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O43861

- ATP9B_HUMAN

UniProt

O43861 - ATP9B_HUMAN

Protein

Probable phospholipid-transporting ATPase IIB

Gene

ATP9B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 4 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    ATP + H2O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei468 – 46814-aspartylphosphate intermediateBy similarity
    Metal bindingi874 – 8741MagnesiumBy similarity
    Metal bindingi878 – 8781MagnesiumBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. cation-transporting ATPase activity Source: InterPro
    3. magnesium ion binding Source: InterPro
    4. phospholipid-translocating ATPase activity Source: UniProtKB-EC

    GO - Biological processi

    1. establishment of protein localization to Golgi Source: UniProtKB
    2. phospholipid translocation Source: UniProtKB

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_25149. Ion transport by P-type ATPases.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable phospholipid-transporting ATPase IIB (EC:3.6.3.1)
    Alternative name(s):
    ATPase class II type 9B
    Gene namesi
    Name:ATP9B
    Synonyms:ATPIIB, NEO1L
    ORF Names:HUSSY-20
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:13541. ATP9B.

    Subcellular locationi

    Golgi apparatustrans-Golgi network membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Efficient exit from the endoplasmic reticulum does not require TMEM30A, nor TMEM30B.

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. perinuclear region of cytoplasm Source: UniProtKB
    3. trans-Golgi network Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25172.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11471147Probable phospholipid-transporting ATPase IIBPRO_0000046377Add
    BLAST

    Proteomic databases

    MaxQBiO43861.
    PaxDbiO43861.
    PRIDEiO43861.

    PTM databases

    PhosphoSiteiO43861.

    Expressioni

    Gene expression databases

    ArrayExpressiO43861.
    BgeeiO43861.
    CleanExiHS_ATP9B.
    GenevestigatoriO43861.

    Organism-specific databases

    HPAiHPA029364.

    Interactioni

    Protein-protein interaction databases

    BioGridi131925. 1 interaction.
    STRINGi9606.ENSP00000304500.

    Structurei

    3D structure databases

    ProteinModelPortaliO43861.
    SMRiO43861. Positions 707-985.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 146146CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini169 – 1735ExtracellularSequence Analysis
    Topological domaini197 – 380184CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini402 – 4098ExtracellularSequence Analysis
    Topological domaini432 – 930499CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini952 – 96312ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini983 – 101230CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1032 – 10387ExtracellularSequence Analysis
    Topological domaini1062 – 10676CytoplasmicSequence Analysis
    Topological domaini1089 – 110517ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1131 – 114717CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei147 – 16822HelicalSequence AnalysisAdd
    BLAST
    Transmembranei174 – 19623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei381 – 40121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei410 – 43122HelicalSequence AnalysisAdd
    BLAST
    Transmembranei931 – 95121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei964 – 98219HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1013 – 103119HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1039 – 106123HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1068 – 108821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1106 – 113025HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0474.
    HOGENOMiHOG000201571.
    HOVERGENiHBG050617.
    InParanoidiO43861.
    KOiK01530.
    OMAiSYANEAM.
    PhylomeDBiO43861.
    TreeFamiTF300590.

    Family and domain databases

    Gene3Di2.70.150.10. 2 hits.
    3.40.1110.10. 2 hits.
    3.40.50.1000. 2 hits.
    InterProiIPR023299. ATPase_P-typ_cyto_domN.
    IPR018303. ATPase_P-typ_P_site.
    IPR006539. ATPase_P-typ_Plipid-transp.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view]
    PANTHERiPTHR24092. PTHR24092. 1 hit.
    PfamiPF00122. E1-E2_ATPase. 1 hit.
    PF00702. Hydrolase. 1 hit.
    [Graphical view]
    PRINTSiPR00119. CATATPASE.
    SUPFAMiSSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsiTIGR01652. ATPase-Plipid. 1 hit.
    TIGR01494. ATPase_P-type. 3 hits.
    PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43861-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MADQIPLYPV RSAAAAAANR KRAAYYSAAG PRPGADRHSR YQLEDESAHL     50
    DEMPLMMSEE GFENEESDYH TLPRARIMQR KRGLEWFVCD GWKFLCTSCC 100
    GWLINICRRK KELKARTVWL GCPEKCEEKH PRNSIKNQKY NVFTFIPGVL 150
    YEQFKFFLNL YFLVISCSQF VPALKIGYLY TYWAPLGFVL AVTMTREAID 200
    EFRRFQRDKE VNSQLYSKLT VRGKVQVKSS DIQVGDLIIV EKNQRIPSDM 250
    VFLRTSEKAG SCFIRTDQLD GETDWKLKVA VSCTQQLPAL GDLFSISAYV 300
    YAQKPQMDIH SFEGTFTRED SDPPIHESLS IENTLWASTI VASGTVIGVV 350
    IYTGKETRSV MNTSNPKNKV GLLDLELNRL TKALFLALVA LSIVMVTLQG 400
    FVGPWYRNLF RFLLLFSYII PISLRVNLDM GKAVYGWMMM KDENIPGTVV 450
    RTSTIPEELG RLVYLLTDKT GTLTQNEMIF KRLHLGTVSY GADTMDEIQS 500
    HVRDSYSQMQ SQAGGNNTGS TPLRKAQSSA PKVRKSVSSR IHEAVKAIVL 550
    CHNVTPVYES RAGVTEETEF AEADQDFSDE NRTYQASSPD EVALVQWTES 600
    VGLTLVSRDL TSMQLKTPSG QVLSFCILQL FPFTSESKRM GVIVRDESTA 650
    EITFYMKGAD VAMSPIVQYN DWLEEECGNM AREGLRTLVV AKKALTEEQY 700
    QDFESRYTQA KLSMHDRSLK VAAVVESLER EMELLCLTGV EDQLQADVRP 750
    TLEMLRNAGI KIWMLTGDKL ETATCIAKSS HLVSRTQDIH IFRQVTSRGE 800
    AHLELNAFRR KHDCALVISG DSLEVCLKYY EHEFVELACQ CPAVVCCRCS 850
    PTQKARIVTL LQQHTGRRTC AIGDGGNDVS MIQAADCGIG IEGKEGKQAS 900
    LAADFSITQF RHIGRLLMVH GRNSYKRSAA LGQFVMHRGL IISTMQAVFS 950
    SVFYFASVPL YQGFLMVGYA TIYTMFPVFS LVLDQDVKPE MAMLYPELYK 1000
    DLTKGRSLSF KTFLIWVLIS IYQGGILMYG ALVLFESEFV HVVAISFTAL 1050
    ILTELLMVAL TVRTWHWLMV VAEFLSLGCY VSSLAFLNEY FGIGRVSFGA 1100
    FLDVAFITTV TFLWKVSAIT VVSCLPLYVL KYLRRKLSPP SYCKLAS 1147
    Length:1,147
    Mass (Da):129,304
    Last modified:November 25, 2008 - v4
    Checksum:i1C3787BF07EFD637
    GO
    Isoform 2 (identifier: O43861-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1092-1102: Missing.

    Show »
    Length:1,136
    Mass (Da):128,198
    Checksum:iEE75E3FF2C930873
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti886 – 8861D → N in AAC05243. (PubMed:9548971)Curated
    Sequence conflicti1006 – 10061R → K in AAC05243. (PubMed:9548971)Curated
    Sequence conflicti1020 – 10201S → I in AAC05243. (PubMed:9548971)Curated
    Sequence conflicti1036 – 10361E → D in AAC05243. (PubMed:9548971)Curated
    Sequence conflicti1073 – 10731E → D in AAC05243. (PubMed:9548971)Curated
    Sequence conflicti1095 – 10951R → K in AAC05243. (PubMed:9548971)Curated
    Sequence conflicti1103 – 11031D → N in AAC05243. (PubMed:9548971)Curated
    Sequence conflicti1131 – 11311K → N in AAC05243. (PubMed:9548971)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391S → G.1 Publication
    Corresponds to variant rs4078115 [ dbSNP | Ensembl ].
    VAR_047557
    Natural varianti108 – 1081R → Q.
    Corresponds to variant rs34938281 [ dbSNP | Ensembl ].
    VAR_061037
    Natural varianti504 – 5041D → N.
    Corresponds to variant rs36034863 [ dbSNP | Ensembl ].
    VAR_047558
    Natural varianti732 – 7321M → L.
    Corresponds to variant rs585033 [ dbSNP | Ensembl ].
    VAR_047559

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1092 – 110211Missing in isoform 2. 1 PublicationVSP_035790Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC023090 Genomic DNA. No translation available.
    AC099689 Genomic DNA. No translation available.
    AC104423 Genomic DNA. No translation available.
    AC125437 Genomic DNA. No translation available.
    BC125219 mRNA. Translation: AAI25220.1.
    BC125220 mRNA. Translation: AAI25221.1.
    AK097757 mRNA. No translation available.
    U78978 mRNA. Translation: AAC05243.1.
    AJ006268 mRNA. Translation: CAA06934.1.
    CCDSiCCDS12014.1. [O43861-1]
    RefSeqiNP_940933.3. NM_198531.3. [O43861-1]
    XP_005266748.1. XM_005266691.1. [O43861-2]
    UniGeneiHs.465475.

    Genome annotation databases

    EnsembliENST00000307671; ENSP00000304500; ENSG00000166377. [O43861-2]
    ENST00000426216; ENSP00000398076; ENSG00000166377. [O43861-1]
    GeneIDi374868.
    KEGGihsa:374868.
    UCSCiuc002lmw.1. human. [O43861-2]
    uc002lmx.3. human. [O43861-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC023090 Genomic DNA. No translation available.
    AC099689 Genomic DNA. No translation available.
    AC104423 Genomic DNA. No translation available.
    AC125437 Genomic DNA. No translation available.
    BC125219 mRNA. Translation: AAI25220.1 .
    BC125220 mRNA. Translation: AAI25221.1 .
    AK097757 mRNA. No translation available.
    U78978 mRNA. Translation: AAC05243.1 .
    AJ006268 mRNA. Translation: CAA06934.1 .
    CCDSi CCDS12014.1. [O43861-1 ]
    RefSeqi NP_940933.3. NM_198531.3. [O43861-1 ]
    XP_005266748.1. XM_005266691.1. [O43861-2 ]
    UniGenei Hs.465475.

    3D structure databases

    ProteinModelPortali O43861.
    SMRi O43861. Positions 707-985.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131925. 1 interaction.
    STRINGi 9606.ENSP00000304500.

    PTM databases

    PhosphoSitei O43861.

    Proteomic databases

    MaxQBi O43861.
    PaxDbi O43861.
    PRIDEi O43861.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307671 ; ENSP00000304500 ; ENSG00000166377 . [O43861-2 ]
    ENST00000426216 ; ENSP00000398076 ; ENSG00000166377 . [O43861-1 ]
    GeneIDi 374868.
    KEGGi hsa:374868.
    UCSCi uc002lmw.1. human. [O43861-2 ]
    uc002lmx.3. human. [O43861-1 ]

    Organism-specific databases

    CTDi 374868.
    GeneCardsi GC18P076855.
    HGNCi HGNC:13541. ATP9B.
    HPAi HPA029364.
    MIMi 614446. gene.
    neXtProti NX_O43861.
    PharmGKBi PA25172.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0474.
    HOGENOMi HOG000201571.
    HOVERGENi HBG050617.
    InParanoidi O43861.
    KOi K01530.
    OMAi SYANEAM.
    PhylomeDBi O43861.
    TreeFami TF300590.

    Enzyme and pathway databases

    Reactomei REACT_25149. Ion transport by P-type ATPases.

    Miscellaneous databases

    GenomeRNAii 374868.
    NextBioi 100277.
    PROi O43861.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43861.
    Bgeei O43861.
    CleanExi HS_ATP9B.
    Genevestigatori O43861.

    Family and domain databases

    Gene3Di 2.70.150.10. 2 hits.
    3.40.1110.10. 2 hits.
    3.40.50.1000. 2 hits.
    InterProi IPR023299. ATPase_P-typ_cyto_domN.
    IPR018303. ATPase_P-typ_P_site.
    IPR006539. ATPase_P-typ_Plipid-transp.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view ]
    PANTHERi PTHR24092. PTHR24092. 1 hit.
    Pfami PF00122. E1-E2_ATPase. 1 hit.
    PF00702. Hydrolase. 1 hit.
    [Graphical view ]
    PRINTSi PR00119. CATATPASE.
    SUPFAMi SSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsi TIGR01652. ATPase-Plipid. 1 hit.
    TIGR01494. ATPase_P-type. 3 hits.
    PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-39.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 41-472 (ISOFORMS 1/2).
      Tissue: Testis.
    4. "Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs."
      Halleck M.S., Pradhan D., Blackman C.F., Berkes C., Williamson P.L., Schlegel R.A.
      Genome Res. 8:354-361(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 811-1147 (ISOFORM 1).
      Tissue: Brain.
    5. "Characterization of 16 novel human genes showing high similarity to yeast sequences."
      Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
      Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 820-1147 (ISOFORM 1).
      Tissue: Brain.
    6. "ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner."
      Takatsu H., Baba K., Shima T., Umino H., Kato U., Umeda M., Nakayama K., Shin H.W.
      J. Biol. Chem. 286:38159-38167(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiATP9B_HUMAN
    AccessioniPrimary (citable) accession number: O43861
    Secondary accession number(s): O60872, Q08AD8, Q08AD9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 134 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    It is uncertain whether Met-1 or Met-53 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3