Skip Header

 
Contribute Send feedback

Reviewed, UniProtKB/Swiss-Prot O94911 (ABCA8_HUMAN)

Last modified November 25, 2008. Version 58. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Hide | Top

Names and origin

Protein namesRecommended name:
    ATP-binding cassette sub-family A member 8
Gene names
Name: ABCA8
Synonyms: KIAA0822
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length1581 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

Hide | Top

General annotation (Comments)

Function

ATP-dependent lipophilic drug transporter.

Subcellular location

Cell membrane; Multi-pass membrane proteinProbable.

Tissue specificity

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

Sequence similarities

Belongs to the ABC transporter family. ABCA subfamily.

Contains 2 ABC transporter domains.

Biophysicochemical properties

Kinetic parameters:

KM=30.4 µM for estradiol-beta-glucuronide

KM=0.1 µM for LTC4

KM=10.3 µM for taurochlorate

KM=5.0 µM for PAH

KM=0.5 µM for estrone sulfate

KM=0.4 µM for ochratoxin A

Hide | Top

Ontologies

Keywords

   Biological processTransport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
   LigandATP-binding
Nucleotide-binding
   PTMGlycoprotein

Gene Ontology (GO)

   Biological processtransport Ref.4

Inferred from direct assay. Source: MGI

   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionATP binding

Inferred from electronic annotation. Source: InterPro

ATPase activity, coupled to transmembrane movement of substances Ref.4

Inferred from direct assay. Source: MGI

Complete GO annotation...

Hide | Top

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O94911-1)

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.
Isoform 2 (identifier: O94911-2)

The sequence of this isoform differs from the canonical sequence as follows:
     267-1581: Missing.
Notes: No experimental confirmation available.

Hide | Top

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15811581ATP-binding cassette sub-family A member 8
PRO_0000250677

Regions

Transmembrane30 – 5021 Potential
Transmembrane220 – 24021 Potential
Transmembrane268 – 28821 Potential
Transmembrane299 – 31921 Potential
Transmembrane327 – 34721 Potential
Transmembrane359 – 37921 Potential
Transmembrane397 – 41721 Potential
Transmembrane824 – 84421 Potential
Transmembrane979 – 99921 Potential
Transmembrane1030 – 105021 Potential
Transmembrane1066 – 108621 Potential
Transmembrane1096 – 111621 Potential
Transmembrane1121 – 114121 Potential
Transmembrane1157 – 117721 Potential
Domain480 – 675196ABC transporter 1
Domain1245 – 1478234ABC transporter 2
Nucleotide binding516 – 5238ATP 1 Potential
Nucleotide binding1283 – 12908ATP 2 Potential

Amino acid modifications

Glycosylation841N-linked (GlcNAc...) Potential
Glycosylation2431N-linked (GlcNAc...) Potential
Glycosylation4841N-linked (GlcNAc...) Potential
Glycosylation5551N-linked (GlcNAc...) Potential
Glycosylation9081N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence267 – 15811315Missing in isoform 2.
VSP_020703
Natural variant2561T → A: dbSNP rs16973446.
VAR_027590
Natural variant3311G → S: dbSNP rs4147979.
VAR_027591
Natural variant4891Y → F: dbSNP rs12150510.
VAR_027592
Natural variant6801C → G: dbSNP rs16973424.
VAR_027593

Hide | Top

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 3, 2006. Version 3.
Checksum: 8BEB6F74B4130ACA

FASTA1,581179,245
        10         20         30         40         50         60 
MRKRKISVCQ QTWALLCKNF LKKWRMKRES LMEWLNSLLL LLCLYIYPHS HQVNDFSSLL 

        70         80         90        100        110        120 
TMDLGRVDTF NESRFSVVYT PVTNTTQQIM NKVASTPFLA GKEVLGLPDE ESIKEFTANY 

       130        140        150        160        170        180 
PEEIVRVTFT NTYSYHLKFL LGHGMPAKKE HKDHTAHCYE TNEDVYCEVS VFWKEGFVAL 

       190        200        210        220        230        240 
QAAINAAIIE ITTNHSVMEE LMSVTGKNMK MHSFIGQSGV ITDLYLFSCI ISFSSFIYYA 

       250        260        270        280        290        300 
SVNVTRERKR MKALMTMMGL RDSAFWLSWG LLYAGFIFIM ALFLALVIRS TQFIILSGFM 

       310        320        330        340        350        360 
VVFSLFLLYG LSLVALAFLM SILVKKSFLT GLVVFLLTVF WGCLGFTSLY RHLPASLEWI 

       370        380        390        400        410        420 
LSLLSPFAFM LGMAQLLHLD YDLNSNAFPH PSDGSNLIVA TNFMLAFDTC LYLALAIYFE 

       430        440        450        460        470        480 
KILPNEYGHR RPPLFFLKSS FWSQTQKTDH VALEDEMDAD PSFHDSFEQA PPEFQGKEAI 

       490        500        510        520        530        540 
RIRNVTKEYK GKPDKIEALK DLVFDIYEGQ ITAILGHSGA GKSTLLNILS GLSVPTKGSV 

       550        560        570        580        590        600 
TIYNNKLSEM ADLENLSKLT GVCPQSNVQF DFLTVRENLR LFAKIKGILP QEVDKEIFLL 

       610        620        630        640        650        660 
DEPTAGLDPF SRHQVWNLLK ERKTDRVILF STQFMDEADI LADRKVFLSQ GKLKCAGSSL 

       670        680        690        700        710        720 
FLKKKWGIGY HLSLQLNEIC VEENITSLVK QHIPDAKLSA KSEGKLIYTL PLERTNKFPE 

       730        740        750        760        770        780 
LYKDLDSYPD LGIENYGVSM TTLNEVFLKL EGKSTINESD IAILGEVQAE KADDTERLVE 

       790        800        810        820        830        840 
MEQVLSSLNK MRKTIGGVAL WRQQICAIAR VRLLKLKHER KALLALLLIL MAGFCPLLVE 

       850        860        870        880        890        900 
YTMVKIYQNS YTWELSPHLY FLAPGQQPHD PLTQLLIINK TGASIDDFIQ SVEHQNIALE 

       910        920        930        940        950        960 
VDAFGTRNGT DDPSYNGAIT VCCNEKNYSF SLACNAKRLN CFPVLMDIVS NGLLGMVKPS 

       970        980        990       1000       1010       1020 
VHIRTERSTF LENGQDNPIG FLAYIMFWLV LTSSCPPYIA MSSIDDYKNR ARSQLRISGL 

      1030       1040       1050       1060       1070       1080 
SPSAYWFGQA LVDVSLYFLV FVFIYLMSYI SNFEDMLLTI IHIIQIPCAV GYSFSLIFMT 

      1090       1100       1110       1120       1130       1140 
YVISFIFRKG RKNSGIWSFC FYVVTVFSVA GFAFSIFESD IPFIFTFLIP PATMIGCLFL 

      1150       1160       1170       1180       1190       1200 
SSHLLFSSLF SEERMDVQPF LVFLIPFLHF IIFLFTLRCL EWKFGKKSMR KDPFFRISPR 

      1210       1220       1230       1240       1250       1260 
SSDVCQNPEE PEGEDEDVQM ERVRTANALN STNFDEKPVI IASCLRKEYA GKRKGCFSKR 

      1270       1280       1290       1300       1310       1320 
KNKIATRNVS FCVRKGEVLG LLGHNGAGKS TSIKVITGDT KPTAGQVLLK GSGGGDALEF 

      1330       1340       1350       1360       1370       1380 
LGYCPQENAL WPNLTVRQHL EVYAAVKGLR KGDAEVAITR LVDALKLQDQ LKSPVKTLSE 

      1390       1400       1410       1420       1430       1440 
GIKRKLCFVL SILGNPSVVL LDEPSTGMDP EGQQQMWQAI RATFRNTERG ALLTTHYMAE 

      1450       1460       1470       1480       1490       1500 
AEAVCDRVAI MVSGRLRCIG SIQHLKSKFG KDYLLEMKVK NLAQVEPLHA EILRLFPQAA 

      1510       1520       1530       1540       1550       1560 
RQERYSSLMV YKLPVEDVQP LAQAFFKLEK VKQSFDLEEY SLSQSTLEQV FLELSKEQEL 

      1570       1580 
GDFEEDFDPS VKWKLLPQEE P

« Hide

Isoform 2 [UniParc].

Checksum: 45A0B73CEDC97079
Show »

26630,788

Hide | Top

References

« Hide 'large scale' references
[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: 10048485] [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]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[4]"Functional analysis of ABCA8, a new drug transporter."
Tsuruoka S., Ishibashi K., Yamamoto H., Wakaumi M., Suzuki M., Schwartz G.J., Imai M., Fujimura A.
Biochem. Biophys. Res. Commun. 298:41-45(2002) [PubMed: 12379217] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
[5]"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: 12111378] [Abstract]
Cited for: VARIANT SER-331.

Hide | Top

Cross-references

Sequence databases

AB020629 mRNA. Translation: BAA74845.2. Different initiation.
BC024003 mRNA. Translation: AAH24003.1.
BC047765 mRNA. Translation: AAH47765.1.
BC094689 mRNA. Translation: AAH94689.1.
RefSeqNP_009099.1.
UniGeneHs.58351

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteO94911.

Genome annotation databases

EnsemblENSG00000141338. Homo sapiens. [Contig view]
GeneID10351.
KEGGhsa:10351.

Organism-specific databases

HGNCHGNC:38. ABCA8.
PharmGKBPA24383.
HUGESearch...
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENO94911.

Gene expression databases

ArrayExpressO94911.
CleanExHS_ABCA8.
GermOnlineENSG00000141338. Homo sapiens.

Family and domain databases

InterProIPR003593. AAA+_ATPase_core.
IPR003439. ABC_transporter-like.
[Graphical view]
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
ProDomPD000006. ABC_transporter. 2 hits.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
PROSITEPS00211. ABC_TRANSPORTER_1. False negative.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio39251.

Hide | Top

Entry information

Entry nameABCA8_HUMAN
AccessionPrimary (citable) accession number: O94911
Secondary accession number(s): Q86WW0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: November 25, 2008
This is version 58 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents