ABCA5

Protein identityUniProt · HPA

UniProt accession

Q8WWZ7

Gene

ABCA5

Ensembl

ENSG00000154265

Chromosome

17

Canonical length

1642 aa

Protein class

Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm

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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1642 residues, UniProt reviewed canonical sequence.

>Q8WWZ7|ABCA5
     1  MSTAIREVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILIS MMHPNKKYEE
    61  VPNIELNPMD KFTLSNLILG YTPVTNITSS IMQKVSTDHL PDVIITEEYT NEKEMLTSSL
   121  SKPSNFVGVV FKDSMSYELR FFPDMIPVSS IYMDSRAGCS KSCEAAQYWS SGFTVLQASI
   181  DAAIIQLKTN VSLWKELEST KAVIMGETAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI
   241  VAEKEKKIKE FLKIMGLHDT AFWLSWVLLY TSLIFLMSLL MAVIATASLL FPQSSSIVIF
   301  LLFFLYGLSS VFFALMLTPL FKKSKHVGIV EFFVTVAFGF IGLMIILIES FPKSLVWLFS
   361  PFCHCTFVIG IAQVMHLEDF NEGASFSNLT AGPYPLIITI IMLTLNSIFY VLLAVYLDQV
   421  IPGEFGLRRS SLYFLKPSYW SKSKRNYEEL SEGNVNGNIS FSEIIEPVSS EFVGKEAIRI
   481  SGIQKTYRKK GENVEALRNL SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI
   541  YGHRVSEIDE MFEARKMIGI CPQLDIHFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL
   601  DLDMQTIKDN QAKKLSGGQK RKLSLGIAVL GNPKILLLDE PTAGMDPCSR HIVWNLLKYR
   661  KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSMFL KSKWGIGYRL SMYIDKYCAT
   721  ESLSSLVKQH IPGATLLQQN DQQLVYSLPF KDMDKFSGLF SALDSHSNLG VISYGVSMTT
   781  LEDVFLKLEV EAEIDQADYS VFTQQPLEEE MDSKSFDEME QSLLILSETK AALVSTMSLW
   841  KQQMYTIAKF HFFTLKRESK SVRSVLLLLL IFFTVQIFMF LVHHSFKNAV VPIKLVPDLY
   901  FLKPGDKPHK YKTSLLLQNS ADSDISDLIS FFTSQNIMVT MINDSDYVSV APHSAALNVM
   961  HSEKDYVFAA VFNSTMVYSL PILVNIISNY YLYHLNVTET IQIWSTPFFQ EITDIVFKIE
  1021  LYFQAALLGI IVTAMPPYFA MENAENHKIK AYTQLKLSGL LPSAYWIGQA VVDIPLFFII
  1081  LILMLGSLLA FHYGLYFYTV KFLAVVFCLI GYVPSVILFT YIASFTFKKI LNTKEFWSFI
  1141  YSVAALACIA ITEITFFMGY TIATILHYAF CIIIPIYPLL GCLISFIKIS WKNVRKNVDT
  1201  YNPWDRLSVA VISPYLQCVL WIFLLQYYEK KYGGRSIRKD PFFRNLSTKS KNRKLPEPPD
  1261  NEDEDEDVKA ERLKVKELMG CQCCEEKPSI MVSNLHKEYD DKKDFLLSRK VKKVATKYIS
  1321  FCVKKGEILG LLGPNGAGKS TIINILVGDI EPTSGQVFLG DYSSETSEDD DSLKCMGYCP
  1381  QINPLWPDTT LQEHFEIYGA VKGMSASDMK EVISRITHAL DLKEHLQKTV KKLPAGIKRK
  1441  LCFALSMLGN PQITLLDEPS TGMDPKAKQH MWRAIRTAFK NRKRAAILTT HYMEEAEAVC
  1501  DRVAIMVSGQ LRCIGTVQHL KSKFGKGYFL EIKLKDWIEN LEVDRLQREI QYIFPNASRQ
  1561  ESFSSILAYK IPKEDVQSLS QSFFKLEEAK HAFAIEEYSF SQATLEQVFV ELTKEQEEED
  1621  NSCGTLNSTL WWERTQEDRV VF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCA5 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

15

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

30 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCA5.

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 300 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Gingival fibromatosis-hypertrichosis syndrome
• See cases
• 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)

0.84

gnomAD pLI

0

gnomAD missense Z

0.37

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cholesterol efflux
• cholesterol homeostasis
• cholesterol metabolic process
• high-density lipoprotein particle remodeling
• lipid transport
• negative regulation of macrophage derived foam cell differentiation
• positive regulation of reverse cholesterol transport
• regulation of cholesterol efflux
• reverse cholesterol transport

Molecular functions

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

Cellular components

• Golgi membrane
• late endosome
• late endosome membrane
• lysosomal membrane
• lysosome
• 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
• Endosome
• Glycoprotein
• Golgi apparatus
• Lipid transport
• Lysosome
• Membrane
• Nucleotide-binding
• Repeat
• Translocase
• Transmembrane
• Transmembrane helix
• Transport