Reviewed, UniProtKB/Swiss-Prot Q64446 (ATP7B_MOUSE)

Names and origin

Protein names

Recommended name:
    Copper-transporting ATPase 2
    EC=3.6.3.4
Alternative name(s):
    Copper pump 2
    Wilson disease-associated protein homolog

Gene names

Name:	Atp7b
Synonyms:	Wnd

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	1462 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile By similarity.
Catalytic activity	ATP + H2O + Cu2+(In) = ADP + phosphate + Cu2+(Out).
Subunit structure	Monomer. Interacts with COMMD1/MURR1 By similarity.
Subcellular location	Golgi apparatus › trans-Golgi network membrane; Multi-pass membrane protein By similarity. Note: Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels By similarity.
Tissue specificity	Detected in liver and kidney.
Involvement in disease	Defects in Atp7b are the cause of the toxic milk mouse mutant (tx) phenotype, characterized by accumulation of copper in the liver in a manner similar to that observed in patients with Wilson disease.
Sequence similarities	Belongs to the cation transport ATPase (P-type) family. Type IB subfamily. Contains 6 HMA domains.

Ontologies

Keywords
Biological process	Copper transport Ion transport Transport
Cellular component	Golgi apparatus Membrane
Disease	Disease mutation
Domain	Repeat Transmembrane
Ligand	ATP-binding Copper Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	ATP biosynthetic process Inferred from electronic annotation. Source: InterPro cellular copper ion homeostasis Inferred from mutant phenotype. Source: MGI cellular zinc ion homeostasis Inferred from mutant phenotype. Source: MGI intracellular copper ion transport Inferred from mutant phenotype. Source: MGI lactation Inferred from mutant phenotype. Source: MGI
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell late endosome Inferred from sequence or structural similarity. Source: UniProtKB membrane fraction Inferred from direct assay. Source: MGI trans-Golgi network Inferred from direct assay. Source: MGI
Molecular function	ATP binding Inferred from sequence or structural similarity. Source: HGNC copper ion binding Inferred from sequence or structural similarity. Source: HGNC copper-exporting ATPase activity Inferred from direct assay. Source: MGI magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1462	1462	Copper-transporting ATPase 2		PRO_0000046315
Regions
	Topological domain	1 – 655	655	Cytoplasmic Potential
	Transmembrane	656 – 677	22	Potential
	Topological domain	678 – 699	22	Extracellular Potential
	Transmembrane	700 – 719	20	Potential
	Topological domain	720 – 726	7	Cytoplasmic Potential
	Transmembrane	727 – 747	21	Potential
	Topological domain	748 – 766	19	Extracellular Potential
	Transmembrane	767 – 787	21	Potential
	Topological domain	788 – 921	134	Cytoplasmic Potential
	Transmembrane	922 – 944	23	Potential
	Topological domain	945 – 974	30	Extracellular Potential
	Transmembrane	975 – 996	22	Potential
	Topological domain	997 – 1319	323	Cytoplasmic Potential
	Transmembrane	1320 – 1337	18	Potential
	Topological domain	1338 – 1348	11	Extracellular Potential
	Transmembrane	1349 – 1368	20	Potential
	Topological domain	1369 – 1462	94	Cytoplasmic Potential
	Domain	69 – 135	67	HMA 1
	Domain	154 – 220	67	HMA 2
	Domain	268 – 334	67	HMA 3
	Domain	362 – 428	67	HMA 4
	Domain	491 – 557	67	HMA 5
	Domain	567 – 633	67	HMA 6
Sites
	Active site	1029	1	4-aspartylphosphate intermediate By similarity
	Metal binding	1264	1	Magnesium By similarity
	Metal binding	1268	1	Magnesium By similarity
Natural variations
	Natural variant	1356	1	M → V in tx mice.

Sequences

	Sequence		Length	Mass (Da)
	Q64446-1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 67F5C659CE9A54CD	FASTA	1,462	157,298
	10 20 30 40 50 60 MDPRKNLASV GTMPEQERQV TAKEASRKIL SKLALPGRPW EQSMKQSFAF DNVGYEGGLD 70 80 90 100 110 120 STSSSPAATD VVNILGMTCH SCVKSIEDRI SSLKGIVNIK VSLEQGKHTV RYVPSVMNLQ 130 140 150 160 170 180 QICLQIEDMG FEASAAEGKA ASWPSRSSPA QEAVVKLRVE GMTCQSCVSS IEGKIRKLQG 190 200 210 220 230 240 VVRIKVSLSN QEAVITYQPY LIQPEDLRDH ICDMGFEAAI KNRTAPLRLG PIDVNKLEST 250 260 270 280 290 300 NLKKETVSPV QISNHFETLG HQGSYLATLP LRIDGMHCKS CVLNIEGNIG QLPGVQNIHV 310 320 330 340 350 360 SLENKTAQIQ YDPSCVTPMF LQTAIEALPP GHFKVSLPDG VEENEPQSGS SQRHQEQGPG 370 380 390 400 410 420 RTAVLTISGI TCASSVQPIE DMLSQRKGVQ QTSISLAEGT GAVLYDPSIV SLDELRTAVE 430 440 450 460 470 480 DMGFEVSVNS ETFTINPVRN FKSGNSVPQT MGDIAGSVQK MAPDTRGLPT HQGPGHSSET 490 500 510 520 530 540 PSSPGATASQ KCFVQIKGMT CASCVSNIER SLQRHAGILS VLVALMSGKA EVKYDPEIIQ 550 560 570 580 590 600 SPRIAQLIQD LGFEASVMED NTVSEGDIEL IITGMTCASC VHNIESKLTR TNGITYASVA 610 620 630 640 650 660 LATSKAHVKF DPEIVGPRDI IKIIEEIGFH ASLAQRNPNA HHLDHKTEIK QWKKSFLCSL 670 680 690 700 710 720 VFGIPVMGLM VYMLIPSSTP QETMVLDHNI IPGLSVLNLI FFILCTFVQF LGGWYFYVQA 730 740 750 760 770 780 YKSLRHRSAN MDVLIVLATT IAYAYSLVIL VVAVAEKAEK SPVTFFDTPP MLFVFIALGR 790 800 810 820 830 840 WLEHVAKSKT SEALAKLMSL QATEATVVTL GEDNLILREE QVPMELVQRG DVIKVVPGGK 850 860 870 880 890 900 FPVDGKVLEG NTMADESLIT GEAMPVTKKP GSIVIAGSIN AHGSVLLKAT HVGNDTTLAQ 910 920 930 940 950 960 IVKLVEEAQM SKAPIQQLAD RFSGYFVPFI IIISTLTLVV WIVIGFVDFG VVQKYFPSPS 970 980 990 1000 1010 1020 KHISQTEVII RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGVL IKGGKPLEMA 1030 1040 1050 1060 1070 1080 HKIKTVMFDK TGTITHGVPR VMRFLLLADV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY 1090 1100 1110 1120 1130 1140 CKEELGTETL GYSTDFQAVP GCGISCKVSN VEGILARSDL TAHPVGVGNP PTGEGAGPQT 1150 1160 1170 1180 1190 1200 FSVLIGNREW MRRNGLTISS DISDAMTDHE MKGQTAILVA IDGVLCGMIA IADAVKPEAA 1210 1220 1230 1240 1250 1260 LAIYTLKSMG VDVALITGDN RKTARAIATQ VGINKVFAEV LPSHKVAKVQ ELQNEGKKVA 1270 1280 1290 1300 1310 1320 MVGDGVNDSP ALAQADVGIA IGTGTDVAIE AADVVLIRND LLDVVASIHL SKRTVRRIRV 1330 1340 1350 1360 1370 1380 NLVLALIYNM VGIPIAAGVF MPIGIVLQPW MGSAAMAASS VSVVLSSLQL KCYRKPDLER 1390 1400 1410 1420 1430 1440 YEAQAHGRMK PLSASQVSVH IGMDDRRRDS PRATAWDQVS YVSQVSLSSL TSDRLSRHGG 1450 1460 AAEDGGDKWS LLLSDRDEEQ CI

References

[1]	"The toxic milk mouse is a murine model of Wilson disease." Theophilos M.B., Cox D.W., Mercer J.F.B. Hum. Mol. Genet. 5:1619-1624(1996) [PubMed: 8894697] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: DAT. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U38477 mRNA. Translation: AAC52852.1.
IPI	IPI00134479.
UniGene	Mm.87854
3D structure databases
HSSP	HSSP built from PDB template 1AW0 based on UniProtKB Q04656.
SMR	Q64446. Positions 488-635, 1036-1193.
ModBase	Search...
Protein-protein interaction databases
STRING	Q64446.
Proteomic databases
PRIDE	Q64446.
Genome annotation databases
Ensembl	ENSMUST00000006742; ENSMUSP00000006742; ENSMUSG00000006567; Mus musculus. [Genome view]
UCSC	uc009lck.1. mouse.
Organism-specific databases
MGI	MGI:103297. Atp7b.
Phylogenomic databases
HOGENOM	Q64446.
HOVERGEN	Q64446.
Gene expression databases
ArrayExpress	Q64446.
Bgee	Q64446.
CleanEx	MM_ATP7B.
Genevestigator	Q64446.
GermOnline	ENSMUSG00000006567. Mus musculus.
Family and domain databases
InterPro	IPR001877. ATPase1_Cu-transp. IPR008250. ATPase_P-typ_ATPase-assoc-reg. IPR006403. ATPase_P-typ_cat/Cu-transptr. IPR006416. ATPase_P-typ_heavy-metal. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR006122. Cu_ion_bd. IPR005834. Dehalogen-like_hydro. IPR017969. Heavy-metal-associated_CS. IPR006121. HeavyMe_transpt. [Graphical view]
PANTHER	PTHR11939. ATPase_P. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 1 hit. PF00403. HMA. 6 hits. PF00702. Hydrolase. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE. PR00942. CUATPASEI.
TIGRFAMs	TIGR01511. ATPase-IB1_Cu. 1 hit. TIGR01525. ATPase-IB_hvy. 1 hit. TIGR01494. ATPase_P-type. 2 hits. TIGR00003. Cu_ion_bd. 2 hits.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. PS01047. HMA_1. 5 hits. PS50846. HMA_2. 6 hits. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

ATP7B_MOUSE

Accession

Primary (citable) accession number: Q64446

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 8, 2000
Last sequence update:	November 1, 1996
Last modified:	October 13, 2009
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)