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Protein

ATP-binding cassette sub-family B member 7, mitochondrial

Gene

ABCB7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei481ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi505 – 516ATPPROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: ProtInc
  • ATP binding Source: ProtInc
  • heme transporter activity Source: Reactome

GO - Biological processi

  • cellular iron ion homeostasis Source: GO_Central
  • transmembrane transport Source: Reactome
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS05510-MONOMER.
ReactomeiR-HSA-1369007. Mitochondrial ABC transporters.
R-HSA-2564830. Cytosolic iron-sulfur cluster assembly.

Protein family/group databases

TCDBi3.A.1.210.4. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family B member 7, mitochondrial
Alternative name(s):
ATP-binding cassette transporter 7
Short name:
ABC transporter 7 protein
Gene namesi
Name:ABCB7
Synonyms:ABC7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:48. ABCB7.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei141 – 161HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei186 – 206HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei260 – 280HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei291 – 311HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei383 – 403HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei410 – 430HelicalPROSITE-ProRule annotationAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: GO_Central
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Anemia, sideroblastic, spinocerebellar ataxia (ASAT)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.
See also OMIM:301310
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067354208E → D in ASAT. 1 PublicationCorresponds to variant rs515726147dbSNPEnsembl.1
Natural variantiVAR_009156400I → M in ASAT. 1 PublicationCorresponds to variant rs72554634dbSNPEnsembl.1
Natural variantiVAR_022874411V → L in ASAT. 1 PublicationCorresponds to variant rs80356713dbSNPEnsembl.1
Natural variantiVAR_012640433E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 PublicationCorresponds to variant rs80356714dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi22.
MalaCardsiABCB7.
MIMi301310. phenotype.
OpenTargetsiENSG00000131269.
Orphaneti2802. X-linked sideroblastic anemia with ataxia.
PharmGKBiPA24389.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 22MitochondrionSequence analysisAdd BLAST22
ChainiPRO_000000024923 – 752ATP-binding cassette sub-family B member 7, mitochondrialAdd BLAST730

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei216N6-acetyllysineCombined sources1
Modified residuei251N6-acetyllysineCombined sources1
Modified residuei336PhosphoserineBy similarity1
Modified residuei340PhosphotyrosineBy similarity1
Modified residuei342PhosphothreonineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75027.
MaxQBiO75027.
PaxDbiO75027.
PeptideAtlasiO75027.
PRIDEiO75027.

PTM databases

iPTMnetiO75027.
PhosphoSitePlusiO75027.

Expressioni

Gene expression databases

BgeeiENSG00000131269.
CleanExiHS_ABCB7.
ExpressionAtlasiO75027. baseline and differential.
GenevisibleiO75027. HS.

Organism-specific databases

HPAiHPA034982.

Interactioni

Subunit structurei

Homodimer or heterodimer.Curated

Protein-protein interaction databases

BioGridi106540. 27 interactors.
IntActiO75027. 5 interactors.
STRINGi9606.ENSP00000253577.

Structurei

3D structure databases

ProteinModelPortaliO75027.
SMRiO75027.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini140 – 436ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST297
Domaini472 – 706ABC transporterPROSITE-ProRule annotationAdd BLAST235

Sequence similaritiesi

Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
Contains 1 ABC transporter domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0057. Eukaryota.
COG5265. LUCA.
GeneTreeiENSGT00440000033373.
HOVERGENiHBG080194.
InParanoidiO75027.
KOiK05662.
OMAiMMYLAAN.
OrthoDBiEOG091G02G4.
PhylomeDBiO75027.
TreeFamiTF105195.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75027-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:752
Mass (Da):82,641
Last modified:December 1, 2000 - v2
Checksum:iB1FFA57ABD24FB90
GO
Isoform 2 (identifier: O75027-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     56-56: Q → QQ

Show »
Length:753
Mass (Da):82,769
Checksum:i9B96042C55C3C62F
GO
Isoform 3 (identifier: O75027-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     112-151: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:712
Mass (Da):78,160
Checksum:i17AA3D7FBE4F9531
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti141A → P in AAC39865 (PubMed:9653160).Curated1
Sequence conflicti258R → K in BAA28861 (PubMed:9621516).Curated1
Sequence conflicti271 – 276LLPIMF → PLPNHV in AAC39865 (PubMed:9653160).Curated6
Sequence conflicti280L → LL in AAC39865 (PubMed:9653160).Curated1
Sequence conflicti290G → C in AAC39865 (PubMed:9653160).Curated1
Sequence conflicti293 – 297FALVT → LLGN in AAC39865 (PubMed:9653160).Curated5
Sequence conflicti320 – 324IEMNK → LEIDQ in AAC39865 (PubMed:9653160).Curated5
Sequence conflicti542E → V in AAD47141 (PubMed:9883897).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067354208E → D in ASAT. 1 PublicationCorresponds to variant rs515726147dbSNPEnsembl.1
Natural variantiVAR_022872315R → G.2 Publications1
Natural variantiVAR_022873346F → I.2 Publications1
Natural variantiVAR_009156400I → M in ASAT. 1 PublicationCorresponds to variant rs72554634dbSNPEnsembl.1
Natural variantiVAR_022874411V → L in ASAT. 1 PublicationCorresponds to variant rs80356713dbSNPEnsembl.1
Natural variantiVAR_012640433E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 PublicationCorresponds to variant rs80356714dbSNPEnsembl.1
Natural variantiVAR_055471580A → V.Corresponds to variant rs1340989dbSNPEnsembl.1
Natural variantiVAR_037972581V → A.Corresponds to variant rs1340989dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01463556Q → QQ in isoform 2. 2 Publications1
Alternative sequenceiVSP_054700112 – 151Missing in isoform 3. CuratedAdd BLAST40

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, AL359545 Genomic DNA. Translation: CAH70564.1.
AL360179, AL359545 Genomic DNA. Translation: CAH70565.1.
AL359545, AL360179 Genomic DNA. Translation: CAI41573.1.
AL359545, AL360179 Genomic DNA. Translation: CAI41574.1.
CH471104 Genomic DNA. Translation: EAW98635.1.
BC006323 mRNA. Translation: AAH06323.1.
AF078777 mRNA. Translation: AAD47141.1.
CCDSiCCDS14428.1. [O75027-2]
CCDS65290.1. [O75027-3]
CCDS65291.1. [O75027-1]
RefSeqiNP_001258625.1. NM_001271696.1. [O75027-1]
NP_001258626.1. NM_001271697.1. [O75027-3]
NP_001258627.1. NM_001271698.1.
NP_004290.2. NM_004299.4. [O75027-2]
UniGeneiHs.370480.

Genome annotation databases

EnsembliENST00000253577; ENSP00000253577; ENSG00000131269. [O75027-2]
ENST00000339447; ENSP00000343849; ENSG00000131269. [O75027-3]
ENST00000373394; ENSP00000362492; ENSG00000131269. [O75027-1]
GeneIDi22.
KEGGihsa:22.
UCSCiuc004ebz.5. human. [O75027-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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, AL359545 Genomic DNA. Translation: CAH70564.1.
AL360179, AL359545 Genomic DNA. Translation: CAH70565.1.
AL359545, AL360179 Genomic DNA. Translation: CAI41573.1.
AL359545, AL360179 Genomic DNA. Translation: CAI41574.1.
CH471104 Genomic DNA. Translation: EAW98635.1.
BC006323 mRNA. Translation: AAH06323.1.
AF078777 mRNA. Translation: AAD47141.1.
CCDSiCCDS14428.1. [O75027-2]
CCDS65290.1. [O75027-3]
CCDS65291.1. [O75027-1]
RefSeqiNP_001258625.1. NM_001271696.1. [O75027-1]
NP_001258626.1. NM_001271697.1. [O75027-3]
NP_001258627.1. NM_001271698.1.
NP_004290.2. NM_004299.4. [O75027-2]
UniGeneiHs.370480.

3D structure databases

ProteinModelPortaliO75027.
SMRiO75027.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106540. 27 interactors.
IntActiO75027. 5 interactors.
STRINGi9606.ENSP00000253577.

Protein family/group databases

TCDBi3.A.1.210.4. the atp-binding cassette (abc) superfamily.

PTM databases

iPTMnetiO75027.
PhosphoSitePlusiO75027.

Proteomic databases

EPDiO75027.
MaxQBiO75027.
PaxDbiO75027.
PeptideAtlasiO75027.
PRIDEiO75027.

Protocols and materials databases

DNASUi22.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253577; ENSP00000253577; ENSG00000131269. [O75027-2]
ENST00000339447; ENSP00000343849; ENSG00000131269. [O75027-3]
ENST00000373394; ENSP00000362492; ENSG00000131269. [O75027-1]
GeneIDi22.
KEGGihsa:22.
UCSCiuc004ebz.5. human. [O75027-1]

Organism-specific databases

CTDi22.
DisGeNETi22.
GeneCardsiABCB7.
GeneReviewsiABCB7.
H-InvDBHIX0028475.
HGNCiHGNC:48. ABCB7.
HPAiHPA034982.
MalaCardsiABCB7.
MIMi300135. gene.
301310. phenotype.
neXtProtiNX_O75027.
OpenTargetsiENSG00000131269.
Orphaneti2802. X-linked sideroblastic anemia with ataxia.
PharmGKBiPA24389.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0057. Eukaryota.
COG5265. LUCA.
GeneTreeiENSGT00440000033373.
HOVERGENiHBG080194.
InParanoidiO75027.
KOiK05662.
OMAiMMYLAAN.
OrthoDBiEOG091G02G4.
PhylomeDBiO75027.
TreeFamiTF105195.

Enzyme and pathway databases

BioCyciZFISH:HS05510-MONOMER.
ReactomeiR-HSA-1369007. Mitochondrial ABC transporters.
R-HSA-2564830. Cytosolic iron-sulfur cluster assembly.

Miscellaneous databases

ChiTaRSiABCB7. human.
GeneWikiiABCB7.
GenomeRNAii22.
PROiO75027.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131269.
CleanExiHS_ABCB7.
ExpressionAtlasiO75027. baseline and differential.
GenevisibleiO75027. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEiPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCB7_HUMAN
AccessioniPrimary (citable) accession number: O75027
Secondary accession number(s): G3XAC4
, O75345, Q5VWY7, Q5VWY8, Q9BRE1, Q9UND1, Q9UP01
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 1, 2000
Last modified: November 2, 2016
This is version 163 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.