological_processGO:0045332 phospholipid translocation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0060119 inner ear receptor cell development IMP
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005794 Golgi apparatus IBA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IEA
 molecular_functionGO:0004012 phospholipid-translocating ATPase activity IDA
 molecular_functionGO:0005319 lipid transporter activity IMP
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015247 aminophospholipid transmembrane transporter activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:1901612 cardiolipin binding IDA


Pathways (from Reactome)
Pathway description
Ion transport by P-type ATPases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000031 abnormal cochlea morphology "any anomaly, deformity, malformation, impairment or dysfunction of the cochlea" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:21484]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
Show

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0000610 cholestasis "impairment of bile flow due to obstruction in small bile ducts (intrahepatic cholestasis) or obstruction in large bile ducts (extrahepatic cholestasis)" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Pdgfrbb2b2903Clo/Pdgfrbb2b2903Clo
Genetic Background: C57BL/6J-Pdgfrbb2b2903Clo

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

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0002855 abnormal cochlear ganglion morphology "malformation, malfunction or absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0002941 increased circulating alanine transaminase level "increased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 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]
Show

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0003255 bile duct proliferation "the appearance of an increased number of bile ducts in the liver; a sign of progressive liver disease" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004465 degeneration of supporting cells "degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

 MP:0004772 abnormal bile secretion "any anomaly in the quantity or rate of bile secreted through the bile ducts in a given length of time" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0004774 abnormal bile salt level "anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary sytem as bile salts; these play an important role in the digestion and absorption of fats" [MESH:D04.808.105, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0004789 increased bile salt level "increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary sytem as bile salts; these play an important role in the digestion and absorption of fats" [MESH:D04.808.105, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0005343 increased circulating aspartate transaminase level "greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0005344 increased circulating bilirubin level "greater than the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0005365 abnormal bile salt homeostasis "anomalous regulation of the steroid salts derived from cholesterol in the liver and which play an important role in the digestion and absorption of fats" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:86154]
Show

Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0009763 increased sensitivity to induced morbidity/mortality "decrease in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp8b1tm1Nbf/Atp8b1tm1Nbf,Portm1Wolf/Portm1Wolf,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * DBA

 MP:0010180 increased susceptibility to weight loss "greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdpk1tm2Ejm/Pdpk1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 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: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Nf2tm2Gth/Nf2tm2Gth
Genetic Background: involves: 129P2/OlaHsd * FVB/N

  


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






 

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