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Q8TF62

- AT8B4_HUMAN

UniProt

Q8TF62 - AT8B4_HUMAN

Protein

Probable phospholipid-transporting ATPase IM

Gene

ATP8B4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 3 (14 Oct 2008)
      Previous versions | rss
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    Functioni

    Component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules Probable.Curated

    Catalytic activityi

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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei392 – 39214-aspartylphosphate intermediateBy similarity
    Metal bindingi815 – 8151MagnesiumBy similarity
    Metal bindingi819 – 8191MagnesiumBy 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

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Lipid transport, Transport

    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 IM (EC:3.6.3.1)
    Alternative name(s):
    ATPase class I type 8B member 4
    P4-ATPase flippase complex alpha subunit ATP8B4
    Gene namesi
    Name:ATP8B4
    Synonyms:KIAA1939
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:13536. ATP8B4.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Golgi apparatus 1 Publication

    GO - Cellular componenti

    1. Golgi apparatus Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25169.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11921192Probable phospholipid-transporting ATPase IMPRO_0000046368Add
    BLAST

    Proteomic databases

    PaxDbiQ8TF62.
    PRIDEiQ8TF62.

    PTM databases

    PhosphoSiteiQ8TF62.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed at moderate levels.

    Gene expression databases

    ArrayExpressiQ8TF62.
    BgeeiQ8TF62.
    CleanExiHS_ATP8B4.
    GenevestigatoriQ8TF62.

    Organism-specific databases

    HPAiHPA040254.

    Interactioni

    Subunit structurei

    Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit Probable. Interacts with beta subunits TMEM30A and TMEM30B.2 PublicationsCurated

    Protein-protein interaction databases

    IntActiQ8TF62. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TF62.
    SMRiQ8TF62. Positions 789-849.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4444CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini67 – 726Exoplasmic loopSequence Analysis
    Topological domaini93 – 276184CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini299 – 32729Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini350 – 871522CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini893 – 90412Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini925 – 95430CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini977 – 99014Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini1014 – 10196CytoplasmicSequence Analysis
    Topological domaini1041 – 106020Exoplasmic loopSequence AnalysisAdd
    BLAST
    Topological domaini1086 – 1192107CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei45 – 6622HelicalSequence AnalysisAdd
    BLAST
    Transmembranei73 – 9220HelicalSequence AnalysisAdd
    BLAST
    Transmembranei277 – 29822HelicalSequence AnalysisAdd
    BLAST
    Transmembranei328 – 34922HelicalSequence AnalysisAdd
    BLAST
    Transmembranei872 – 89221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei905 – 92420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei955 – 97622HelicalSequence AnalysisAdd
    BLAST
    Transmembranei991 – 101323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1020 – 104021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1061 – 108525HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0474.
    HOGENOMiHOG000202528.
    HOVERGENiHBG050601.
    InParanoidiQ8TF62.
    KOiK01530.
    OMAiQNSMDCP.
    OrthoDBiEOG7RRF68.
    PhylomeDBiQ8TF62.
    TreeFamiTF300654.

    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.
    [Graphical view]
    PRINTSiPR00119. CATATPASE.
    SUPFAMiSSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsiTIGR01652. ATPase-Plipid. 1 hit.
    TIGR01494. ATPase_P-type. 2 hits.
    PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8TF62-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFCSEKKLRE VERIVKANDR EYNEKFQYAD NRIHTSKYNI LTFLPINLFE     50
    QFQRVANAYF LCLLILQLIP EISSLTWFTT IVPLVLVITM TAVKDATDDY 100
    FRHKSDNQVN NRQSEVLINS KLQNEKWMNV KVGDIIKLEN NQFVAADLLL 150
    LSSSEPHGLC YVETAELDGE TNLKVRHALS VTSELGADIS RLAGFDGIVV 200
    CEVPNNKLDK FMGILSWKDS KHSLNNEKII LRGCILRNTS WCFGMVIFAG 250
    PDTKLMQNSG KTKFKRTSID RLMNTLVLWI FGFLICLGII LAIGNSIWES 300
    QTGDQFRTFL FWNEGEKSSV FSGFLTFWSY IIILNTVVPI SLYVSVEVIR 350
    LGHSYFINWD RKMYYSRKAI PAVARTTTLN EELGQIEYIF SDKTGTLTQN 400
    IMTFKRCSIN GRIYGEVHDD LDQKTEITQE KEPVDFSVKS QADREFQFFD 450
    HHLMESIKMG DPKVHEFLRL LALCHTVMSE ENSAGELIYQ VQSPDEGALV 500
    TAARNFGFIF KSRTPETITI EELGTLVTYQ LLAFLDFNNT RKRMSVIVRN 550
    PEGQIKLYSK GADTILFEKL HPSNEVLLSL TSDHLSEFAG EGLRTLAIAY 600
    RDLDDKYFKE WHKMLEDANA ATEERDERIA GLYEEIERDL MLLGATAVED 650
    KLQEGVIETV TSLSLANIKI WVLTGDKQET AINIGYACNM LTDDMNDVFV 700
    IAGNNAVEVR EELRKAKQNL FGQNRNFSNG HVVCEKKQQL ELDSIVEETI 750
    TGDYALIING HSLAHALESD VKNDLLELAC MCKTVICCRV TPLQKAQVVE 800
    LVKKYRNAVT LAIGDGANDV SMIKSAHIGV GISGQEGLQA VLASDYSFAQ 850
    FRYLQRLLLV HGRWSYFRMC KFLCYFFYKN FAFTLVHFWF GFFCGFSAQT 900
    VYDQWFITLF NIVYTSLPVL AMGIFDQDVS DQNSVDCPQL YKPGQLNLLF 950
    NKRKFFICVL HGIYTSLVLF FIPYGAFYNV AGEDGQHIAD YQSFAVTMAT 1000
    SLVIVVSVQI ALDTSYWTFI NHVFIWGSIA IYFSILFTMH SNGIFGIFPN 1050
    QFPFVGNARH SLTQKCIWLV ILLTTVASVM PVVAFRFLKV DLYPTLSDQI 1100
    RRWQKAQKKA RPPSSRRPRT RRSSSRRSGY AFAHQEGYGE LITSGKNMRA 1150
    KNPPPTSGLE KTHYNSTSWI ENLCKKTTDT VSSFSQDKTV KL 1192
    Length:1,192
    Mass (Da):135,868
    Last modified:October 14, 2008 - v3
    Checksum:iFFE8D935B7544D73
    GO

    Sequence cautioni

    The sequence BAB85525.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin inserted in the coding sequence.
    The sequence BAB15072.1 differs from that shown. Reason: Frameshift at position 997.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti631 – 6311G → E in BAB85525. (PubMed:11853319)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti225 – 2251N → S.
    Corresponds to variant rs16963151 [ dbSNP | Ensembl ].
    VAR_046962
    Natural varianti452 – 4521H → N.
    Corresponds to variant rs2452524 [ dbSNP | Ensembl ].
    VAR_046963
    Natural varianti1165 – 11651N → K.
    Corresponds to variant rs16962989 [ dbSNP | Ensembl ].
    VAR_046964
    Natural varianti1190 – 11901V → G.
    Corresponds to variant rs16962987 [ dbSNP | Ensembl ].
    VAR_046965

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB075819 mRNA. Translation: BAB85525.1. Sequence problems.
    AC009753 Genomic DNA. No translation available.
    AC016045 Genomic DNA. No translation available.
    AC025040 Genomic DNA. No translation available.
    AK025125 mRNA. Translation: BAB15072.1. Frameshift.
    CCDSiCCDS32238.1.
    RefSeqiNP_079113.2. NM_024837.3.
    UniGeneiHs.511311.

    Genome annotation databases

    EnsembliENST00000284509; ENSP00000284509; ENSG00000104043.
    ENST00000559829; ENSP00000453169; ENSG00000104043.
    GeneIDi79895.
    KEGGihsa:79895.
    UCSCiuc001zxu.3. human.

    Polymorphism databases

    DMDMi209572761.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB075819 mRNA. Translation: BAB85525.1 . Sequence problems.
    AC009753 Genomic DNA. No translation available.
    AC016045 Genomic DNA. No translation available.
    AC025040 Genomic DNA. No translation available.
    AK025125 mRNA. Translation: BAB15072.1 . Frameshift.
    CCDSi CCDS32238.1.
    RefSeqi NP_079113.2. NM_024837.3.
    UniGenei Hs.511311.

    3D structure databases

    ProteinModelPortali Q8TF62.
    SMRi Q8TF62. Positions 789-849.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q8TF62. 2 interactions.

    PTM databases

    PhosphoSitei Q8TF62.

    Polymorphism databases

    DMDMi 209572761.

    Proteomic databases

    PaxDbi Q8TF62.
    PRIDEi Q8TF62.

    Protocols and materials databases

    DNASUi 79895.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000284509 ; ENSP00000284509 ; ENSG00000104043 .
    ENST00000559829 ; ENSP00000453169 ; ENSG00000104043 .
    GeneIDi 79895.
    KEGGi hsa:79895.
    UCSCi uc001zxu.3. human.

    Organism-specific databases

    CTDi 79895.
    GeneCardsi GC15M050150.
    HGNCi HGNC:13536. ATP8B4.
    HPAi HPA040254.
    MIMi 609123. gene.
    neXtProti NX_Q8TF62.
    PharmGKBi PA25169.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0474.
    HOGENOMi HOG000202528.
    HOVERGENi HBG050601.
    InParanoidi Q8TF62.
    KOi K01530.
    OMAi QNSMDCP.
    OrthoDBi EOG7RRF68.
    PhylomeDBi Q8TF62.
    TreeFami TF300654.

    Enzyme and pathway databases

    Reactomei REACT_25149. Ion transport by P-type ATPases.

    Miscellaneous databases

    ChiTaRSi ATP8B4. human.
    GenomeRNAii 79895.
    NextBioi 69726.
    PROi Q8TF62.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TF62.
    Bgeei Q8TF62.
    CleanExi HS_ATP8B4.
    Genevestigatori Q8TF62.

    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.
    [Graphical view ]
    PRINTSi PR00119. CATATPASE.
    SUPFAMi SSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsi TIGR01652. ATPase-Plipid. 1 hit.
    TIGR01494. ATPase_P-type. 2 hits.
    PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
      Nagase T., Kikuno R., Ohara O.
      DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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 907-1192.
      Tissue: Colon.
    4. "Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases."
      van der Velden L.M., Wichers C.G., van Breevoort A.E., Coleman J.A., Molday R.S., Berger R., Klomp L.W., van de Graaf S.F.
      J. Biol. Chem. 285:40088-40096(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TMEM30A, SUBCELLULAR LOCATION.
    5. "CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery."
      Bryde S., Hennrich H., Verhulst P.M., Devaux P.F., Lenoir G., Holthuis J.C.
      J. Biol. Chem. 285:40562-40572(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TMEM30A AND TMEM30B.

    Entry informationi

    Entry nameiAT8B4_HUMAN
    AccessioniPrimary (citable) accession number: Q8TF62
    Secondary accession number(s): Q9H727
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 30, 2003
    Last sequence update: October 14, 2008
    Last modified: October 1, 2014
    This is version 117 of the entry and version 3 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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