ABCA8 (ATP binding cassette subfamily A member 8)

Gene

• Entrez ID: 10351
• Gene name: ATP binding cassette subfamily A member 8
• Gene symbol: ABCA8
• Synonyms: -
• Chromosome: 17
• Chromosome location: 17q24.2
• Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004151	hsa-miR-192-5p	Microarray	16822819
MIRT017399	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005319	Function	Lipid transporter activity	IBA	21873635
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	28882873
GO:0005886	Component	Plasma membrane	IDA	28882873
GO:0005886	Component	Plasma membrane	TAS
GO:0006686	Process	Sphingomyelin biosynthetic process	IMP	23560799
GO:0006869	Process	Lipid transport	IBA	21873635
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	12379217
GO:0010874	Process	Regulation of cholesterol efflux	IMP	28882873
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	23560799
GO:0016021	Component	Integral component of membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0030301	Process	Cholesterol transport	ISS
GO:0033344	Process	Cholesterol efflux	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	12379217
GO:0042908	Process	Xenobiotic transport	IMP	12379217
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0140359	Function	ABC-type transporter activity	ISS

Other IDs

• MIM: 612505
• HGNC: 38
• e!Ensembl: ENSG00000141338

Protein

• UniProt ID: O94911
• Protein name: ABC-type organic anion transporter ABCA8 (EC 7.6.2.-) (ATP-binding cassette sub-family A member 8)
• Protein function: [Isoform 1]: Catalyzes the import of organic anions such as taurocholate and estrone sulfate in an ATP-dependent manner (PubMed:12379217). In vitro, also imports ochratoxin A (PubMed:12379217). In addition mediates the cholesterol efflux in an apolipoprotein independent manner an plays a role in sphingomyelin production in oligodendrocytes (PubMed:23560799). ; [Isoform 3]: Catalyzes the cholesterol and taurocholate efflux in an ATP-dependent manner (PubMed:29300488). Through the interaction with ABCA1 potentiates the cholesterol efflux to lipid-free APOA1, in turn regulates high-density lipoprotein cholesterol levels (PubMed:28882873).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12698	ABC2_membrane_3	28 → 418		Family
  PF00005	ABC_tran	499 → 654	ABC transporter	Domain
  PF12698	ABC2_membrane_3	869 → 1177		Family
  PF00005	ABC_tran	1266 → 1406	ABC transporter	Domain

• Sequence:

  MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLL
  TMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANY
  PEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVAL
  QAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYA
  SVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIMALFLALVIRSTQFIILSGFM
  VVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLYRHLPASLEWI
  LSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFE
  KILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAI
  RIRNVTKEYKGKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSV
  TIYNNKLSEMADLENLSKLTGVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIQRV
  LLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQIFLLDEPTAGLDPFSRHQVWNLLK
  ERKTDRVILFSTQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEIC
  VEENITSLVKQHIPDAKLSAKSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSM
  TTLNEVFLKLEGKSTINESDIAILGEVQAEKADDTERLVEMEQVLSSLNKMRKTIGGVAL
  WRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVEYTMVKIYQNSYTWELSPHLY
  FLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGTDDPSYNGAIT
  VCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIG
  FLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLV
  FVFIYLMSYISNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFC
  FYVVTVFSVAGFAFSIFESDIPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPF
  LVFLIPFLHFIIFLFTLRCLEWKFGKKSMRKDPFFRISPRSSDVCQNPEEPEGEDEDVQM
  ERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKRKNKIATRNVSFCVRKGEVLG
  LLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENALWPNLTVRQHL
  EVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVL
  LDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIG
  SIQHLKSKFGKDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQP
  LAQAFFKLEKVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEE
  P

• Sequence length: 1621