ATP9B_HUMAN
ID ATP9B_HUMAN Reviewed; 1147 AA.
AC O43861; O60872; Q08AD8; Q08AD9;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 4.
DT 03-AUG-2022, entry version 186.
DE RecName: Full=Probable phospholipid-transporting ATPase IIB;
DE EC=7.6.2.1;
DE AltName: Full=ATPase class II type 9B;
GN Name=ATP9B; Synonyms=ATPIIB, NEO1L; ORFNames=HUSSY-20;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLY-39.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 41-472 (ISOFORMS 1/2).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 811-1147 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9548971; DOI=10.1101/gr.8.4.354;
RA Halleck M.S., Pradhan D., Blackman C.F., Berkes C., Williamson P.L.,
RA Schlegel R.A.;
RT "Multiple members of a third subfamily of P-type ATPases identified by
RT genomic sequences and ESTs.";
RL Genome Res. 8:354-361(1998).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 820-1147 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11124703;
RX DOI=10.1002/1097-0061(200101)18:1<69::aid-yea647>3.0.co;2-h;
RA Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N.,
RA Zimbello R., Lanfranchi G., Valle G.;
RT "Characterization of 16 novel human genes showing high similarity to yeast
RT sequences.";
RL Yeast 18:69-80(2001).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=21914794; DOI=10.1074/jbc.m111.281006;
RA Takatsu H., Baba K., Shima T., Umino H., Kato U., Umeda M., Nakayama K.,
RA Shin H.W.;
RT "ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes
RT to the trans-Golgi network in a CDC50 protein-independent manner.";
RL J. Biol. Chem. 286:38159-38167(2011).
CC -!- CATALYTIC ACTIVITY:
CC Reaction=ATP + H2O + phospholipidSide 1 = ADP + phosphate +
CC phospholipidSide 2.; EC=7.6.2.1;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane
CC {ECO:0000269|PubMed:21914794}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:21914794}. Note=Efficient exit from the endoplasmic
CC reticulum does not require TMEM30A, nor TMEM30B.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O43861-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O43861-2; Sequence=VSP_035790;
CC -!- SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3)
CC family. Type IV subfamily. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-53 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AC023090; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC099689; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104423; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC125437; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC125219; AAI25220.1; -; mRNA.
DR EMBL; BC125220; AAI25221.1; -; mRNA.
DR EMBL; AK097757; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; U78978; AAC05243.1; -; mRNA.
DR EMBL; AJ006268; CAA06934.1; -; mRNA.
DR CCDS; CCDS12014.1; -. [O43861-1]
DR CCDS; CCDS77202.1; -. [O43861-2]
DR RefSeq; NP_001293014.1; NM_001306085.1. [O43861-2]
DR RefSeq; NP_940933.3; NM_198531.4. [O43861-1]
DR AlphaFoldDB; O43861; -.
DR SMR; O43861; -.
DR BioGRID; 131925; 8.
DR STRING; 9606.ENSP00000398076; -.
DR iPTMnet; O43861; -.
DR PhosphoSitePlus; O43861; -.
DR SwissPalm; O43861; -.
DR BioMuta; ATP9B; -.
DR EPD; O43861; -.
DR jPOST; O43861; -.
DR MassIVE; O43861; -.
DR MaxQB; O43861; -.
DR PaxDb; O43861; -.
DR PeptideAtlas; O43861; -.
DR PRIDE; O43861; -.
DR ProteomicsDB; 49209; -. [O43861-1]
DR ProteomicsDB; 49210; -. [O43861-2]
DR Antibodypedia; 23438; 10 antibodies from 7 providers.
DR DNASU; 374868; -.
DR Ensembl; ENST00000307671.12; ENSP00000304500.7; ENSG00000166377.21. [O43861-2]
DR Ensembl; ENST00000426216.6; ENSP00000398076.2; ENSG00000166377.21. [O43861-1]
DR GeneID; 374868; -.
DR KEGG; hsa:374868; -.
DR MANE-Select; ENST00000426216.6; ENSP00000398076.2; NM_198531.5; NP_940933.3.
DR UCSC; uc002lmw.2; human. [O43861-1]
DR CTD; 374868; -.
DR DisGeNET; 374868; -.
DR GeneCards; ATP9B; -.
DR HGNC; HGNC:13541; ATP9B.
DR HPA; ENSG00000166377; Low tissue specificity.
DR MIM; 614446; gene.
DR neXtProt; NX_O43861; -.
DR OpenTargets; ENSG00000166377; -.
DR PharmGKB; PA25172; -.
DR VEuPathDB; HostDB:ENSG00000166377; -.
DR eggNOG; KOG0210; Eukaryota.
DR GeneTree; ENSGT00940000157071; -.
DR HOGENOM; CLU_000846_3_1_1; -.
DR InParanoid; O43861; -.
DR OMA; IAITTWH; -.
DR OrthoDB; 587717at2759; -.
DR PhylomeDB; O43861; -.
DR TreeFam; TF300590; -.
DR PathwayCommons; O43861; -.
DR Reactome; R-HSA-936837; Ion transport by P-type ATPases.
DR BioGRID-ORCS; 374868; 11 hits in 1078 CRISPR screens.
DR ChiTaRS; ATP9B; human.
DR GenomeRNAi; 374868; -.
DR Pharos; O43861; Tdark.
DR PRO; PR:O43861; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; O43861; protein.
DR Bgee; ENSG00000166377; Expressed in sural nerve and 167 other tissues.
DR ExpressionAtlas; O43861; baseline and differential.
DR Genevisible; O43861; HS.
DR GO; GO:0005768; C:endosome; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005802; C:trans-Golgi network; IDA:UniProtKB.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:InterPro.
DR GO; GO:0140326; F:ATPase-coupled intramembrane lipid transporter activity; IBA:GO_Central.
DR GO; GO:0000287; F:magnesium ion binding; IEA:InterPro.
DR GO; GO:0006897; P:endocytosis; IBA:GO_Central.
DR GO; GO:0045332; P:phospholipid translocation; IBA:GO_Central.
DR GO; GO:0006890; P:retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum; IBA:GO_Central.
DR Gene3D; 3.40.1110.10; -; 1.
DR Gene3D; 3.40.50.1000; -; 1.
DR InterPro; IPR030355; ATP9B.
DR InterPro; IPR023299; ATPase_P-typ_cyto_dom_N.
DR InterPro; IPR018303; ATPase_P-typ_P_site.
DR InterPro; IPR023298; ATPase_P-typ_TM_dom_sf.
DR InterPro; IPR008250; ATPase_P-typ_transduc_dom_A_sf.
DR InterPro; IPR036412; HAD-like_sf.
DR InterPro; IPR023214; HAD_sf.
DR InterPro; IPR006539; P-type_ATPase_IV.
DR InterPro; IPR032631; P-type_ATPase_N.
DR InterPro; IPR001757; P_typ_ATPase.
DR InterPro; IPR032630; P_typ_ATPase_c.
DR InterPro; IPR044492; P_typ_ATPase_HD_dom.
DR PANTHER; PTHR24092:SF50; PTHR24092:SF50; 1.
DR Pfam; PF16212; PhoLip_ATPase_C; 1.
DR Pfam; PF16209; PhoLip_ATPase_N; 1.
DR SFLD; SFLDF00027; p-type_atpase; 1.
DR SUPFAM; SSF56784; SSF56784; 1.
DR SUPFAM; SSF81653; SSF81653; 1.
DR SUPFAM; SSF81660; SSF81660; 1.
DR SUPFAM; SSF81665; SSF81665; 1.
DR TIGRFAMs; TIGR01652; ATPase-Plipid; 1.
DR TIGRFAMs; TIGR01494; ATPase_P-type; 3.
DR PROSITE; PS00154; ATPASE_E1_E2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Golgi apparatus; Magnesium; Membrane;
KW Metal-binding; Nucleotide-binding; Reference proteome; Translocase;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..1147
FT /note="Probable phospholipid-transporting ATPase IIB"
FT /id="PRO_0000046377"
FT TOPO_DOM 1..146
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 147..168
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 169..173
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 174..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 197..380
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 381..401
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 402..409
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 410..431
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 432..930
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 931..951
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 952..963
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 964..982
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 983..1012
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 1013..1031
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1032..1038
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1039..1061
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1062..1067
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 1068..1088
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1089..1105
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1106..1130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1131..1147
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 503..535
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 468
FT /note="4-aspartylphosphate intermediate"
FT /evidence="ECO:0000250"
FT BINDING 874
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000250"
FT BINDING 878
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1092..1102
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035790"
FT VARIANT 39
FT /note="S -> G (in dbSNP:rs4078115)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047557"
FT VARIANT 108
FT /note="R -> Q (in dbSNP:rs34938281)"
FT /id="VAR_061037"
FT VARIANT 504
FT /note="D -> N (in dbSNP:rs36034863)"
FT /id="VAR_047558"
FT VARIANT 732
FT /note="M -> L (in dbSNP:rs585033)"
FT /id="VAR_047559"
FT CONFLICT 886
FT /note="D -> N (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
FT CONFLICT 1006
FT /note="R -> K (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
FT CONFLICT 1020
FT /note="S -> I (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
FT CONFLICT 1036
FT /note="E -> D (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
FT CONFLICT 1073
FT /note="E -> D (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
FT CONFLICT 1095
FT /note="R -> K (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
FT CONFLICT 1103
FT /note="D -> N (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
FT CONFLICT 1131
FT /note="K -> N (in Ref. 4; AAC05243)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1147 AA; 129304 MW; 1C3787BF07EFD637 CRC64;
MADQIPLYPV RSAAAAAANR KRAAYYSAAG PRPGADRHSR YQLEDESAHL DEMPLMMSEE
GFENEESDYH TLPRARIMQR KRGLEWFVCD GWKFLCTSCC GWLINICRRK KELKARTVWL
GCPEKCEEKH PRNSIKNQKY NVFTFIPGVL YEQFKFFLNL YFLVISCSQF VPALKIGYLY
TYWAPLGFVL AVTMTREAID EFRRFQRDKE VNSQLYSKLT VRGKVQVKSS DIQVGDLIIV
EKNQRIPSDM VFLRTSEKAG SCFIRTDQLD GETDWKLKVA VSCTQQLPAL GDLFSISAYV
YAQKPQMDIH SFEGTFTRED SDPPIHESLS IENTLWASTI VASGTVIGVV IYTGKETRSV
MNTSNPKNKV GLLDLELNRL TKALFLALVA LSIVMVTLQG FVGPWYRNLF RFLLLFSYII
PISLRVNLDM GKAVYGWMMM KDENIPGTVV RTSTIPEELG RLVYLLTDKT GTLTQNEMIF
KRLHLGTVSY GADTMDEIQS HVRDSYSQMQ SQAGGNNTGS TPLRKAQSSA PKVRKSVSSR
IHEAVKAIVL CHNVTPVYES RAGVTEETEF AEADQDFSDE NRTYQASSPD EVALVQWTES
VGLTLVSRDL TSMQLKTPSG QVLSFCILQL FPFTSESKRM GVIVRDESTA EITFYMKGAD
VAMSPIVQYN DWLEEECGNM AREGLRTLVV AKKALTEEQY QDFESRYTQA KLSMHDRSLK
VAAVVESLER EMELLCLTGV EDQLQADVRP TLEMLRNAGI KIWMLTGDKL ETATCIAKSS
HLVSRTQDIH IFRQVTSRGE AHLELNAFRR KHDCALVISG DSLEVCLKYY EHEFVELACQ
CPAVVCCRCS PTQKARIVTL LQQHTGRRTC AIGDGGNDVS MIQAADCGIG IEGKEGKQAS
LAADFSITQF RHIGRLLMVH GRNSYKRSAA LGQFVMHRGL IISTMQAVFS SVFYFASVPL
YQGFLMVGYA TIYTMFPVFS LVLDQDVKPE MAMLYPELYK DLTKGRSLSF KTFLIWVLIS
IYQGGILMYG ALVLFESEFV HVVAISFTAL ILTELLMVAL TVRTWHWLMV VAEFLSLGCY
VSSLAFLNEY FGIGRVSFGA FLDVAFITTV TFLWKVSAIT VVSCLPLYVL KYLRRKLSPP
SYCKLAS
