Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O94911 (ABCA8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family A member 8
Gene names
Name:ABCA8
Synonyms:KIAA0822
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1581 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

ATP-dependent lipophilic drug transporter. Ref.5

Subcellular location

Cell membrane; Multi-pass membrane protein Probable.

Tissue specificity

Widely expressed with higher expression in heart, skeletal muscle and liver. Ref.5

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Biophysicochemical properties

Kinetic parameters:

KM=30.4 µM for estradiol-beta-glucuronide Ref.5

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

Sequence caution

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

Alternative products

This entry describes 3 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.
Note: No experimental confirmation available.
Isoform 3 (identifier: O94911-3)

The sequence of this isoform differs from the canonical sequence as follows:
     596-596: E → EIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

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

Regions

Transmembrane30 – 5021Helical; Potential
Transmembrane220 – 24021Helical; Potential
Transmembrane268 – 28821Helical; Potential
Transmembrane299 – 31921Helical; Potential
Transmembrane327 – 34721Helical; Potential
Transmembrane359 – 37921Helical; Potential
Transmembrane397 – 41721Helical; Potential
Transmembrane824 – 84421Helical; Potential
Transmembrane979 – 99921Helical; Potential
Transmembrane1030 – 105021Helical; Potential
Transmembrane1066 – 108621Helical; Potential
Transmembrane1096 – 111621Helical; Potential
Transmembrane1121 – 114121Helical; Potential
Transmembrane1157 – 117721Helical; 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...) Ref.6
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
Alternative sequence5961E → EIQRVLLELEMKNIQDVLAQ NLSGGQKRKLTFGIAILGDP Q in isoform 3.
VSP_053440
Natural variant2561T → A.
Corresponds to variant rs16973446 [ dbSNP | Ensembl ].
VAR_027590
Natural variant3311G → S. Ref.7
Corresponds to variant rs4147979 [ dbSNP | Ensembl ].
VAR_027591
Natural variant4161A → V. Ref.4
Corresponds to variant rs35621847 [ dbSNP | Ensembl ].
VAR_048130
Natural variant4891Y → F.
Corresponds to variant rs12150510 [ dbSNP | Ensembl ].
VAR_027592
Natural variant6191L → R.
Corresponds to variant rs35844316 [ dbSNP | Ensembl ].
VAR_048131
Natural variant6801C → G.
Corresponds to variant rs16973424 [ dbSNP | Ensembl ].
VAR_027593
Natural variant14301G → S.
Corresponds to variant rs35403175 [ dbSNP | Ensembl ].
VAR_048132

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 »

FASTA26630,788
Isoform 3 [UniParc].

Checksum: C50C8E2624BA4734
Show »

FASTA1,621183,677

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] [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. expand/collapse author list , 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]"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] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11680.1. [O94911-1]
RefSeqNP_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]
UniGeneHs.58351.

3D structure databases

ProteinModelPortalO94911.
SMRO94911. Positions 439-715, 1240-1480.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000269080.

Protein family/group databases

TCDB3.A.1.211.6. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteO94911.

Proteomic databases

PaxDbO94911.
PRIDEO94911.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269080; ENSP00000269080; ENSG00000141338. [O94911-1]
ENST00000430352; ENSP00000402814; ENSG00000141338. [O94911-3]
ENST00000586539; ENSP00000467271; ENSG00000141338. [O94911-3]
GeneID10351.
KEGGhsa:10351.
UCSCuc002jhp.3. human. [O94911-1]
uc002jhs.3. human. [O94911-2]

Organism-specific databases

CTD10351.
GeneCardsGC17M066863.
H-InvDBHIX0014119.
HIX0173681.
HGNCHGNC:38. ABCA8.
HPAHPA044914.
MIM612505. gene.
neXtProtNX_O94911.
PharmGKBPA24383.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOVERGENHBG079884.
InParanoidO94911.
KOK05650.
OMAVQFVILT.
OrthoDBEOG73Z2SB.
PhylomeDBO94911.
TreeFamTF105192.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.
SABIO-RKO94911.

Gene expression databases

ArrayExpressO94911.
BgeeO94911.
CleanExHS_ABCA8.
GenevestigatorO94911.

Family and domain databases

Gene3D3.40.50.300. 3 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCA8. human.
GeneWikiABCA8.
GenomeRNAi10351.
NextBio35460531.
PROO94911.
SOURCESearch...

Entry information

Entry nameABCA8_HUMAN
AccessionPrimary (citable) accession number: O94911
Secondary accession number(s): A1L3U3, C9JQE6, Q86WW0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: July 9, 2014
This is version 115 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

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