LOCUS       NP_001390638            1511 aa            linear   ROD 26-NOV-2024
DEFINITION  copper-transporting ATPase 2 isoform 1 [Mus musculus].
ACCESSION   NP_001390638 XP_006509070
VERSION     NP_001390638.1
DBSOURCE    REFSEQ: accession NM_001403709.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 1511)
  AUTHORS   Mazi,T.A., Shibata,N.M., Sarode,G.V. and Medici,V.
  TITLE     Hepatic oxylipin profiles in mouse models of Wilson disease: New
            insights into early hepatic manifestations
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1869 (2), 159446 (2024)
   PUBMED   38072238
REFERENCE   2  (residues 1 to 1511)
  AUTHORS   Hao,W., Yang,W., Yang,Y., Cheng,T., Wei,T., Tang,L., Qian,N.,
            Yang,Y., Li,X., Jiang,H. and Wang,M.
  TITLE     Identification of lncRNA-miRNA-mRNA Networks in the Lenticular
            Nucleus Region of the Brain Contributes to Hepatolenticular
            Degeneration Pathogenesis and Therapy
  JOURNAL   Mol Neurobiol 61 (3), 1673-1686 (2024)
   PUBMED   37759104
REFERENCE   3  (residues 1 to 1511)
  AUTHORS   Padula,A., Spinelli,M., Nusco,E., Bujanda Cundin,X., Capolongo,F.,
            Campione,S., Perna,C., Bastille,A., Ericson,M., Wang,C.C.,
            Zhang,S., Amoresano,A., Nacht,M. and Piccolo,P.
  TITLE     Genome editing without nucleases confers proliferative advantage to
            edited hepatocytes and corrects Wilson disease
  JOURNAL   JCI Insight 8 (21), e171281 (2023)
   PUBMED   37707949
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1511)
  AUTHORS   Sarode,G.V., Mazi,T.A., Neier,K., Shibata,N.M., Jospin,G.,
            Harder,N.H.O., Caceres,A., Heffern,M.C., Sharma,A.K., More,S.K.,
            Dave,M., Schroeder,S.M., Wang,L., LaSalle,J.M., Lutsenko,S. and
            Medici,V.
  TITLE     The role of intestine in metabolic dysregulation in murine Wilson
            disease
  JOURNAL   Hepatol Commun 7 (10), e0247 (2023)
   PUBMED   37695076
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1511)
  AUTHORS   Washington-Hughes,C.L., Roy,S., Seneviratne,H.K.,
            Karuppagounder,S.S., Morel,Y., Jones,J.W., Zak,A., Xiao,T.,
            Boronina,T.N., Cole,R.N., Bumpus,N.N., Chang,C.J., Dawson,T.M. and
            Lutsenko,S.
  TITLE     Atp7b-dependent choroid plexus dysfunction causes transient copper
            deficit and metabolic changes in the developing mouse brain
  JOURNAL   PLoS Genet 19 (1), e1010558 (2023)
   PUBMED   36626371
  REMARK    GeneRIF: Atp7b-dependent choroid plexus dysfunction causes
            transient copper deficit and metabolic changes in the developing
            mouse brain.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1511)
  AUTHORS   Reed,V., Williamson,P., Bull,P.C., Cox,D.W. and Boyd,Y.
  TITLE     Mapping of the mouse homologue of the Wilson disease gene to mouse
            chromosome 8
  JOURNAL   Genomics 28 (3), 573-575 (1995)
   PUBMED   7490097
REFERENCE   7  (residues 1 to 1511)
  AUTHORS   Strader,C.D., Fong,T.M., Tota,M.R., Underwood,D. and Dixon,R.A.
  TITLE     Structure and function of G protein-coupled receptors
  JOURNAL   Annu Rev Biochem 63, 101-132 (1994)
   PUBMED   7979235
  REMARK    Review article
REFERENCE   8  (residues 1 to 1511)
  AUTHORS   Mercer,J.F., Grimes,A. and Rauch,H.
  TITLE     Hepatic metallothionein gene expression in toxic milk mice
  JOURNAL   J Nutr 122 (6), 1254-1259 (1992)
   PUBMED   1588441
REFERENCE   9  (residues 1 to 1511)
  AUTHORS   Biempica,L., Rauch,H., Quintana,N. and Sternlieb,I.
  TITLE     Morphologic and chemical studies on a murine mutation (toxic milk
            mice) resulting in hepatic copper toxicosis
  JOURNAL   Lab Invest 59 (4), 500-508 (1988)
   PUBMED   2845190
REFERENCE   10 (residues 1 to 1511)
  AUTHORS   Rauch,H.
  TITLE     Toxic milk, a new mutation affecting cooper metabolism in the mouse
  JOURNAL   J Hered 74 (3), 141-144 (1983)
   PUBMED   6863890
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC163439.3 and AL590619.9.
            
            On Apr 4, 2022 this sequence version replaced XP_006509070.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR9219380.56791.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1511
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 10.78 cM"
     Protein         1..1511
                     /product="copper-transporting ATPase 2 isoform 1"
                     /EC_number="7.2.2.8"
                     /note="copper-transporting ATPase 2; copper pump 2; wilson
                     disease-associated protein homolog; toxic milk; Wilson
                     protein; ATPase, Cu++ transporting, beta polypeptide"
                     /calculated_mol_wt=162439
     Region          120..183
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(126..128,131)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          205..268
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(211..213,216)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          320..377
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(325..327,330)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          411..477
                     /region_name="CopZ"
                     /note="Copper chaperone CopZ [Inorganic ion transport and
                     metabolism]; COG2608"
                     /db_xref="CDD:442020"
     Region          543..605
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(548..550,553)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          618..681
                     /region_name="HMA"
                     /note="Heavy-metal-associated domain (HMA) is a conserved
                     domain of approximately 30 amino acid residues found in a
                     number of proteins that transport or detoxify heavy
                     metals, for example, the CPx-type heavy metal ATPases and
                     copper chaperones. HMA domain...; cd00371"
                     /db_xref="CDD:238219"
     Site            order(624..626,629)
                     /site_type="metal-binding"
                     /note="metal-binding site [ion binding]"
                     /db_xref="CDD:238219"
     Region          703..1400
                     /region_name="P-type_ATPase_Cu-like"
                     /note="P-type heavy metal-transporting ATPase, similar to
                     human copper-transporting ATPases, ATP7A and ATP7B;
                     cd02094"
                     /db_xref="CDD:319783"
     Site            order(1034,1036,1377)
                     /site_type="other"
                     /note="putative Cu binding site [ion binding]"
                     /db_xref="CDD:319783"
     Site            order(1078..1080,1148,1194..1196,1226,1266..1268,1288,
                     1291,1294,1313,1316)
                     /site_type="other"
                     /note="putative ATP binding site [chemical binding]"
                     /db_xref="CDD:319783"
     CDS             1..1511
                     /gene="Atp7b"
                     /gene_synonym="Atp7a; tx; WND"
                     /coded_by="NM_001403709.1:190..4725"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="GeneID:11979"
                     /db_xref="MGI:MGI:103297"
ORIGIN      
        1 mekaqgkmhq nlehsflasl sspqvtllsv qkrctfrrss glgswarsas seekgppqpe
       61 eelspgvlar tlerrsqils klalpgrpwe qsmkqsfafd nvgyegglds tssspaatdv
      121 vnilgmtchs cvksiedris slkgivnikv sleqgsatvr yvpsvmnlqq iclqiedmgf
      181 easaaegkaa swpsrsspaq eavvklrveg mtcqscvssi egkirklqgv vrikvslsnq
      241 eavityqpyl iqpedlrdhi cdmgfeaaik nrtaplrlgp idvnklestn lkketvspvq
      301 isnhfetlgh qgsylatlpl ridgmhcksc vlniegnigq lpgvqnihvs lenktaqiqy
      361 dpscvtpmfl qtaiealppg hfkvslpdgv eenepqsgss qrhqeqgpgr tavltisgit
      421 cassvqpied mlsqrkgvqq tsislaegtg avlydpsivs ldelrtaved mgfevsvnse
      481 tftinpvrnf ksgnsvpqtm gdiagsvqkm apdtrglpth qgpghssetp sspgatasqk
      541 cfvqikgmtc ascvsniers lqrhagilsv lvalmsgkae vkydpeiiqs priaqliqdl
      601 gfeasvmedn tvsegdieli itgmtcascv hnieskltrt ngityasval atskahvkfd
      661 peivgprdii kiieeigfha slaqrnpnah hldhkteikq wkksflcslv fgipvmglmv
      721 ymlipsstpq etmvldhnii pglsvlnlif filctfvqfl ggwyfyvqay kslrhrsanm
      781 dvlivlatti ayayslvilv vavaekaeks pvtffdtppm lfvfialgrw lehvakskts
      841 ealaklmslq ateatvvtlg ednlilreeq vpmelvqrgd vikvvpggkf pvdgkvlegn
      901 tmadeslitg eampvtkkpg siviagsina hgsvllkath vgndttlaqi vklveeaqms
      961 kapiqqladr fsgyfvpfii iistltlvvw ivigfvdfgv vqkyfpspsk hisqteviir
     1021 fafqtsitvl ciacpcslgl atptavmvgt gvaaqngvli kggkplemah kiktvmfdkt
     1081 gtithgvprv mrfllladva tlplrkvlav vgtaeasseh plgvavtkyc keelgtetlg
     1141 ystdfqavpg cgisckvsnv egilarsdlt ahpvgvgnpp tgegagpqtf svlignrewm
     1201 rrngltissd isdamtdhem kgqtailvai dgvlcgmiai adavkpeaal aiytlksmgv
     1261 dvalitgdnr ktaraiatqv ginkvfaevl pshkvakvqe lqnegkkvam vgdgvndspa
     1321 laqadvgiai gtgtdvaiea advvlirndl ldvvasihls krtvrrirvn lvlaliynmv
     1381 gipiaagvfm pigivlqpwm gsaamaassv svvlsslqlk cyrkpdlery eaqahgrmkp
     1441 lsasqvsvhi gmddrrrdsp ratawdqvsy vsqvslsslt sdrlsrhgga aedggdkwsl
     1501 llsdrdeeqc i
//
