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UniProtKB - O75027 (ABCB7_HUMAN)

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Protein

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

Gene

ABCB7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000131269.15
HGNCiHGNC:48 ABCB7
MIMi300135 gene
neXtProtiNX_O75027

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs515726147Ensembl.1
Natural variantiVAR_009156400I → M in ASAT. 1 PublicationCorresponds to variant dbSNP:rs72554634Ensembl.1
Natural variantiVAR_022874411V → L in ASAT. 1 PublicationCorresponds to variant dbSNP:rs80356713Ensembl.1
Natural variantiVAR_012640433E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 PublicationCorresponds to variant dbSNP:rs80356714Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi22
GeneReviewsiABCB7
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
ProteomicsDBi49702
49703 [O75027-2]

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, 32 interactors
IntActiO75027, 7 interactors
MINTiO75027
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

Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. [View classification]Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0057 Eukaryota
COG5265 LUCA
GeneTreeiENSGT00440000033373
HOVERGENiHBG080194
InParanoidiO75027
KOiK05662
OMAiYEAQRYD
OrthoDBiEOG091G02G4
PhylomeDBiO75027
TreeFamiTF105195

Family and domain databases

Gene3Di1.20.1560.10, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00664 ABC_membrane, 1 hit
PF00005 ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

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 dbSNP:rs515726147Ensembl.1
Natural variantiVAR_022872315R → G2 Publications1
Natural variantiVAR_022873346F → I2 Publications1
Natural variantiVAR_009156400I → M in ASAT. 1 PublicationCorresponds to variant dbSNP:rs72554634Ensembl.1
Natural variantiVAR_022874411V → L in ASAT. 1 PublicationCorresponds to variant dbSNP:rs80356713Ensembl.1
Natural variantiVAR_012640433E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 PublicationCorresponds to variant dbSNP:rs80356714Ensembl.1
Natural variantiVAR_055471580A → V. Corresponds to variant dbSNP:rs1340989Ensembl.1
Natural variantiVAR_037972581V → A. Corresponds to variant dbSNP:rs1340989Ensembl.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 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
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_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]
ENST00000645829; ENSP00000496526; ENSG00000131269 [O75027-2]
GeneIDi22
KEGGihsa:22
UCSCiuc004ebz.5 human [O75027-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiABCB7_HUMAN
AccessioniPrimary (citable) accession number: O75027
Secondary accession number(s): G3XAC4
, O75345, Q5VWY7, Q5VWY8, Q9BRE1, Q9UND1, Q9UP01
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 1, 2000
Last modified: June 20, 2018
This is version 174 of the entry and version 2 of the sequence. See 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

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