Seroatlas · Human Serome Atlas

ABCA6

ATP-binding cassette sub-family A member 6

Also known as: ABCA6_HUMAN, EST155051

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

Protein identityUniProt · HPA

UniProt accession: Q8N139
Gene: ABCA6
Ensembl: ENSG00000154262
Chromosome: 17
Canonical length: 1617 aa
Protein class: 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 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1617 residues, UniProt reviewed canonical sequence.

>Q8N139|ABCA6
     1  MNMKQKSVYQ QTKALLCKNF LKKWRMKRES LLEWGLSILL GLCIALFSSS MRNVQFPGMA
    61  PQNLGRVDKF NSSSLMVVYT PISNLTQQIM NKTALAPLLK GTSVIGAPNK THMDEILLEN
   121  LPYAMGIIFN ETFSYKLIFF QGYNSPLWKE DFSAHCWDGY GEFSCTLTKY WNRGFVALQT
   181  AINTAIIEIT TNHPVMEELM SVTAITMKTL PFITKNLLHN EMFILFFLLH FSPLVYFISL
   241  NVTKERKKSK NLMKMMGLQD SAFWLSWGLI YAGFIFIISI FVTIIITFTQ IIVMTGFMVI
   301  FILFFLYGLS LVALVFLMSV LLKKAVLTNL VVFLLTLFWG CLGFTVFYEQ LPSSLEWILN
   361  ICSPFAFTTG MIQIIKLDYN LNGVIFPDPS GDSYTMIATF SMLLLDGLIY LLLALYFDKI
   421  LPYGDERHYS PLFFLNSSSC FQHQRTNAKV IEKEIDAEHP SDDYFEPVAP EFQGKEAIRI
   481  RNVKKEYKGK SGKVEALKGL LFDIYEGQIT AILGHSGAGK SSLLNILNGL SVPTEGSVTI
   541  YNKNLSEMQD LEEIRKITGV CPQFNVQFDI LTVKENLSLF AKIKGIHLKE VEQEVQRILL
   601  ELDMQNIQDN LAKHLSEGQK RKLTFGITIL GDPQILLLDE PTTGLDPFSR DQVWSLLRER
   661  RADHVILFST QSMDEADILA DRKVIMSNGR LKCAGSSMFL KRRWGLGYHL SLHRNEICNP
   721  EQITSFITHH IPDAKLKTEN KEKLVYTLPL ERTNTFPDLF SDLDKCSDQG VTGYDISMST
   781  LNEVFMKLEG QSTIEQDFEQ VEMIRDSESL NEMELAHSSF SEMQTAVSDM GLWRMQVFAM
   841  ARLRFLKLKR QTKVLLTLLL VFGIAIFPLI VENIMYAMLN EKIDWEFKNE LYFLSPGQLP
   901  QEPRTSLLII NNTESNIEDF IKSLKHQNIL LEVDDFENRN GTDGLSYNGA IIVSGKQKDY
   961  RFSVVCNTKR LHCFPILMNI ISNGLLQMFN HTQHIRIESS PFPLSHIGLW TGLPDGSFFL
  1021  FLVLCSISPY ITMGSISDYK KNAKSQLWIS GLYTSAYWCG QALVDVSFFI LILLLMYLIF
  1081  YIENMQYLLI TSQIVFALVI VTPGYAASLV FFIYMISFIF RKRRKNSGLW SFYFFFASTI
  1141  MFSITLINHF DLSILITTMV LVPSYTLLGF KTFLEVRDQE HYREFPEANF ELSATDFLVC
  1201  FIPYFQTLLF VFVLRCMELK CGKKRMRKDP VFRISPQSRD AKPNPEEPID EDEDIQTERI
  1261  RTATALTTSI LDEKPVIIAS CLHKEYAGQK KSCFSKRKKK IAARNISFCV QEGEILGLLG
  1321  PNGAGKSSSI RMISGITKPT AGEVELKGCS SVLGHLGYCP QENVLWPMLT LREHLEVYAA
  1381  VKGLRKADAR LAIARLVSAF KLHEQLNVPV QKLTAGITRK LCFVLSLLGN SPVLLLDEPS
  1441  TGIDPTGQQQ MWQAIQAVVK NTERGVLLTT HNLAEAEALC DRVAIMVSGR LRCIGSIQHL
  1501  KNKLGKDYIL ELKVKETSQV TLVHTEILKL FPQAAGQERY SSLLTYKLPV ADVYPLSQTF
  1561  HKLEAVKHNF NLEEYSLSQC TLEKVFLELS KEQEVGNFDE EIDTTMRWKL LPHSDEP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCA6 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: Other membrane
Secreted: No
Transmembrane segments: 14
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 73 nTPM

Expression across tissuesHPA

Tissue

liver: 73 nTPM
ovary: 24 nTPM
adipose tissue: 22 nTPM
heart muscle: 17 nTPM
breast: 15 nTPM
urinary bladder: 13 nTPM

Single-cell type

fibro-adipogenic progenitors: 1,198 nCPM
fibroblasts: 429 nCPM
pituicytes/fscs: 338 nCPM
hepatocytes: 238 nCPM
leydig cells: 235 nCPM
ovarian stromal cells: 217 nCPM

Immune cell

classical monocyte: 0.1 nTPM
myeloid DC: 0.1 nTPM
plasmacytoid DC: 0.1 nTPM
basophil: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

white matter: 48 nTPM
medulla oblongata: 35 nTPM
spinal cord: 20 nTPM
pons: 20 nTPM
basal ganglia: 16 nTPM
cerebellum: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCA6.

Disease | ImmuneIEDB

Conditions an epitope on ABCA6 was assayed in.

chronic lymphocytic leukemia T cell

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): 0.86
gnomAD pLI: 0
gnomAD missense Z: -0.49
DepMap mean gene effect: 0.03
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

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ABCA6 as an antibody target. Whether an autoantibody or antibody against ABCA6 could matter depends on whether native ABCA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABCA6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ABCA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...