O94911 (ABCA8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family A member 8

Gene names

Name:	ABCA8
Synonyms:	KIAA0822

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1581 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	ATP-dependent lipophilic drug transporter. Ref.4
Subcellular location	Cell membrane; Multi-pass membrane protein Probable.
Tissue specificity	Widely expressed with higher expression in heart, skeletal muscle and liver. Ref.4
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.4 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.

Ontologies

Keywords
Biological process	Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Inferred from electronic annotation. Source: Compara plasma membrane Traceable author statement. Source: Reactome
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity, coupled to transmembrane movement of substances Inferred from direct assay Ref.4. Source: MGI
Complete GO annotation...

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.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1581	1581	ATP-binding cassette sub-family A member 8		PRO_0000250677
Regions
	Transmembrane	30 – 50	21	Helical; Potential
	Transmembrane	220 – 240	21	Helical; Potential
	Transmembrane	268 – 288	21	Helical; Potential
	Transmembrane	299 – 319	21	Helical; Potential
	Transmembrane	327 – 347	21	Helical; Potential
	Transmembrane	359 – 379	21	Helical; Potential
	Transmembrane	397 – 417	21	Helical; Potential
	Transmembrane	824 – 844	21	Helical; Potential
	Transmembrane	979 – 999	21	Helical; Potential
	Transmembrane	1030 – 1050	21	Helical; Potential
	Transmembrane	1066 – 1086	21	Helical; Potential
	Transmembrane	1096 – 1116	21	Helical; Potential
	Transmembrane	1121 – 1141	21	Helical; Potential
	Transmembrane	1157 – 1177	21	Helical; Potential
	Domain	480 – 675	196	ABC transporter 1
	Domain	1245 – 1478	234	ABC transporter 2
	Nucleotide binding	516 – 523	8	ATP 1 Potential
	Nucleotide binding	1283 – 1290	8	ATP 2 Potential
Amino acid modifications
	Glycosylation	84	1	N-linked (GlcNAc...) Ref.5
	Glycosylation	243	1	N-linked (GlcNAc...) Potential
	Glycosylation	484	1	N-linked (GlcNAc...) Potential
	Glycosylation	555	1	N-linked (GlcNAc...) Potential
	Glycosylation	908	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	267 – 1581	1315	Missing in isoform 2.		VSP_020703
	Natural variant	256	1	T → A. Corresponds to variant rs16973446 [ dbSNP | Ensembl ].		VAR_027590
	Natural variant	331	1	G → S. Ref.6 Corresponds to variant rs4147979 [ dbSNP | Ensembl ].		VAR_027591
	Natural variant	416	1	A → V. Corresponds to variant rs35621847 [ dbSNP | Ensembl ].		VAR_048130
	Natural variant	489	1	Y → F. Corresponds to variant rs12150510 [ dbSNP | Ensembl ].		VAR_027592
	Natural variant	619	1	L → R. Corresponds to variant rs35844316 [ dbSNP | Ensembl ].		VAR_048131
	Natural variant	680	1	C → G. Corresponds to variant rs16973424 [ dbSNP | Ensembl ].		VAR_027593
	Natural variant	1430	1	G → S. Corresponds to variant rs35403175 [ dbSNP | Ensembl ].		VAR_048132

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 3, 2006. Version 3. Checksum: 8BEB6F74B4130ACA	FASTA	1,581	179,245
	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
	Isoform 2 [UniParc]. Checksum: 45A0B73CEDC97079	FASTA	266	30,788
	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 SVNVTRERKR MKALMTMMGL RDSAFW

References

	« Hide 'large scale' referencesShow '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]	"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] (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] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, BIOPHYSICOCHEMICAL PROPERTIES.
[5]	"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, MASS SPECTROMETRY. Tissue: Liver.
[6]	"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. BC024003 mRNA. Translation: AAH24003.1. BC047765 mRNA. Translation: AAH47765.1. BC094689 mRNA. Translation: AAH94689.1.
IPI	IPI00479296. IPI00788074.
RefSeq	NP_009099.1. NM_007168.2.
UniGene	Hs.58351.
3D structure databases
ProteinModelPortal	O94911.
SMR	O94911. Positions 480-660, 1238-1468.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000269080.
Protein family/group databases
TCDB	3.A.1.211.6. ATP-binding cassette (ABC) superfamily.
PTM databases
PhosphoSite	O94911.
Proteomic databases
PaxDb	O94911.
PRIDE	O94911.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000269080; ENSP00000269080; ENSG00000141338.
GeneID	10351.
KEGG	hsa:10351.
UCSC	uc002jhp.3. human. uc002jhs.3. human.
Organism-specific databases
CTD	10351.
GeneCards	GC17M066863.
H-InvDB	HIX0014119. HIX0173681.
HGNC	HGNC:38. ABCA8.
HPA	HPA044914.
MIM	612505. gene.
neXtProt	NX_O94911.
PharmGKB	PA24383.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOVERGEN	HBG079884.
InParanoid	O94911.
KO	K05650.
OrthoDB	EOG40P45W.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	O94911.
Bgee	O94911.
CleanEx	HS_ABCA8.
Genevestigator	O94911.
GermOnline	ENSG00000141338. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR026082. ABC_A. IPR003439. ABC_transporter-like. [Graphical view]
PANTHER	PTHR19229. PTHR19229. 1 hit.
Pfam	PF00005. ABC_tran. 2 hits. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS00211. ABC_TRANSPORTER_1. False negative. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ABCA8. human.
GenomeRNAi	10351.
NextBio	39251.
SOURCE	Search...

Entry information

Entry name

ABCA8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 101 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.