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Protein

ATP-binding cassette sub-family A member 8

Gene

ABCA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

    GO - Biological processi

    • lipid transport Source: GO_Central
    • transmembrane transport Source: Reactome
    • transport Source: MGI
    Complete GO annotation...

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000141338-MONOMER.
    ReactomeiR-HSA-382556. 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
    Proteomesi
    • UP000005640 Componenti: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:38. ABCA8.

    Subcellular locationi

    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

    GO - Cellular componenti

    Complete GO annotation...

    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...)1 Publication1
    Glycosylationi243N-linked (GlcNAc...)Sequence analysis1
    Glycosylationi484N-linked (GlcNAc...)Sequence analysis1
    Glycosylationi555N-linked (GlcNAc...)Sequence analysis1
    Glycosylationi908N-linked (GlcNAc...)Sequence analysis1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO94911.
    PeptideAtlasiO94911.
    PRIDEiO94911.

    PTM databases

    iPTMnetiO94911.
    PhosphoSitePlusiO94911.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000141338.
    CleanExiHS_ABCA8.
    ExpressionAtlasiO94911. baseline and differential.
    GenevisibleiO94911. HS.

    Organism-specific databases

    HPAiHPA044914.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000269080.

    Structurei

    3D structure databases

    ProteinModelPortaliO94911.
    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

    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG0059. Eukaryota.
    COG1131. LUCA.
    GeneTreeiENSGT00760000118965.
    HOGENOMiHOG000231057.
    HOVERGENiHBG079884.
    InParanoidiO94911.
    KOiK05650.
    OMAiFTANYPE.
    OrthoDBiEOG091G00AG.
    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. AlignAdd to basket

    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

    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 rs16973446dbSNPEnsembl.1
    Natural variantiVAR_027591331G → S.1 PublicationCorresponds to variant rs4147979dbSNPEnsembl.1
    Natural variantiVAR_048130416A → V.1 PublicationCorresponds to variant rs35621847dbSNPEnsembl.1
    Natural variantiVAR_027592489Y → F.Corresponds to variant rs12150510dbSNPEnsembl.1
    Natural variantiVAR_048131619L → R.Corresponds to variant rs35844316dbSNPEnsembl.1
    Natural variantiVAR_027593680C → G.Corresponds to variant rs16973424dbSNPEnsembl.1
    Natural variantiVAR_0481321430G → S.Corresponds to variant rs35403175dbSNPEnsembl.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. [O94911-3]
    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

    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. [O94911-3]
    UniGeneiHs.58351.

    3D structure databases

    ProteinModelPortaliO94911.
    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.

    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.
    GeneCardsiABCA8.
    H-InvDBHIX0014119.
    HIX0173681.
    HGNCiHGNC:38. ABCA8.
    HPAiHPA044914.
    MIMi612505. gene.
    neXtProtiNX_O94911.
    OpenTargetsiENSG00000141338.
    PharmGKBiPA24383.
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

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

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000141338-MONOMER.
    ReactomeiR-HSA-382556. ABC-family proteins mediated transport.
    SABIO-RKO94911.

    Miscellaneous databases

    ChiTaRSiABCA8. human.
    GeneWikiiABCA8.
    GenomeRNAii10351.
    PROiO94911.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000141338.
    CleanExiHS_ABCA8.
    ExpressionAtlasiO94911. baseline and differential.
    GenevisibleiO94911. HS.

    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]
    ProtoNetiSearch...

    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: November 2, 2016
    This is version 135 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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.