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O94911

- ABCA8_HUMAN

UniProt

O94911 - ABCA8_HUMAN

Protein

ATP-binding cassette sub-family A member 8

Gene

ABCA8

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 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    ATP-dependent lipophilic drug transporter.1 Publication

    Kineticsi

    1. KM=30.4 µM for estradiol-beta-glucuronide1 Publication
    2. KM=0.1 µM for LTC41 Publication
    3. KM=10.3 µM for taurochlorate1 Publication
    4. KM=5.0 µM for PAH1 Publication
    5. KM=0.5 µM for estrone sulfate1 Publication
    6. KM=0.4 µM for ochratoxin A1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi516 – 5238ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1283 – 12908ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: MGI
    2. ATP binding Source: UniProtKB-KW

    GO - Biological processi

    1. transmembrane transport Source: Reactome
    2. transport Source: MGI

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_15480. ABC-family proteins mediated transport.
    SABIO-RKO94911.

    Protein family/group databases

    TCDBi3.A.1.211.6. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family A member 8
    Gene namesi
    Name:ABCA8
    Synonyms:KIAA0822
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:38. ABCA8.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: Ensembl
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24383.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 15811581ATP-binding cassette sub-family A member 8PRO_0000250677Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi84 – 841N-linked (GlcNAc...)1 Publication
    Glycosylationi243 – 2431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi484 – 4841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi555 – 5551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi908 – 9081N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO94911.
    PRIDEiO94911.

    PTM databases

    PhosphoSiteiO94911.

    Expressioni

    Tissue specificityi

    Widely expressed with higher expression in heart, skeletal muscle and liver.1 Publication

    Gene expression databases

    ArrayExpressiO94911.
    BgeeiO94911.
    CleanExiHS_ABCA8.
    GenevestigatoriO94911.

    Organism-specific databases

    HPAiHPA044914.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000269080.

    Structurei

    3D structure databases

    ProteinModelPortaliO94911.
    SMRiO94911. Positions 439-715, 1240-1480.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei30 – 5021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei220 – 24021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei268 – 28821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei299 – 31921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei327 – 34721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei359 – 37921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei397 – 41721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei824 – 84421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei979 – 99921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1030 – 105021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1066 – 108621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1096 – 111621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1121 – 114121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1157 – 117721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini480 – 675196ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1245 – 1478234ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1131.
    HOVERGENiHBG079884.
    InParanoidiO94911.
    KOiK05650.
    OMAiVQFVILT.
    OrthoDBiEOG73Z2SB.
    PhylomeDBiO94911.
    TreeFamiTF105192.

    Family and domain databases

    Gene3Di3.40.50.300. 3 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR026082. ABC_A.
    IPR003439. ABC_transporter-like.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PANTHERiPTHR19229. PTHR19229. 1 hit.
    PfamiPF00005. ABC_tran. 2 hits.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    PROSITEiPS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O94911-1) [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

    MRKRKISVCQ QTWALLCKNF LKKWRMKRES LMEWLNSLLL LLCLYIYPHS     50
    HQVNDFSSLL TMDLGRVDTF NESRFSVVYT PVTNTTQQIM NKVASTPFLA 100
    GKEVLGLPDE ESIKEFTANY PEEIVRVTFT NTYSYHLKFL LGHGMPAKKE 150
    HKDHTAHCYE TNEDVYCEVS VFWKEGFVAL QAAINAAIIE ITTNHSVMEE 200
    LMSVTGKNMK MHSFIGQSGV ITDLYLFSCI ISFSSFIYYA SVNVTRERKR 250
    MKALMTMMGL RDSAFWLSWG LLYAGFIFIM ALFLALVIRS TQFIILSGFM 300
    VVFSLFLLYG LSLVALAFLM SILVKKSFLT GLVVFLLTVF WGCLGFTSLY 350
    RHLPASLEWI LSLLSPFAFM LGMAQLLHLD YDLNSNAFPH PSDGSNLIVA 400
    TNFMLAFDTC LYLALAIYFE KILPNEYGHR RPPLFFLKSS FWSQTQKTDH 450
    VALEDEMDAD PSFHDSFEQA PPEFQGKEAI RIRNVTKEYK GKPDKIEALK 500
    DLVFDIYEGQ ITAILGHSGA GKSTLLNILS GLSVPTKGSV TIYNNKLSEM 550
    ADLENLSKLT GVCPQSNVQF DFLTVRENLR LFAKIKGILP QEVDKEIFLL 600
    DEPTAGLDPF SRHQVWNLLK ERKTDRVILF STQFMDEADI LADRKVFLSQ 650
    GKLKCAGSSL FLKKKWGIGY HLSLQLNEIC VEENITSLVK QHIPDAKLSA 700
    KSEGKLIYTL PLERTNKFPE LYKDLDSYPD LGIENYGVSM TTLNEVFLKL 750
    EGKSTINESD IAILGEVQAE KADDTERLVE MEQVLSSLNK MRKTIGGVAL 800
    WRQQICAIAR VRLLKLKHER KALLALLLIL MAGFCPLLVE YTMVKIYQNS 850
    YTWELSPHLY FLAPGQQPHD PLTQLLIINK TGASIDDFIQ SVEHQNIALE 900
    VDAFGTRNGT DDPSYNGAIT VCCNEKNYSF SLACNAKRLN CFPVLMDIVS 950
    NGLLGMVKPS VHIRTERSTF LENGQDNPIG FLAYIMFWLV LTSSCPPYIA 1000
    MSSIDDYKNR ARSQLRISGL SPSAYWFGQA LVDVSLYFLV FVFIYLMSYI 1050
    SNFEDMLLTI IHIIQIPCAV GYSFSLIFMT YVISFIFRKG RKNSGIWSFC 1100
    FYVVTVFSVA GFAFSIFESD IPFIFTFLIP PATMIGCLFL SSHLLFSSLF 1150
    SEERMDVQPF LVFLIPFLHF IIFLFTLRCL EWKFGKKSMR KDPFFRISPR 1200
    SSDVCQNPEE PEGEDEDVQM ERVRTANALN STNFDEKPVI IASCLRKEYA 1250
    GKRKGCFSKR KNKIATRNVS FCVRKGEVLG LLGHNGAGKS TSIKVITGDT 1300
    KPTAGQVLLK GSGGGDALEF LGYCPQENAL WPNLTVRQHL EVYAAVKGLR 1350
    KGDAEVAITR LVDALKLQDQ LKSPVKTLSE GIKRKLCFVL SILGNPSVVL 1400
    LDEPSTGMDP EGQQQMWQAI RATFRNTERG ALLTTHYMAE AEAVCDRVAI 1450
    MVSGRLRCIG SIQHLKSKFG KDYLLEMKVK NLAQVEPLHA EILRLFPQAA 1500
    RQERYSSLMV YKLPVEDVQP LAQAFFKLEK VKQSFDLEEY SLSQSTLEQV 1550
    FLELSKEQEL GDFEEDFDPS VKWKLLPQEE P 1581
    Length:1,581
    Mass (Da):179,245
    Last modified:October 3, 2006 - v3
    Checksum:i8BEB6F74B4130ACA
    GO
    Isoform 2 (identifier: O94911-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         267-1581: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:266
    Mass (Da):30,788
    Checksum:i45A0B73CEDC97079
    GO
    Isoform 3 (identifier: O94911-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         596-596: E → EIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQ

    Note: No experimental confirmation available.

    Show »
    Length:1,621
    Mass (Da):183,677
    Checksum:iC50C8E2624BA4734
    GO

    Sequence cautioni

    The sequence BAA74845.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti256 – 2561T → A.
    Corresponds to variant rs16973446 [ dbSNP | Ensembl ].
    VAR_027590
    Natural varianti331 – 3311G → S.1 Publication
    Corresponds to variant rs4147979 [ dbSNP | Ensembl ].
    VAR_027591
    Natural varianti416 – 4161A → V.1 Publication
    Corresponds to variant rs35621847 [ dbSNP | Ensembl ].
    VAR_048130
    Natural varianti489 – 4891Y → F.
    Corresponds to variant rs12150510 [ dbSNP | Ensembl ].
    VAR_027592
    Natural varianti619 – 6191L → R.
    Corresponds to variant rs35844316 [ dbSNP | Ensembl ].
    VAR_048131
    Natural varianti680 – 6801C → G.
    Corresponds to variant rs16973424 [ dbSNP | Ensembl ].
    VAR_027593
    Natural varianti1430 – 14301G → S.
    Corresponds to variant rs35403175 [ dbSNP | Ensembl ].
    VAR_048132

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei267 – 15811315Missing in isoform 2. 1 PublicationVSP_020703Add
    BLAST
    Alternative sequencei596 – 5961E → EIQRVLLELEMKNIQDVLAQ NLSGGQKRKLTFGIAILGDP Q in isoform 3. 1 PublicationVSP_053440

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB020629 mRNA. Translation: BAA74845.2. Different initiation.
    AC005922 Genomic DNA. No translation available.
    AC015844 Genomic DNA. No translation available.
    BC024003 mRNA. Translation: AAH24003.1.
    BC047765 mRNA. Translation: AAH47765.1.
    BC094689 mRNA. Translation: AAH94689.1.
    BC130280 mRNA. Translation: AAI30281.1.
    CCDSiCCDS11680.1. [O94911-1]
    RefSeqiNP_001275914.1. NM_001288985.1. [O94911-3]
    NP_001275915.1. NM_001288986.1.
    NP_009099.1. NM_007168.3. [O94911-1]
    XP_005256995.1. XM_005256938.1. [O94911-3]
    UniGeneiHs.58351.

    Genome annotation databases

    EnsembliENST00000269080; ENSP00000269080; ENSG00000141338. [O94911-1]
    ENST00000430352; ENSP00000402814; ENSG00000141338. [O94911-3]
    ENST00000586539; ENSP00000467271; ENSG00000141338. [O94911-3]
    GeneIDi10351.
    KEGGihsa:10351.
    UCSCiuc002jhp.3. human. [O94911-1]
    uc002jhs.3. human. [O94911-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB020629 mRNA. Translation: BAA74845.2 . Different initiation.
    AC005922 Genomic DNA. No translation available.
    AC015844 Genomic DNA. No translation available.
    BC024003 mRNA. Translation: AAH24003.1 .
    BC047765 mRNA. Translation: AAH47765.1 .
    BC094689 mRNA. Translation: AAH94689.1 .
    BC130280 mRNA. Translation: AAI30281.1 .
    CCDSi CCDS11680.1. [O94911-1 ]
    RefSeqi NP_001275914.1. NM_001288985.1. [O94911-3 ]
    NP_001275915.1. NM_001288986.1.
    NP_009099.1. NM_007168.3. [O94911-1 ]
    XP_005256995.1. XM_005256938.1. [O94911-3 ]
    UniGenei Hs.58351.

    3D structure databases

    ProteinModelPortali O94911.
    SMRi O94911. Positions 439-715, 1240-1480.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000269080.

    Protein family/group databases

    TCDBi 3.A.1.211.6. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei O94911.

    Proteomic databases

    PaxDbi O94911.
    PRIDEi O94911.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269080 ; ENSP00000269080 ; ENSG00000141338 . [O94911-1 ]
    ENST00000430352 ; ENSP00000402814 ; ENSG00000141338 . [O94911-3 ]
    ENST00000586539 ; ENSP00000467271 ; ENSG00000141338 . [O94911-3 ]
    GeneIDi 10351.
    KEGGi hsa:10351.
    UCSCi uc002jhp.3. human. [O94911-1 ]
    uc002jhs.3. human. [O94911-2 ]

    Organism-specific databases

    CTDi 10351.
    GeneCardsi GC17M066863.
    H-InvDB HIX0014119.
    HIX0173681.
    HGNCi HGNC:38. ABCA8.
    HPAi HPA044914.
    MIMi 612505. gene.
    neXtProti NX_O94911.
    PharmGKBi PA24383.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1131.
    HOVERGENi HBG079884.
    InParanoidi O94911.
    KOi K05650.
    OMAi VQFVILT.
    OrthoDBi EOG73Z2SB.
    PhylomeDBi O94911.
    TreeFami TF105192.

    Enzyme and pathway databases

    Reactomei REACT_15480. ABC-family proteins mediated transport.
    SABIO-RK O94911.

    Miscellaneous databases

    ChiTaRSi ABCA8. human.
    GeneWikii ABCA8.
    GenomeRNAii 10351.
    NextBioi 35460531.
    PROi O94911.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O94911.
    Bgeei O94911.
    CleanExi HS_ABCA8.
    Genevestigatori O94911.

    Family and domain databases

    Gene3Di 3.40.50.300. 3 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR026082. ABC_A.
    IPR003439. ABC_transporter-like.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    PANTHERi PTHR19229. PTHR19229. 1 hit.
    Pfami PF00005. ABC_tran. 2 hits.
    [Graphical view ]
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    PROSITEi PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. Ohara O., Suyama M., Kikuno R., Nagase T., Ishikawa K.
      Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 2 AND 3), VARIANT VAL-416.
      Tissue: Testis.
    5. Cited for: FUNCTION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
    6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-84.
      Tissue: Liver.
    7. "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8."
      Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K., Harigae S., Osawa S., Nakamura Y.
      J. Hum. Genet. 47:285-310(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-331.

    Entry informationi

    Entry nameiABCA8_HUMAN
    AccessioniPrimary (citable) accession number: O94911
    Secondary accession number(s): A1L3U3, C9JQE6, Q86WW0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: October 3, 2006
    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 17
      Human chromosome 17: 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