Seroatlas · Human Serome Atlas

ABCB8

Mitochondrial potassium channel ATP-binding subunit

Also known as: EST328128, M-ABC1, MABC1, MITOS_HUMAN, MITOSUR

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

Protein identityUniProt · HPA

UniProt accession: Q9NUT2
Gene: ABCB8
Ensembl: ENSG00000197150
Chromosome: 7
Canonical length: 735 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm,Nucleoli,Mitochondria

OverviewNCBI Gene

This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

735 residues, UniProt reviewed canonical sequence.

>Q9NUT2|ABCB8
     1  MLVHLFRVGI RGGPFPGRLL PPLRFQTFSA VRNTWRNGKT GQLHKAEGEY SDGYRSSSLL
    61  RAVAHLRSQL WAHLPRAPLA PRWSPSAWCW VGGALLGPMV LSKHPHLCLV ALCEAEEAPP
   121  ASSTPHVVGS RFNWKLFWQF LHPHLLVLGV AVVLALGAAL VNVQIPLLLG QLVEVVAKYT
   181  RDHVGSFMTE SQNLSTHLLI LYGVQGLLTF GYLVLLSHVG ERMAVDMRRA LFSSLLRQDI
   241  TFFDANKTGQ LVSRLTTDVQ EFKSSFKLVI SQGLRSCTQV AGCLVSLSML STRLTLLLMV
   301  ATPALMGVGT LMGSGLRKLS RQCQEQIARA MGVADEALGN VRTVRAFAME QREEERYGAE
   361  LEACRCRAEE LGRGIALFQG LSNIAFNCMV LGTLFIGGSL VAGQQLTGGD LMSFLVASQT
   421  VQRSMANLSV LFGQVVRGLS AGARVFEYMA LNPCIPLSGG CCVPKEQLRG SVTFQNVCFS
   481  YPCRPGFEVL KDFTLTLPPG KIVALVGQSG GGKTTVASLL ERFYDPTAGV VMLDGRDLRT
   541  LDPSWLRGQV VGFISQEPVL FGTTIMENIR FGKLEASDEE VYTAAREANA HEFITSFPEG
   601  YNTVVGERGT TLSGGQKQRL AIARALIKQP TVLILDEATS ALDAESERVV QEALDRASAG
   661  RTVLVIAHRL STVRGAHCIV VMADGRVWEA GTHEELLKKG GLYAELIRRQ ALDAPRTAAP
   721  PPKKPEGPRS HQHKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCB8 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: 3
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 23 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 23 nTPM
liver: 20 nTPM
adrenal gland: 19 nTPM
pituitary gland: 19 nTPM
esophagus: 17 nTPM
cerebral cortex: 16 nTPM

Single-cell type

syncytiotrophoblasts: 113 nCPM
retinal ganglion cells: 77 nCPM
myonuclei: 53 nCPM
rod photoreceptor cells: 49 nCPM
alveolar cells type 1: 49 nCPM
decidual stromal cells: 48 nCPM

Immune cell

basophil: 12 nTPM
plasmacytoid DC: 7.1 nTPM
gdT-cell: 4.9 nTPM
intermediate monocyte: 4.7 nTPM
naive CD8 T-cell: 4.4 nTPM
myeloid DC: 4.3 nTPM

Brain region

white matter: 34 nTPM
cerebral cortex: 32 nTPM
pons: 31 nTPM
medulla oblongata: 29 nTPM
choroid plexus: 29 nTPM
thalamus: 28 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCB8.

Disease | ImmuneIEDB

Conditions an epitope on ABCB8 was assayed in.

melanoma 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): 1.08
gnomAD pLI: 0
gnomAD missense Z: 0.3
DepMap mean gene effect: 0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

InteractionsUniProt · HPA

Protein binding partners of ABCB8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

NRP1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ABCB8 as an antibody target. Whether an autoantibody or antibody against ABCB8 could matter depends on whether native ABCB8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABCB8 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 ABCB8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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