ABCB7

Protein identityUniProt · HPA

UniProt accession

O75027

Gene

ABCB7

Ensembl

ENSG00000131269

Chromosome

X

Canonical length

752 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Mitochondria

Quaternary structure

Homodimer

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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

752 residues, UniProt reviewed canonical sequence.

>O75027|ABCB7
     1  MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQIPES
    61  LKSITWQRLG KGNSGQFLDA AKALQVWPLI EKRTCWHGHA GGGLHTDPKE GLKDVDTRKI
   121  IKAMLSYVWP KDRPDLRARV AISLGFLGGA KAMNIVVPFM FKYAVDSLNQ MSGNMLNLSD
   181  APNTVATMAT AVLIGYGVSR AGAAFFNEVR NAVFGKVAQN SIRRIAKNVF LHLHNLDLGF
   241  HLSRQTGALS KAIDRGTRGI SFVLSALVFN LLPIMFEVML VSGVLYYKCG AQFALVTLGT
   301  LGTYTAFTVA VTRWRTRFRI EMNKADNDAG NAAIDSLLNY ETVKYFNNER YEAQRYDGFL
   361  KTYETASLKS TSTLAMLNFG QSAIFSVGLT AIMVLASQGI VAGTLTVGDL VMVNGLLFQL
   421  SLPLNFLGTV YRETRQALID MNTLFTLLKV DTQIKDKVMA SPLQITPQTA TVAFDNVHFE
   481  YIEGQKVLSG ISFEVPAGKK VAIVGGSGSG KSTIVRLLFR FYEPQKGSIY LAGQNIQDVS
   541  LESLRRAVGV VPQDAVLFHN TIYYNLLYGN ISASPEEVYA VAKLAGLHDA ILRMPHGYDT
   601  QVGERGLKLS GGEKQRVAIA RAILKDPPVI LYDEATSSLD SITEETILGA MKDVVKHRTS
   661  IFIAHRLSTV VDADEIIVLD QGKVAERGTH HGLLANPHSI YSEMWHTQSS RVQNHDNPKW
   721  EAKKENISKE EERKKLQEEI VNSVKGCGNC SC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCB7 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

6

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCB7.

Disease | AllUniProt

Conditions ABCB7 is implicated in, by any mechanism.

• Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia (SCAX6) MIM:301310

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 416 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• X-linked sideroblastic anemia with ataxia
• Spinocerebellar ataxia, X-linked
• Inborn genetic diseases
• Nonpapillary renal cell carcinoma

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)

0.11

gnomAD pLI

1

gnomAD missense Z

2.9

DepMap mean gene effect

-1.28

DepMap dependency class

common

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

• intracellular iron ion homeostasis
• iron ion transmembrane transport
• iron-sulfur cluster assembly
• negative regulation of reactive oxygen species biosynthetic process
• positive regulation of heme biosynthetic process
• transmembrane transport
• iron-sulfur cluster export from the mitochondrion
• positive regulation of iron-sulfur cluster assembly

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATPase-coupled transmembrane transporter activity
• heme transmembrane transporter activity
• identical protein binding
• protein homodimerization activity
• ABC-type iron-sulfur cluster transporter activity

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• ABC transporter-like, ATP-binding domain
• AAA+ ATPase domain
• ABC transporter type 1, transmembrane domain
• ABC transporter-like, conserved site
• P-loop containing nucleoside triphosphate hydrolase
• ABC transporter type 1, transmembrane domain superfamily
• Type 1 protein exporter
• ABC transporter
• ABC transporter transmembrane region

KeywordsUniProt

• Acetylation
• ATP-binding
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Nucleotide-binding
• Phosphoprotein
• Transit peptide
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ABCB7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATP5F1A
• COX4I1
• FECH
• PAAT