ABCA8

Protein identityUniProt · HPA

UniProt accession

O94911

Gene

ABCA8

Ensembl

ENSG00000141338

Chromosome

17

Canonical length

1621 aa

Protein class

Metabolic proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1621 residues, UniProt reviewed canonical sequence.

>O94911|ABCA8
     1  MRKRKISVCQ QTWALLCKNF LKKWRMKRES LMEWLNSLLL LLCLYIYPHS HQVNDFSSLL
    61  TMDLGRVDTF NESRFSVVYT PVTNTTQQIM NKVASTPFLA GKEVLGLPDE ESIKEFTANY
   121  PEEIVRVTFT NTYSYHLKFL LGHGMPAKKE HKDHTAHCYE TNEDVYCEVS VFWKEGFVAL
   181  QAAINAAIIE ITTNHSVMEE LMSVTGKNMK MHSFIGQSGV ITDLYLFSCI ISFSSFIYYA
   241  SVNVTRERKR MKALMTMMGL RDSAFWLSWG LLYAGFIFIM ALFLALVIRS TQFIILSGFM
   301  VVFSLFLLYG LSLVALAFLM SILVKKSFLT GLVVFLLTVF WGCLGFTSLY RHLPASLEWI
   361  LSLLSPFAFM LGMAQLLHLD YDLNSNAFPH PSDGSNLIVA TNFMLAFDTC LYLALAIYFE
   421  KILPNEYGHR RPPLFFLKSS FWSQTQKTDH VALEDEMDAD PSFHDSFEQA PPEFQGKEAI
   481  RIRNVTKEYK GKPDKIEALK DLVFDIYEGQ ITAILGHSGA GKSTLLNILS GLSVPTKGSV
   541  TIYNNKLSEM ADLENLSKLT GVCPQSNVQF DFLTVRENLR LFAKIKGILP QEVDKEIQRV
   601  LLELEMKNIQ DVLAQNLSGG QKRKLTFGIA ILGDPQIFLL DEPTAGLDPF SRHQVWNLLK
   661  ERKTDRVILF STQFMDEADI LADRKVFLSQ GKLKCAGSSL FLKKKWGIGY HLSLQLNEIC
   721  VEENITSLVK QHIPDAKLSA KSEGKLIYTL PLERTNKFPE LYKDLDSYPD LGIENYGVSM
   781  TTLNEVFLKL EGKSTINESD IAILGEVQAE KADDTERLVE MEQVLSSLNK MRKTIGGVAL
   841  WRQQICAIAR VRLLKLKHER KALLALLLIL MAGFCPLLVE YTMVKIYQNS YTWELSPHLY
   901  FLAPGQQPHD PLTQLLIINK TGASIDDFIQ SVEHQNIALE VDAFGTRNGT DDPSYNGAIT
   961  VCCNEKNYSF SLACNAKRLN CFPVLMDIVS NGLLGMVKPS VHIRTERSTF LENGQDNPIG
  1021  FLAYIMFWLV LTSSCPPYIA MSSIDDYKNR ARSQLRISGL SPSAYWFGQA LVDVSLYFLV
  1081  FVFIYLMSYI SNFEDMLLTI IHIIQIPCAV GYSFSLIFMT YVISFIFRKG RKNSGIWSFC
  1141  FYVVTVFSVA GFAFSIFESD IPFIFTFLIP PATMIGCLFL SSHLLFSSLF SEERMDVQPF
  1201  LVFLIPFLHF IIFLFTLRCL EWKFGKKSMR KDPFFRISPR SSDVCQNPEE PEGEDEDVQM
  1261  ERVRTANALN STNFDEKPVI IASCLRKEYA GKRKGCFSKR KNKIATRNVS FCVRKGEVLG
  1321  LLGHNGAGKS TSIKVITGDT KPTAGQVLLK GSGGGDALEF LGYCPQENAL WPNLTVRQHL
  1381  EVYAAVKGLR KGDAEVAITR LVDALKLQDQ LKSPVKTLSE GIKRKLCFVL SILGNPSVVL
  1441  LDEPSTGMDP EGQQQMWQAI RATFRNTERG ALLTTHYMAE AEAVCDRVAI MVSGRLRCIG
  1501  SIQHLKSKFG KDYLLEMKVK NLAQVEPLHA EILRLFPQAA RQERYSSLMV YKLPVEDVQP
  1561  LAQAFFKLEK VKQSFDLEEY SLSQSTLEQV FLELSKEQEL GDFEEDFDPS VKWKLLPQEE
  1621  P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCA8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

14

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

42 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCA8.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 296 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypercholesterolemia, familial, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.19

gnomAD pLI

0

gnomAD missense Z

-0.19

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cholesterol efflux
• cholesterol transport
• lipid transport
• positive regulation of cholesterol efflux
• regulation of cholesterol efflux
• sphingomyelin biosynthetic process
• transmembrane transport
• xenobiotic transmembrane transport
• xenobiotic transport

Molecular functions

• ABC-type transporter activity
• ABC-type xenobiotic transporter activity
• ATP binding
• ATP hydrolysis activity
• ATPase-coupled transmembrane transporter activity
• lipid transporter activity

Cellular components

• basolateral plasma membrane
• endoplasmic reticulum
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• ABC transporter-like, ATP-binding domain
• AAA+ ATPase domain
• ABC-2 type transporter, transmembrane domain
• ABC transporter-like, conserved site
• ABC transporter A
• P-loop containing nucleoside triphosphate hydrolase
• ABCA1-4-like, C-terminal R2 regulatory domain
• ABC transporter
• ABC-2 family transporter protein
• ABCA1-like, C-terminal R1 regulatory domain

KeywordsUniProt

• ATP-binding
• Cell membrane
• Glycoprotein
• Lipid transport
• Membrane
• Nucleotide-binding
• Repeat
• Translocase
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ABCA8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ABCA1