ABCB7
entrez
22
canonical
uniprot
O75027
canonical
ensembl
ENSG00000131269
resolver
ensp
ENSP00000253577
resolver
ensp
ENSP00000343849
resolver
ensp
ENSP00000362492
resolver
ensp
ENSP00000436586
resolver
ensp
ENSP00000479985
resolver
enst
ENST00000620875
resolver
genesymbol
ABCB7
resolver
genesymbol_syn
ABC7
resolver
hgnc
HGNC:48
resolver
uniprot
A0A087WW65
resolver
uniprot
A0A0S2Z2Z3
resolver
uniprot
G3XAC4
resolver
uniprot
O75345
resolver
uniprot
Q5VWY7
resolver
uniprot
Q5VWY8
resolver
uniprot
Q9BRE1
resolver
uniprot
Q9UND1
resolver
uniprot
Q9UP01
resolver
uniprot_entry
A0A087WW65_HUMAN
resolver
uniprot_entry
A0A0S2Z2Z3_HUMAN
resolver
uniprot_entry
ABCB7_HUMAN
resolver
uniprot_sec
G3XAC4
resolver
uniprot_sec
O75345
resolver
uniprot_sec
Q5VWY7
resolver
uniprot_sec
Q5VWY8
resolver
uniprot_sec
Q9BRE1
resolver
uniprot_sec
Q9UND1
resolver
uniprot_sec
Q9UP01
resolver
activity_regulation
ACTIVITY REGULATION: ATPase activity is stimulated by glutathione. {ECO:0000269|PubMed:33157103}.
uniprot
proteins
amino_acid_sequence
MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia (SCAX6) [MIM:301310]: An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. {ECO:0000269|PubMed:10196363, ECO:0000269|PubMed:11050011, ECO:0000269|PubMed:11843825, ECO:0000269|PubMed:22398176, ECO:0000269|PubMed:33157103}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and participates in iron homeostasis (PubMed:10196363, PubMed:17192393, PubMed:33157103). Moreover, through a functional complex formed of ABCB7, FECH and ABCB10, also plays a role in the cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471). In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1 (By similarity). May also play a role in hematopoiesis (By similarity). {ECO:0000250|UniProtKB:Q61102, ECO:0000250|UniProtKB:Q704E8, ECO:0000269|PubMed:10196363, ECO:0000269|PubMed:17192393, ECO:0000269|PubMed:30765471, ECO:0000269|PubMed:33157103}.
uniprot
proteins
mass_dalton
82641
uniprot
proteins
mutagenesis
MUTAGEN 433; /note="E->D: Significantly increases ATPase activity by [2Fe-2S]-(GS)4 cluster stimulation. Increases affinity for Mg-ATP. Does not affect affinity for Mg-ATP in the presence of the in the presence of [2Fe-2S]-(GS)4 cluster. Does not affect [2Fe-2S]-(GS)4 cluster transport."; /evidence="ECO:0000269|PubMed:33157103"; MUTAGEN 433; /note="E->Q: Loss of ATPase activity stimulation by [2Fe-2S]-(GS)4 cluster stimulation. Loss of the ability to couple MgATP binding with stimulation of ATPase activity at the nucleotide binding domain. Loss of [2Fe-2S]-(GS)4 cluster transport."; /evidence="ECO:0000269|PubMed:33157103
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCB family
uniprot
proteins
protein_family
Heavy Metal importer (TC 3.A.1.210) subfamily
uniprot
proteins
pubmed
10196363
uniprot
proteins
pubmed
11050011
uniprot
proteins
pubmed
11843825
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17192393
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22398176
uniprot
proteins
pubmed
25063848
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30765471
uniprot
proteins
pubmed
33157103
uniprot
proteins
pubmed
9621516
uniprot
proteins
pubmed
9653160
uniprot
proteins
pubmed
9883897
uniprot
proteins
sequence_length
752
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P40416}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P40416}.
uniprot
proteins
transmembrane_region
TRANSMEM 141..161; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 186..206; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 260..280; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 291..311; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 383..403; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 410..430; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441
uniprot
proteins