Seroatlas · Human Serome Atlas

ABCC6

ATP-binding cassette sub-family C member 6

Also known as: ARA, EST349056, MLP1, MRP6, MRP6_HUMAN, PXE, URG7

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

Protein identityUniProt · HPA

UniProt accession: O95255
Gene: ABCC6
Ensembl: ENSG00000091262
Chromosome: 16
Canonical length: 1503 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Plasma membrane

OverviewNCBI Gene

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1503 residues, UniProt reviewed canonical sequence.

>O95255|ABCC6
     1  MAAPAEPCAG QGVWNQTEPE PAATSLLSLC FLRTAGVWVP PMYLWVLGPI YLLFIHHHGR
    61  GYLRMSPLFK AKMVLGFALI VLCTSSVAVA LWKIQQGTPE APEFLIHPTV WLTTMSFAVF
   121  LIHTERKKGV QSSGVLFGYW LLCFVLPATN AAQQASGAGF QSDPVRHLST YLCLSLVVAQ
   181  FVLSCLADQP PFFPEDPQQS NPCPETGAAF PSKATFWWVS GLVWRGYRRP LRPKDLWSLG
   241  RENSSEELVS RLEKEWMRNR SAARRHNKAI AFKRKGGSGM KAPETEPFLR QEGSQWRPLL
   301  KAIWQVFHST FLLGTLSLII SDVFRFTVPK LLSLFLEFIG DPKPPAWKGY LLAVLMFLSA
   361  CLQTLFEQQN MYRLKVLQMR LRSAITGLVY RKVLALSSGS RKASAVGDVV NLVSVDVQRL
   421  TESVLYLNGL WLPLVWIVVC FVYLWQLLGP SALTAIAVFL SLLPLNFFIS KKRNHHQEEQ
   481  MRQKDSRARL TSSILRNSKT IKFHGWEGAF LDRVLGIRGQ ELGALRTSGL LFSVSLVSFQ
   541  VSTFLVALVV FAVHTLVAEN AMNAEKAFVT LTVLNILNKA QAFLPFSIHS LVQARVSFDR
   601  LVTFLCLEEV DPGVVDSSSS GSAAGKDCIT IHSATFAWSQ ESPPCLHRIN LTVPQGCLLA
   661  VVGPVGAGKS SLLSALLGEL SKVEGFVSIE GAVAYVPQEA WVQNTSVVEN VCFGQELDPP
   721  WLERVLEACA LQPDVDSFPE GIHTSIGEQG MNLSGGQKQR LSLARAVYRK AAVYLLDDPL
   781  AALDAHVGQH VFNQVIGPGG LLQGTTRILV THALHILPQA DWIIVLANGA IAEMGSYQEL
   841  LQRKGALMCL LDQARQPGDR GEGETEPGTS TKDPRGTSAG RRPELRRERS IKSVPEKDRT
   901  TSEAQTEVPL DDPDRAGWPA GKDSIQYGRV KATVHLAYLR AVGTPLCLYA LFLFLCQQVA
   961  SFCRGYWLSL WADDPAVGGQ QTQAALRGGI FGLLGCLQAI GLFASMAAVL LGGARASRLL
  1021  FQRLLWDVVR SPISFFERTP IGHLLNRFSK ETDTVDVDIP DKLRSLLMYA FGLLEVSLVV
  1081  AVATPLATVA ILPLFLLYAG FQSLYVVSSC QLRRLESASY SSVCSHMAET FQGSTVVRAF
  1141  RTQAPFVAQN NARVDESQRI SFPRLVADRW LAANVELLGN GLVFAAATCA VLSKAHLSAG
  1201  LVGFSVSAAL QVTQTLQWVV RNWTDLENSI VSVERMQDYA WTPKEAPWRL PTCAAQPPWP
  1261  QGGQIEFRDF GLRYRPELPL AVQGVSFKIH AGEKVGIVGR TGAGKSSLAS GLLRLQEAAE
  1321  GGIWIDGVPI AHVGLHTLRS RISIIPQDPI LFPGSLRMNL DLLQEHSDEA IWAALETVQL
  1381  KALVASLPGQ LQYKCADRGE DLSVGQKQLL CLARALLRKT QILILDEATA AVDPGTELQM
  1441  QAMLGSWFAQ CTVLLIAHRL RSVMDCARVL VMDKGQVAES GSPAQLLAQK GLFYRLAQES
  1501  GLV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCC6 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: 17
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 82 nTPM

Expression across tissuesHPA

Tissue

liver: 82 nTPM
kidney: 22 nTPM
duodenum: 14 nTPM
pancreas: 14 nTPM
salivary gland: 11 nTPM
small intestine: 8 nTPM

Single-cell type

proximal tubule cells: 143 nCPM
distal convoluted tubule cells: 20 nCPM
loop of henle epithelial cells: 13 nCPM
adipocytes: 10 nCPM
renal connecting tubule cells: 9.5 nCPM
ependymal cells: 8.7 nCPM

Immune cell

classical monocyte: 3.9 nTPM
neutrophil: 0.7 nTPM
total PBMC: 0.7 nTPM
intermediate monocyte: 0.6 nTPM
basophil: 0.5 nTPM
myeloid DC: 0.5 nTPM

Brain region

midbrain: 1.7 nTPM
choroid plexus: 1.5 nTPM
medulla oblongata: 1.5 nTPM
spinal cord: 1.3 nTPM
pons: 1.2 nTPM
thalamus: 1.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCC6.

Disease | AllUniProt

Conditions ABCC6 is implicated in, by any mechanism.

Pseudoxanthoma elasticum (PXE) MIM:264800
Arterial calcification of infancy, generalized, 2 (GACI2) MIM:614473

Disease | GeneticClinVar

299 pathogenic / likely-pathogenic of 1,821 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Pseudoxanthoma elasticum, forme fruste
ABCC6-related disorder
Retinal dystrophy

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): 1.03
gnomAD pLI: 0
gnomAD missense Z: -1.09
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ABCC6 as an antibody target. Whether an autoantibody or antibody against ABCC6 could matter depends on whether native ABCC6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABCC6 is annotated at the cell surface, where native ABCC6 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 ABCC6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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