Seroatlas · Human Serome Atlas

ABCB6

ATP-binding cassette sub-family B member 6

Also known as: ABCB6_HUMAN, EST45597, MTABC3, umat

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

Protein identityUniProt · HPA

UniProt accession
Q9NP58
Gene
ABCB6
Ensembl
ENSG00000115657
Chromosome
2
Canonical length
842 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Golgi apparatus,Plasma membrane,Mitochondria,Cytosol,Mid piece,Principal piece
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

842 residues, UniProt reviewed canonical sequence.

>Q9NP58|ABCB6
     1  MVTVGNYCEA EGPVGPAWMQ DGLSPCFFFT LVPSTRMALG TLALVLALPC RRRERPAGAD
    61  SLSWGAGPRI SPYVLQLLLA TLQAALPLAG LAGRVGTARG APLPSYLLLA SVLESLAGAC
   121  GLWLLVVERS QARQRLAMGI WIKFRHSPGL LLLWTVAFAA ENLALVSWNS PQWWWARADL
   181  GQQVQFSLWV LRYVVSGGLF VLGLWAPGLR PQSYTLQVHE EDQDVERSQV RSAAQQSTWR
   241  DFGRKLRLLS GYLWPRGSPA LQLVVLICLG LMGLERALNV LVPIFYRNIV NLLTEKAPWN
   301  SLAWTVTSYV FLKFLQGGGT GSTGFVSNLR TFLWIRVQQF TSRRVELLIF SHLHELSLRW
   361  HLGRRTGEVL RIADRGTSSV TGLLSYLVFN VIPTLADIII GIIYFSMFFN AWFGLIVFLC
   421  MSLYLTLTIV VTEWRTKFRR AMNTQENATR ARAVDSLLNF ETVKYYNAES YEVERYREAI
   481  IKYQGLEWKS SASLVLLNQT QNLVIGLGLL AGSLLCAYFV TEQKLQVGDY VLFGTYIIQL
   541  YMPLNWFGTY YRMIQTNFID MENMFDLLKE ETEVKDLPGA GPLRFQKGRI EFENVHFSYA
   601  DGRETLQDVS FTVMPGQTLA LVGPSGAGKS TILRLLFRFY DISSGCIRID GQDISQVTQA
   661  SLRSHIGVVP QDTVLFNDTI ADNIRYGRVT AGNDEVEAAA QAAGIHDAIM AFPEGYRTQV
   721  GERGLKLSGG EKQRVAIART ILKAPGIILL DEATSALDTS NERAIQASLA KVCANRTTIV
   781  VAHRLSTVVN ADQILVIKDG CIVERGRHEA LLSRGGVYAD MWQLQQGQEE TSEDTKPQTM
   841  ER

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCB6 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
11
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 27 nTPM
  • testis: 15 nTPM
  • urinary bladder: 14 nTPM
  • liver: 13 nTPM
  • ovary: 12 nTPM
  • esophagus: 9.9 nTPM

Single-cell type

  • other brain neurons: 21 nCPM
  • brain inhibitory neurons: 19 nCPM
  • astrocytes: 17 nCPM
  • brain excitatory neurons: 16 nCPM
  • ependymal cells: 13 nCPM
  • oligodendrocyte progenitor cells: 12 nCPM

Immune cell

  • plasmacytoid DC: 2.3 nTPM
  • naive CD4 T-cell: 1.2 nTPM
  • memory B-cell: 1 nTPM
  • total PBMC: 1 nTPM
  • naive B-cell: 0.8 nTPM
  • naive CD8 T-cell: 0.8 nTPM

Brain region

  • pons: 15 nTPM
  • hypothalamus: 14 nTPM
  • thalamus: 13 nTPM
  • white matter: 12 nTPM
  • choroid plexus: 11 nTPM
  • medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCB6.

Disease | AllUniProt

Conditions ABCB6 is implicated in, by any mechanism.

  • Microphthalmia/Coloboma 7 (MCOPCB7) MIM:614497
  • Dyschromatosis universalis hereditaria 3 (DUH3) MIM:615402
  • Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) MIM:609153

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 328 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Dyschromatosis universalis hereditaria 3
  • Microphthalmia, isolated, with coloboma 7
  • Familial pseudohyperkalemia
  • Langereis blood group
  • ABCB6-related disorder

Disease | ImmuneIEDB

Conditions an epitope on ABCB6 was assayed in.

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)
0.98
gnomAD pLI
0
gnomAD missense Z
-0.14
DepMap mean gene effect
0.04
DepMap dependency class
none

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 ABCB6 as an antibody target. Whether an autoantibody or antibody against ABCB6 could matter depends on whether native ABCB6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABCB6 is annotated at the cell surface, where native ABCB6 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 ABCB6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ABCB6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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