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UniProtKB - O94911 (ABCA8_HUMAN)

Protein

ATP-binding cassette sub-family A member 8

Gene

ABCA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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)DescriptionActionsGraphical viewLength
    Nucleotide bindingi516 – 523ATP 1PROSITE-ProRule annotation8
    Nucleotide bindingi1283 – 1290ATP 2PROSITE-ProRule annotation8

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    • lipid transport Source: GO_Central
    • transmembrane transport Source: Reactome
    View the complete GO annotation on QuickGO ...

    Keywordsi

    Biological processTransport
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiR-HSA-382556 ABC-family proteins mediated transport
    SABIO-RKiO94911

    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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome 17

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000141338.13
    HGNCiHGNC:38 ABCA8
    MIMi612505 gene
    neXtProtiNX_O94911

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
    Transmembranei220 – 240HelicalSequence analysisAdd BLAST21
    Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
    Transmembranei299 – 319HelicalSequence analysisAdd BLAST21
    Transmembranei327 – 347HelicalSequence analysisAdd BLAST21
    Transmembranei359 – 379HelicalSequence analysisAdd BLAST21
    Transmembranei397 – 417HelicalSequence analysisAdd BLAST21
    Transmembranei824 – 844HelicalSequence analysisAdd BLAST21
    Transmembranei979 – 999HelicalSequence analysisAdd BLAST21
    Transmembranei1030 – 1050HelicalSequence analysisAdd BLAST21
    Transmembranei1066 – 1086HelicalSequence analysisAdd BLAST21
    Transmembranei1096 – 1116HelicalSequence analysisAdd BLAST21
    Transmembranei1121 – 1141HelicalSequence analysisAdd BLAST21
    Transmembranei1157 – 1177HelicalSequence analysisAdd BLAST21

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    DisGeNETi10351
    OpenTargetsiENSG00000141338
    PharmGKBiPA24383

    Polymorphism and mutation databases

    BioMutaiABCA8

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002506771 – 1581ATP-binding cassette sub-family A member 8Add BLAST1581

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi84N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi243N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi555N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi908N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO94911
    PeptideAtlasiO94911
    PRIDEiO94911
    ProteomicsDBi50546
    50547 [O94911-2]

    PTM databases

    iPTMnetiO94911
    PhosphoSitePlusiO94911

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000141338 Expressed in 226 organ(s), highest expression level in corpus callosum
    CleanExiHS_ABCA8
    ExpressionAtlasiO94911 baseline and differential
    GenevisibleiO94911 HS

    Organism-specific databases

    HPAiHPA044914

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000269080

    Structurei

    3D structure databases

    ProteinModelPortaliO94911
    SMRiO94911
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini480 – 675ABC transporter 1PROSITE-ProRule annotationAdd BLAST196
    Domaini1245 – 1478ABC transporter 2PROSITE-ProRule annotationAdd BLAST234

    Sequence similaritiesi

    Belongs to the ABC transporter superfamily. ABCA family.Curated

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG0059 Eukaryota
    COG1131 LUCA
    GeneTreeiENSGT00760000118965
    HOGENOMiHOG000231057
    HOVERGENiHBG079884
    InParanoidiO94911
    KOiK05650
    OMAiCTIARVR
    OrthoDBiEOG091G00AG
    PhylomeDBiO94911
    TreeFamiTF105192

    Family and domain databases

    InterProiView protein in InterPro
    IPR003593 AAA+_ATPase
    IPR003439 ABC_transporter-like
    IPR026082 ABCA
    IPR027417 P-loop_NTPase
    PANTHERiPTHR19229 PTHR19229, 2 hits
    PfamiView protein in Pfam
    PF00005 ABC_tran, 2 hits
    SMARTiView protein in SMART
    SM00382 AAA, 2 hits
    SUPFAMiSSF52540 SSF52540, 2 hits
    PROSITEiView protein in PROSITE
    PS50893 ABC_TRANSPORTER_2, 2 hits

    Sequences (3+)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

    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
            10         20         30         40         50
    MRKRKISVCQ QTWALLCKNF LKKWRMKRES LMEWLNSLLL LLCLYIYPHS 
            60         70         80         90        100
    HQVNDFSSLL TMDLGRVDTF NESRFSVVYT PVTNTTQQIM NKVASTPFLA 
           110        120        130        140        150
    GKEVLGLPDE ESIKEFTANY PEEIVRVTFT NTYSYHLKFL LGHGMPAKKE 
           160        170        180        190        200
    HKDHTAHCYE TNEDVYCEVS VFWKEGFVAL QAAINAAIIE ITTNHSVMEE 
           210        220        230        240        250
    LMSVTGKNMK MHSFIGQSGV ITDLYLFSCI ISFSSFIYYA SVNVTRERKR 
           260        270        280        290        300
    MKALMTMMGL RDSAFWLSWG LLYAGFIFIM ALFLALVIRS TQFIILSGFM 
           310        320        330        340        350
    VVFSLFLLYG LSLVALAFLM SILVKKSFLT GLVVFLLTVF WGCLGFTSLY 
           360        370        380        390        400
    RHLPASLEWI LSLLSPFAFM LGMAQLLHLD YDLNSNAFPH PSDGSNLIVA 
           410        420        430        440        450
    TNFMLAFDTC LYLALAIYFE KILPNEYGHR RPPLFFLKSS FWSQTQKTDH 
           460        470        480        490        500
    VALEDEMDAD PSFHDSFEQA PPEFQGKEAI RIRNVTKEYK GKPDKIEALK 
           510        520        530        540        550
    DLVFDIYEGQ ITAILGHSGA GKSTLLNILS GLSVPTKGSV TIYNNKLSEM 
           560        570        580        590        600
    ADLENLSKLT GVCPQSNVQF DFLTVRENLR LFAKIKGILP QEVDKEIFLL 
           610        620        630        640        650
    DEPTAGLDPF SRHQVWNLLK ERKTDRVILF STQFMDEADI LADRKVFLSQ 
           660        670        680        690        700
    GKLKCAGSSL FLKKKWGIGY HLSLQLNEIC VEENITSLVK QHIPDAKLSA 
           710        720        730        740        750
    KSEGKLIYTL PLERTNKFPE LYKDLDSYPD LGIENYGVSM TTLNEVFLKL 
           760        770        780        790        800
    EGKSTINESD IAILGEVQAE KADDTERLVE MEQVLSSLNK MRKTIGGVAL 
           810        820        830        840        850
    WRQQICAIAR VRLLKLKHER KALLALLLIL MAGFCPLLVE YTMVKIYQNS 
           860        870        880        890        900
    YTWELSPHLY FLAPGQQPHD PLTQLLIINK TGASIDDFIQ SVEHQNIALE 
           910        920        930        940        950
    VDAFGTRNGT DDPSYNGAIT VCCNEKNYSF SLACNAKRLN CFPVLMDIVS 
           960        970        980        990       1000
    NGLLGMVKPS VHIRTERSTF LENGQDNPIG FLAYIMFWLV LTSSCPPYIA 
          1010       1020       1030       1040       1050
    MSSIDDYKNR ARSQLRISGL SPSAYWFGQA LVDVSLYFLV FVFIYLMSYI 
          1060       1070       1080       1090       1100
    SNFEDMLLTI IHIIQIPCAV GYSFSLIFMT YVISFIFRKG RKNSGIWSFC 
          1110       1120       1130       1140       1150
    FYVVTVFSVA GFAFSIFESD IPFIFTFLIP PATMIGCLFL SSHLLFSSLF 
          1160       1170       1180       1190       1200
    SEERMDVQPF LVFLIPFLHF IIFLFTLRCL EWKFGKKSMR KDPFFRISPR 
          1210       1220       1230       1240       1250
    SSDVCQNPEE PEGEDEDVQM ERVRTANALN STNFDEKPVI IASCLRKEYA 
          1260       1270       1280       1290       1300
    GKRKGCFSKR KNKIATRNVS FCVRKGEVLG LLGHNGAGKS TSIKVITGDT 
          1310       1320       1330       1340       1350
    KPTAGQVLLK GSGGGDALEF LGYCPQENAL WPNLTVRQHL EVYAAVKGLR 
          1360       1370       1380       1390       1400
    KGDAEVAITR LVDALKLQDQ LKSPVKTLSE GIKRKLCFVL SILGNPSVVL 
          1410       1420       1430       1440       1450
    LDEPSTGMDP EGQQQMWQAI RATFRNTERG ALLTTHYMAE AEAVCDRVAI 
          1460       1470       1480       1490       1500
    MVSGRLRCIG SIQHLKSKFG KDYLLEMKVK NLAQVEPLHA EILRLFPQAA 
          1510       1520       1530       1540       1550
    RQERYSSLMV YKLPVEDVQP LAQAFFKLEK VKQSFDLEEY SLSQSTLEQV 
          1560       1570       1580 
    FLELSKEQEL GDFEEDFDPS VKWKLLPQEE P
    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

    Computationally mapped potential isoform sequencesi

    There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    A0A0A0MSU4A0A0A0MSU4_HUMAN
    ATP-binding cassette sub-family A m...
    ABCA8
    		1,616Annotation score:
    A0A075B774A0A075B774_HUMAN
    ATP-binding cassette sub-family A m...
    ABCA8
    		702Annotation score:
    Q49AI9Q49AI9_HUMAN
    ABCA8 protein
    ABCA8
    		156Annotation score:
    K7ELK9K7ELK9_HUMAN
    ATP-binding cassette sub-family A m...
    ABCA8
    		115Annotation score:

    Sequence cautioni

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

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_027590256T → A. Corresponds to variant dbSNP:rs16973446Ensembl.1
    Natural variantiVAR_027591331G → S1 PublicationCorresponds to variant dbSNP:rs4147979Ensembl.1
    Natural variantiVAR_048130416A → V1 PublicationCorresponds to variant dbSNP:rs35621847Ensembl.1
    Natural variantiVAR_027592489Y → F. Corresponds to variant dbSNP:rs12150510Ensembl.1
    Natural variantiVAR_048131619L → R. Corresponds to variant dbSNP:rs35844316Ensembl.1
    Natural variantiVAR_027593680C → G. Corresponds to variant dbSNP:rs16973424Ensembl.1
    Natural variantiVAR_0481321430G → S. Corresponds to variant dbSNP:rs35403175Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_020703267 – 1581Missing in isoform 2. 1 PublicationAdd BLAST1315
    Alternative sequenceiVSP_053440596E → EIQRVLLELEMKNIQDVLAQ NLSGGQKRKLTFGIAILGDP Q in isoform 3. 1 Publication1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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]
    CCDS74139.1 [O94911-3]
    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_005256938.2
    UniGeneiHs.58351

    Genome annotation databases

    EnsembliENST00000269080; ENSP00000269080; ENSG00000141338 [O94911-1]
    ENST00000586539; ENSP00000467271; ENSG00000141338 [O94911-3]
    GeneIDi10351
    KEGGihsa:10351
    UCSCiuc002jhp.5 human [O94911-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    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]
    CCDS74139.1 [O94911-3]
    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_005256938.2
    UniGeneiHs.58351

    3D structure databases

    ProteinModelPortaliO94911
    SMRiO94911
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    STRINGi9606.ENSP00000269080

    Protein family/group databases

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

    PTM databases

    iPTMnetiO94911
    PhosphoSitePlusiO94911

    Polymorphism and mutation databases

    BioMutaiABCA8

    Proteomic databases

    PaxDbiO94911
    PeptideAtlasiO94911
    PRIDEiO94911
    ProteomicsDBi50546
    50547 [O94911-2]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000269080; ENSP00000269080; ENSG00000141338 [O94911-1]
    ENST00000586539; ENSP00000467271; ENSG00000141338 [O94911-3]
    GeneIDi10351
    KEGGihsa:10351
    UCSCiuc002jhp.5 human [O94911-1]

    Organism-specific databases

    CTDi10351
    DisGeNETi10351
    EuPathDBiHostDB:ENSG00000141338.13
    GeneCardsiABCA8
    H-InvDBiHIX0014119
    HIX0173681
    HGNCiHGNC:38 ABCA8
    HPAiHPA044914
    MIMi612505 gene
    neXtProtiNX_O94911
    OpenTargetsiENSG00000141338
    PharmGKBiPA24383
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0059 Eukaryota
    COG1131 LUCA
    GeneTreeiENSGT00760000118965
    HOGENOMiHOG000231057
    HOVERGENiHBG079884
    InParanoidiO94911
    KOiK05650
    OMAiCTIARVR
    OrthoDBiEOG091G00AG
    PhylomeDBiO94911
    TreeFamiTF105192

    Enzyme and pathway databases

    ReactomeiR-HSA-382556 ABC-family proteins mediated transport
    SABIO-RKiO94911

    Miscellaneous databases

    ChiTaRSiABCA8 human
    GeneWikiiABCA8
    GenomeRNAii10351
    PROiPR:O94911
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000141338 Expressed in 226 organ(s), highest expression level in corpus callosum
    CleanExiHS_ABCA8
    ExpressionAtlasiO94911 baseline and differential
    GenevisibleiO94911 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR003593 AAA+_ATPase
    IPR003439 ABC_transporter-like
    IPR026082 ABCA
    IPR027417 P-loop_NTPase
    PANTHERiPTHR19229 PTHR19229, 2 hits
    PfamiView protein in Pfam
    PF00005 ABC_tran, 2 hits
    SMARTiView protein in SMART
    SM00382 AAA, 2 hits
    SUPFAMiSSF52540 SSF52540, 2 hits
    PROSITEiView protein in PROSITE
    PS50893 ABC_TRANSPORTER_2, 2 hits
    ProtoNetiSearch...

    Entry informationi

    Entry nameiABCA8_HUMAN
    AccessioniPrimary (citable) accession number: O94911
    Secondary accession number(s): A1L3U3, C9JQE6, Q86WW0
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: October 3, 2006
    Last modified: November 7, 2018
    This is version 149 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
      Index of protein domains and families
    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. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
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