Seroatlas · Human Serome Atlas

ABCA9

ATP-binding cassette sub-family A member 9

Also known as: ABCA9_HUMAN, EST640918

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8IUA7
Gene: ABCA9
Ensembl: ENSG00000154258
Chromosome: 17
Canonical length: 1624 aa
Protein class: Predicted membrane proteins, Transporters
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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 gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1624 residues, UniProt reviewed canonical sequence.

>Q8IUA7|ABCA9
     1  MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
    61  SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
   121  YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
   181  FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
   241  VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
   301  VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
   361  TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
   421  DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
   481  IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
   541  VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
   601  VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
   661  KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
   721  CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
   781  ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
   841  LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
   901  YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
   961  IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
  1021  GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
  1081  ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS
  1141  FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE
  1201  IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED
  1261  IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKKIATR NVSFCVKKGE
  1321  VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR
  1381  QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS
  1441  VVLLDEPSTG MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR
  1501  CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS LMVYKLPVED
  1561  VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE QELGDLEEDF DPSVKWKLLL
  1621  QEEP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCA9 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: 32 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 32 nTPM
ovary: 26 nTPM
heart muscle: 22 nTPM
breast: 22 nTPM
fallopian tube: 19 nTPM
blood vessel: 15 nTPM

Single-cell type

fibro-adipogenic progenitors: 1,226 nCPM
fibroblasts: 488 nCPM
leydig cells: 420 nCPM
myosatellite cells: 140 nCPM
pituicytes/fscs: 130 nCPM
adipocytes: 123 nCPM

Immune cell

basophil: 0.4 nTPM
eosinophil: 0.2 nTPM
neutrophil: 0.2 nTPM
gdT-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM
myeloid DC: 0.1 nTPM

Brain region

white matter: 39 nTPM
cerebral cortex: 39 nTPM
choroid plexus: 38 nTPM
cerebellum: 37 nTPM
basal ganglia: 33 nTPM
medulla oblongata: 32 nTPM

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): 1.07
gnomAD pLI: 0
gnomAD missense Z: 0.75
DepMap mean gene effect: 0.04
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

lipid transport

Molecular functions

Cellular components

plasma membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ABCA9 as an antibody target. Whether an autoantibody or antibody against ABCA9 could matter depends on whether native ABCA9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABCA9 is annotated at the cell surface, where native ABCA9 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ABCA9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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