UniProtKB - O75027 (ABCB7_HUMAN)
Iron-sulfur clusters transporter ABCB7, mitochondrial
ABCB7
Functioni
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:33157103, PubMed:17192393, PubMed:10196363).
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).
By similarity4 PublicationsCatalytic activityi
- (glutathione)4[2Fe(III)-2S] cluster(in) + ATP + H2O = (glutathione)4[2Fe(III)-2S] cluster(out) + ADP + H+ + phosphate1 PublicationThis reaction proceeds in the forward1 Publication direction.
Activity regulationi
Kineticsi
- KM=5.3 mM for Mg-ATP1 Publication
- KM=0.54 mM for Mg-ATP (in the presence of the [2Fe-2S](GS)4 cluster)1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 428 | Glutathione; via amide nitrogenBy similarity | 1 | |
Binding sitei | 481 | ATPBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 505 – 516 | ATPPROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- ABC-type iron-sulfur cluster transporter activity Source: UniProtKB
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: ProtInc
- heme transmembrane transporter activity Source: ProtInc
- protein homodimerization activity Source: UniProtKB
GO - Biological processi
- cellular iron ion homeostasis Source: UniProtKB
- iron ion homeostasis Source: UniProtKB
- iron ion transmembrane transport Source: UniProtKB
- iron-sulfur cluster assembly Source: UniProtKB
- iron-sulfur cluster export from the mitochondrion Source: UniProtKB
- negative regulation of reactive oxygen species biosynthetic process Source: UniProtKB
- positive regulation of heme biosynthetic process Source: UniProtKB
- positive regulation of iron-sulfur cluster assembly Source: UniProtKB
- transmembrane transport Source: GO_Central
Keywordsi
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O75027 |
Reactomei | R-HSA-1369007, Mitochondrial ABC transporters R-HSA-2564830, Cytosolic iron-sulfur cluster assembly |
SignaLinki | O75027 |
Protein family/group databases
TCDBi | 3.A.1.210.4, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Iron-sulfur clusters transporter ABCB7, mitochondrialCuratedAlternative name(s): ATP-binding cassette sub-family B member 7, mitochondrialCurated ATP-binding cassette transporter 7 Short name: ABC transporter 7 protein |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:48, ABCB7 |
MIMi | 300135, gene |
neXtProti | NX_O75027 |
VEuPathDBi | HostDB:ENSG00000131269 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane By similarity; Multi-pass membrane protein By similarity
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
- mitochondrion Source: UniProtKB
Other locations
- integral component of membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 23 – 140 | Mitochondrial matrixBy similarityAdd BLAST | 118 | |
Transmembranei | 141 – 161 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 162 – 185 | Mitochondrial intermembraneBy similarityAdd BLAST | 24 | |
Transmembranei | 186 – 206 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 207 – 259 | Mitochondrial matrixBy similarityAdd BLAST | 53 | |
Transmembranei | 260 – 280 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 281 – 290 | Mitochondrial intermembraneBy similarity | 10 | |
Transmembranei | 291 – 311 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 312 – 382 | Mitochondrial matrixBy similarityAdd BLAST | 71 | |
Transmembranei | 383 – 403 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 404 – 409 | Mitochondrial intermembraneBy similarity | 6 | |
Transmembranei | 410 – 430 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 431 – 752 | Mitochondrial matrixBy similarityAdd BLAST | 322 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Anemia, sideroblastic, spinocerebellar ataxia (ASAT)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067354 | 208 | E → D in ASAT. 1 PublicationCorresponds to variant dbSNP:rs515726147EnsemblClinVar. | 1 | |
Natural variantiVAR_009156 | 400 | I → M in ASAT. 1 PublicationCorresponds to variant dbSNP:rs72554634EnsemblClinVar. | 1 | |
Natural variantiVAR_022874 | 411 | V → L in ASAT. 1 PublicationCorresponds to variant dbSNP:rs80356713EnsemblClinVar. | 1 | |
Natural variantiVAR_012640 | 433 | E → K in ASAT; impaired maturation of cytosolic Fe/S proteins, 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. 2 PublicationsCorresponds to variant dbSNP:rs80356714EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 433 | 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. 1 Publication | 1 | |
Mutagenesisi | 433 | E → K: 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. 1 Publication | 1 | |
Mutagenesisi | 433 | 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. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 22 |
MalaCardsi | ABCB7 |
MIMi | 301310, phenotype |
OpenTargetsi | ENSG00000131269 |
Orphaneti | 2802, X-linked sideroblastic anemia and spinocerebellar ataxia |
PharmGKBi | PA24389 |
Miscellaneous databases
Pharosi | O75027, Tbio |
Genetic variation databases
BioMutai | ABCB7 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 22 | MitochondrionSequence analysisAdd BLAST | 22 | |
ChainiPRO_0000000249 | 23 – 752 | Iron-sulfur clusters transporter ABCB7, mitochondrialAdd BLAST | 730 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 216 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 251 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 336 | PhosphoserineBy similarity | 1 | |
Modified residuei | 340 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 342 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | O75027 |
jPOSTi | O75027 |
MassIVEi | O75027 |
MaxQBi | O75027 |
PaxDbi | O75027 |
PeptideAtlasi | O75027 |
PRIDEi | O75027 |
ProteomicsDBi | 33710 49702 [O75027-1] 49703 [O75027-2] |
PTM databases
GlyGeni | O75027, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | O75027 |
PhosphoSitePlusi | O75027 |
SwissPalmi | O75027 |
Expressioni
Gene expression databases
Bgeei | ENSG00000131269, Expressed in liver and 229 other tissues |
ExpressionAtlasi | O75027, baseline and differential |
Genevisiblei | O75027, HS |
Organism-specific databases
HPAi | ENSG00000131269, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer or heterodimer (PubMed:30765471).
Interacts with C10orf88/PAAT (PubMed:25063848).
Forms a complex with ABCB10 and FECH, where a dimeric FECH bridges ABCB7 and ABCB10 homodimers; this complex may be required for cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471).
Interacts with FECH (PubMed:30765471).
Interacts with ATP5F1A (By similarity).
Interacts with COX4I1; this interaction allows the regulation of cellular iron homeostasis and cellular reactive oxygen species (ROS) levels in cardiomyocytes (By similarity).
By similarity2 PublicationsGO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 106540, 139 interactors |
IntActi | O75027, 15 interactors |
MINTi | O75027 |
STRINGi | 9606.ENSP00000253577 |
Miscellaneous databases
RNActi | O75027, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 140 – 436 | ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST | 297 | |
Domaini | 472 – 706 | ABC transporterPROSITE-ProRule annotationAdd BLAST | 235 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 315 – 319 | Glutathione bindingBy similarity | 5 | |
Regioni | 378 – 381 | Glutathione bindingBy similarity | 4 |
Sequence similaritiesi
Keywords - Domaini
Transit peptide, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0057, Eukaryota |
GeneTreei | ENSGT00940000156281 |
InParanoidi | O75027 |
OMAi | VTEWRTH |
PhylomeDBi | O75027 |
TreeFami | TF105195 |
Family and domain databases
Gene3Di | 1.20.1560.10, 1 hit 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like_ATP-bd IPR017871, ABC_transporter-like_CS IPR027417, P-loop_NTPase IPR039421, Type_1_exporter |
PANTHERi | PTHR24221, PTHR24221, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG
60 70 80 90 100
TARAYQIPES LKSITWQRLG KGNSGQFLDA AKALQVWPLI EKRTCWHGHA
110 120 130 140 150
GGGLHTDPKE GLKDVDTRKI IKAMLSYVWP KDRPDLRARV AISLGFLGGA
160 170 180 190 200
KAMNIVVPFM FKYAVDSLNQ MSGNMLNLSD APNTVATMAT AVLIGYGVSR
210 220 230 240 250
AGAAFFNEVR NAVFGKVAQN SIRRIAKNVF LHLHNLDLGF HLSRQTGALS
260 270 280 290 300
KAIDRGTRGI SFVLSALVFN LLPIMFEVML VSGVLYYKCG AQFALVTLGT
310 320 330 340 350
LGTYTAFTVA VTRWRTRFRI EMNKADNDAG NAAIDSLLNY ETVKYFNNER
360 370 380 390 400
YEAQRYDGFL KTYETASLKS TSTLAMLNFG QSAIFSVGLT AIMVLASQGI
410 420 430 440 450
VAGTLTVGDL VMVNGLLFQL SLPLNFLGTV YRETRQALID MNTLFTLLKV
460 470 480 490 500
DTQIKDKVMA SPLQITPQTA TVAFDNVHFE YIEGQKVLSG ISFEVPAGKK
510 520 530 540 550
VAIVGGSGSG KSTIVRLLFR FYEPQKGSIY LAGQNIQDVS LESLRRAVGV
560 570 580 590 600
VPQDAVLFHN TIYYNLLYGN ISASPEEVYA VAKLAGLHDA ILRMPHGYDT
610 620 630 640 650
QVGERGLKLS GGEKQRVAIA RAILKDPPVI LYDEATSSLD SITEETILGA
660 670 680 690 700
MKDVVKHRTS IFIAHRLSTV VDADEIIVLD QGKVAERGTH HGLLANPHSI
710 720 730 740 750
YSEMWHTQSS RVQNHDNPKW EAKKENISKE EERKKLQEEI VNSVKGCGNC
SC
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WW65 | A0A087WW65_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 713 | Annotation score: | ||
A0A590UJS8 | A0A590UJS8_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 693 | Annotation score: | ||
A0A5F9ZA98 | A0A5F9ZA98_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 757 | Annotation score: | ||
B4DGL8 | B4DGL8_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 702 | Annotation score: | ||
A0A2R8Y473 | A0A2R8Y473_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 651 | Annotation score: | ||
E9PJR8 | E9PJR8_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 188 | Annotation score: | ||
A0A2R8YF35 | A0A2R8YF35_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 47 | Annotation score: | ||
A0A2R8Y3N2 | A0A2R8Y3N2_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 159 | Annotation score: | ||
E9PNQ5 | E9PNQ5_HUMAN | Iron-sulfur clusters transporter AB... | ABCB7 | 159 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 141 | A → P in AAC39865 (PubMed:9653160).Curated | 1 | |
Sequence conflicti | 258 | R → K in BAA28861 (PubMed:9621516).Curated | 1 | |
Sequence conflicti | 271 – 276 | LLPIMF → PLPNHV in AAC39865 (PubMed:9653160).Curated | 6 | |
Sequence conflicti | 280 | L → LL in AAC39865 (PubMed:9653160).Curated | 1 | |
Sequence conflicti | 290 | G → C in AAC39865 (PubMed:9653160).Curated | 1 | |
Sequence conflicti | 293 – 297 | FALVT → LLGN in AAC39865 (PubMed:9653160).Curated | 5 | |
Sequence conflicti | 320 – 324 | IEMNK → LEIDQ in AAC39865 (PubMed:9653160).Curated | 5 | |
Sequence conflicti | 542 | E → V in AAD47141 (PubMed:9883897).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067354 | 208 | E → D in ASAT. 1 PublicationCorresponds to variant dbSNP:rs515726147EnsemblClinVar. | 1 | |
Natural variantiVAR_022872 | 315 | R → G2 Publications | 1 | |
Natural variantiVAR_022873 | 346 | F → I2 Publications | 1 | |
Natural variantiVAR_009156 | 400 | I → M in ASAT. 1 PublicationCorresponds to variant dbSNP:rs72554634EnsemblClinVar. | 1 | |
Natural variantiVAR_022874 | 411 | V → L in ASAT. 1 PublicationCorresponds to variant dbSNP:rs80356713EnsemblClinVar. | 1 | |
Natural variantiVAR_012640 | 433 | E → K in ASAT; impaired maturation of cytosolic Fe/S proteins, 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. 2 PublicationsCorresponds to variant dbSNP:rs80356714EnsemblClinVar. | 1 | |
Natural variantiVAR_055471 | 580 | A → V. Corresponds to variant dbSNP:rs1340989EnsemblClinVar. | 1 | |
Natural variantiVAR_037972 | 581 | V → A. Corresponds to variant dbSNP:rs1340989EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_014635 | 56 | Q → QQ in isoform 2. 2 Publications | 1 | |
Alternative sequenceiVSP_054700 | 112 – 151 | Missing in isoform 3. CuratedAdd BLAST | 40 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB005289 mRNA Translation: BAA28861.1 AF133659 mRNA Translation: AAD33045.1 AF241887 , AF241872, AF241873, AF241874, AF241875, AF241876, AF241877, AF241878, AF241879, AF241880, AF241881, AF241882, AF241883, AF241884, AF241885, AF241886 Genomic DNA Translation: AAK20173.1 AF038950 mRNA Translation: AAC39865.1 BT009918 mRNA Translation: AAP88920.1 AL360179 Genomic DNA No translation available. AL359545 Genomic DNA No translation available. CH471104 Genomic DNA Translation: EAW98635.1 BC006323 mRNA Translation: AAH06323.1 AF078777 mRNA Translation: AAD47141.1 |
CCDSi | CCDS14428.1 [O75027-2] CCDS65290.1 [O75027-3] CCDS65291.1 [O75027-1] |
RefSeqi | NP_001258625.1, NM_001271696.1 [O75027-1] NP_001258626.1, NM_001271697.1 [O75027-3] NP_004290.2, NM_004299.4 [O75027-2] |
Genome annotation databases
Ensembli | ENST00000253577.9; ENSP00000253577.3; ENSG00000131269.19 [O75027-2] ENST00000339447.8; ENSP00000343849.4; ENSG00000131269.19 [O75027-3] ENST00000373394.8; ENSP00000362492.3; ENSG00000131269.19 |
GeneIDi | 22 |
KEGGi | hsa:22 |
MANE-Selecti | ENST00000373394.8; ENSP00000362492.3; NM_001271696.3; NP_001258625.1 |
UCSCi | uc004ebz.5, human [O75027-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
ABCMdb Database for mutations in ABC proteins |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB005289 mRNA Translation: BAA28861.1 AF133659 mRNA Translation: AAD33045.1 AF241887 , AF241872, AF241873, AF241874, AF241875, AF241876, AF241877, AF241878, AF241879, AF241880, AF241881, AF241882, AF241883, AF241884, AF241885, AF241886 Genomic DNA Translation: AAK20173.1 AF038950 mRNA Translation: AAC39865.1 BT009918 mRNA Translation: AAP88920.1 AL360179 Genomic DNA No translation available. AL359545 Genomic DNA No translation available. CH471104 Genomic DNA Translation: EAW98635.1 BC006323 mRNA Translation: AAH06323.1 AF078777 mRNA Translation: AAD47141.1 |
CCDSi | CCDS14428.1 [O75027-2] CCDS65290.1 [O75027-3] CCDS65291.1 [O75027-1] |
RefSeqi | NP_001258625.1, NM_001271696.1 [O75027-1] NP_001258626.1, NM_001271697.1 [O75027-3] NP_004290.2, NM_004299.4 [O75027-2] |
3D structure databases
AlphaFoldDBi | O75027 |
SMRi | O75027 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106540, 139 interactors |
IntActi | O75027, 15 interactors |
MINTi | O75027 |
STRINGi | 9606.ENSP00000253577 |
Protein family/group databases
TCDBi | 3.A.1.210.4, the atp-binding cassette (abc) superfamily |
PTM databases
GlyGeni | O75027, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | O75027 |
PhosphoSitePlusi | O75027 |
SwissPalmi | O75027 |
Genetic variation databases
BioMutai | ABCB7 |
Proteomic databases
EPDi | O75027 |
jPOSTi | O75027 |
MassIVEi | O75027 |
MaxQBi | O75027 |
PaxDbi | O75027 |
PeptideAtlasi | O75027 |
PRIDEi | O75027 |
ProteomicsDBi | 33710 49702 [O75027-1] 49703 [O75027-2] |
Protocols and materials databases
Antibodypediai | 28030, 301 antibodies from 33 providers |
DNASUi | 22 |
Genome annotation databases
Ensembli | ENST00000253577.9; ENSP00000253577.3; ENSG00000131269.19 [O75027-2] ENST00000339447.8; ENSP00000343849.4; ENSG00000131269.19 [O75027-3] ENST00000373394.8; ENSP00000362492.3; ENSG00000131269.19 |
GeneIDi | 22 |
KEGGi | hsa:22 |
MANE-Selecti | ENST00000373394.8; ENSP00000362492.3; NM_001271696.3; NP_001258625.1 |
UCSCi | uc004ebz.5, human [O75027-1] |
Organism-specific databases
CTDi | 22 |
DisGeNETi | 22 |
GeneCardsi | ABCB7 |
HGNCi | HGNC:48, ABCB7 |
HPAi | ENSG00000131269, Low tissue specificity |
MalaCardsi | ABCB7 |
MIMi | 300135, gene 301310, phenotype |
neXtProti | NX_O75027 |
OpenTargetsi | ENSG00000131269 |
Orphaneti | 2802, X-linked sideroblastic anemia and spinocerebellar ataxia |
PharmGKBi | PA24389 |
VEuPathDBi | HostDB:ENSG00000131269 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0057, Eukaryota |
GeneTreei | ENSGT00940000156281 |
InParanoidi | O75027 |
OMAi | VTEWRTH |
PhylomeDBi | O75027 |
TreeFami | TF105195 |
Enzyme and pathway databases
PathwayCommonsi | O75027 |
Reactomei | R-HSA-1369007, Mitochondrial ABC transporters R-HSA-2564830, Cytosolic iron-sulfur cluster assembly |
SignaLinki | O75027 |
Miscellaneous databases
BioGRID-ORCSi | 22, 400 hits in 721 CRISPR screens |
ChiTaRSi | ABCB7, human |
GeneWikii | ABCB7 |
GenomeRNAii | 22 |
Pharosi | O75027, Tbio |
PROi | PR:O75027 |
RNActi | O75027, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131269, Expressed in liver and 229 other tissues |
ExpressionAtlasi | O75027, baseline and differential |
Genevisiblei | O75027, HS |
Family and domain databases
Gene3Di | 1.20.1560.10, 1 hit 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like_ATP-bd IPR017871, ABC_transporter-like_CS IPR027417, P-loop_NTPase IPR039421, Type_1_exporter |
PANTHERi | PTHR24221, PTHR24221, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCB7_HUMAN | |
Accessioni | O75027Primary (citable) accession number: O75027 Secondary accession number(s): G3XAC4 Q9UP01 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | December 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 199 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families