ENSMUSG00000006567


Mus musculus

Features
Gene ID: ENSMUSG00000006567
  
Biological name :Atp7b
  
Synonyms : Atp7b / Copper-transporting ATPase 2 / Q64446
  
Possible biological names infered from orthology : ATPase copper transporting beta / P35670
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: A2
Gene start: 21992785
Gene end: 22060305
  
Corresponding Affymetrix probe sets: 10577449 (MoGene1.0st)   1421563_at (Mouse Genome 430 2.0 Array)   1436481_at (Mouse Genome 430 2.0 Array)   1450283_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000006742
Ensembl peptide - ENSMUSP00000106366
NCBI entrez gene - 11979     See in Manteia.
MGI - MGI:103297
RefSeq - XM_017312538
RefSeq - NM_007511
RefSeq - XM_006509007
RefSeq Peptide - NP_031537
swissprot - Q64446
swissprot - B1AQ57
Ensembl - ENSMUSG00000006567
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atp7bENSDARG00000058145Danio rerio
 ATP7BENSGALG00000017021Gallus gallus
 ATP7BENSG00000123191Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Atp7a / Q64430 / Copper-transporting ATPase 1 / Q04656* / ATPase copper transporting alpha*ENSMUSG0000003379255


Protein motifs (from Interpro)
Interpro ID Name
 IPR001757  P-type ATPase
 IPR006121  Heavy metal-associated domain, HMA
 IPR006122  Heavy metal-associated domain, copper ion-binding
 IPR008250  P-type ATPase, A domain superfamily
 IPR017969  Heavy-metal-associated, conserved site
 IPR018303  P-type ATPase, phosphorylation site
 IPR023214  HAD superfamily
 IPR023298  P-type ATPase, transmembrane domain superfamily
 IPR023299  P-type ATPase, cytoplasmic domain N
 IPR027256  P-type ATPase, subfamily IB
 IPR036163  Heavy metal-associated domain superfamily
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0006825 copper ion transport ISO
 biological_processGO:0006878 cellular copper ion homeostasis IMP
 biological_processGO:0006882 cellular zinc ion homeostasis IMP
 biological_processGO:0007595 lactation IMP
 biological_processGO:0015677 copper ion import IEA
 biological_processGO:0015680 intracellular copper ion transport IMP
 biological_processGO:0030001 metal ion transport IEA
 biological_processGO:0035434 copper ion transmembrane transport IEA
 biological_processGO:0046688 response to copper ion IEA
 biological_processGO:0051208 sequestering of calcium ion IEA
 biological_processGO:0060003 copper ion export IEA
 biological_processGO:0099132 ATP hydrolysis coupled cation transmembrane transport IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome ISS
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0032588 trans-Golgi network membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004008 copper-exporting ATPase activity IDA
 molecular_functionGO:0005375 copper ion transmembrane transporter activity IEA
 molecular_functionGO:0005507 copper ion binding IEA
 molecular_functionGO:0005524 ATP binding ISS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019829 cation-transporting ATPase activity IEA
 molecular_functionGO:0043682 copper-transporting ATPase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000192 abnormal mineral level "anomalous concentration of any inorganic substance that has importance in body functions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: C3H/HeJ * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0000794 abnormal parietal lobe morphology "malformation or absence of the upper central part of the cerebral hemisphere" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0000798 abnormal frontal lobe morphology "malformation or absence of the anterior part of the cerebral hemisphere" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0000804 abnormal occipital lobe morphology "malformation or absence of the posterior part of the cerebral hemisphere" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: C3H/HeJ * C57BL/6

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0001274 curly vibrissae "whiskers twisted into coils or spirals" [J:47620]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0001569 abnormal circulating bilirubin level "aberrant concentration in the blood of this yellow heme breakdown product " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Adgre1M4Btlr/Adgre1+
Genetic Background: C57BL/6J-Adgre1M4Btlr

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

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0001881 abnormal mammary gland physiology "aberrant function of of the milk-secreting gland that lies within the breast" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: C3H/HeJ * C57BL/6

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0003046 liver cirrhosis "liver disease in which the occurrence of fibrotic nodules cause diffuse damage to parenchymal cells, disruptions in microcirculation, vascular anatomy and hepatic architecture, resulting in hepatic dysfunction and ultimately, hepatic failure" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0003065 abnormal hepatic copper content "anomalous level of copper present in the liver tissue" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0003066 increased hepatic copper content "a greater accumulation of copper in the liver tissue compared to controls" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0003067 decreased hepatic copper content "a reduced amount of copper in the liver tissue compared to controls" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0003329 amyloid beta deposits 
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0003718 maternal effect "expression of a phenotypic trait in an female animal s offspring that is dependent on the maternal genotype" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0003952 abnormal copper level "anomaly in the concentration in the body with respect to this metallic element that normally occurs in a number of proteins including amine oxidases and chaperone proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Atp7btx-J/Atp7btx-J,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: C3H/HeJ * C57BL/6

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0005011 increased eosinophil count "greater than normal eosinophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0006349 decreased circulating copper level "less than the normal concentration of copper in the blood" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", Riken ENU:Hiroshi Masuya]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: involves: C57BL/6 * DL

 MP:0006350 increased circulating copper level "greater than normal concentration of copper in the blood" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", Riken ENU:Hiroshi Masuya]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0008540 abnormal cerebrum morphology "any structural anomaly of the largest part of the brain, derived from the telencephalon, and is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities" [MESH:A08.186.211.730.885.287]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0010243 increased kidney copper level "a greater accumulation of copper in the kidney tissue compared to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Runx1tm3Spe/Runx1tm3Spe
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

 MP:0011214 increased brain copper level "a greater accumulation of copper in the brain tissue compared to controls" [MGI:llw2]
Show

Allelic Composition: Atp7btx-J/Atp7btx-J
Genetic Background: C3H/HeJ-Atp7btx-J/J

Allelic Composition: Atp7btx/Atp7btx
Genetic Background: DL-Atp7btx

  


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






 

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