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O75027 (ABCB7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ABCB7
Synonyms:ABC7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length752 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Homodimer or heterodimer Potential.

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Potential.

Involvement in disease

Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3 Ref.11 Ref.12

Sequence similarities

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

Contains 1 ABC transmembrane type-1 domain.

Contains 1 ABC transporter domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75027-1)

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.
Isoform 2 (identifier: O75027-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential
Chain? – 752ATP-binding cassette sub-family B member 7, mitochondrialPRO_0000000249

Regions

Transmembrane141 – 16121Helical; Potential
Transmembrane186 – 20621Helical; Potential
Transmembrane260 – 28021Helical; Potential
Transmembrane291 – 31121Helical; Potential
Transmembrane383 – 40321Helical; Potential
Transmembrane410 – 43021Helical; Potential
Domain140 – 436297ABC transmembrane type-1
Domain472 – 706235ABC transporter
Nucleotide binding505 – 5128ATP Potential

Amino acid modifications

Modified residue2161N6-acetyllysine Ref.9
Modified residue2511N6-acetyllysine Ref.9
Modified residue3361Phosphoserine By similarity
Modified residue3401Phosphotyrosine By similarity
Modified residue3421Phosphothreonine By similarity

Natural variations

Alternative sequence561Q → QQ in isoform 2.
VSP_014635
Natural variant2081E → D in ASAT. Ref.12
VAR_067354
Natural variant3151R → G. Ref.1 Ref.11
VAR_022872
Natural variant3461F → I. Ref.1 Ref.11
VAR_022873
Natural variant4001I → M in ASAT. Ref.2
VAR_009156
Natural variant4111V → L in ASAT. Ref.11
VAR_022874
Natural variant4331E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. Ref.3
VAR_012640
Natural variant5801A → V.
Corresponds to variant rs1340989 [ dbSNP | Ensembl ].
VAR_055471
Natural variant5811V → A.
Corresponds to variant rs1340989 [ dbSNP | Ensembl ].
VAR_037972

Experimental info

Sequence conflict1411A → P in AAC39865. Ref.4
Sequence conflict2581R → K in BAA28861. Ref.1
Sequence conflict271 – 2766LLPIMF → PLPNHV in AAC39865. Ref.4
Sequence conflict2801L → LL in AAC39865. Ref.4
Sequence conflict2901G → C in AAC39865. Ref.4
Sequence conflict293 – 2975FALVT → LLGN in AAC39865. Ref.4
Sequence conflict320 – 3245IEMNK → LEIDQ in AAC39865. Ref.4
Sequence conflict5421E → V in AAD47141. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: B1FFA57ABD24FB90

FASTA75282,641
        10         20         30         40         50         60 
MALLAMHSWR WAAAAAAFEK RRHSAILIRP LVSVSGSGPQ WRPHQLGALG TARAYQIPES 

        70         80         90        100        110        120 
LKSITWQRLG KGNSGQFLDA AKALQVWPLI EKRTCWHGHA GGGLHTDPKE GLKDVDTRKI 

       130        140        150        160        170        180 
IKAMLSYVWP KDRPDLRARV AISLGFLGGA KAMNIVVPFM FKYAVDSLNQ MSGNMLNLSD 

       190        200        210        220        230        240 
APNTVATMAT AVLIGYGVSR AGAAFFNEVR NAVFGKVAQN SIRRIAKNVF LHLHNLDLGF 

       250        260        270        280        290        300 
HLSRQTGALS KAIDRGTRGI SFVLSALVFN LLPIMFEVML VSGVLYYKCG AQFALVTLGT 

       310        320        330        340        350        360 
LGTYTAFTVA VTRWRTRFRI EMNKADNDAG NAAIDSLLNY ETVKYFNNER YEAQRYDGFL 

       370        380        390        400        410        420 
KTYETASLKS TSTLAMLNFG QSAIFSVGLT AIMVLASQGI VAGTLTVGDL VMVNGLLFQL 

       430        440        450        460        470        480 
SLPLNFLGTV YRETRQALID MNTLFTLLKV DTQIKDKVMA SPLQITPQTA TVAFDNVHFE 

       490        500        510        520        530        540 
YIEGQKVLSG ISFEVPAGKK VAIVGGSGSG KSTIVRLLFR FYEPQKGSIY LAGQNIQDVS 

       550        560        570        580        590        600 
LESLRRAVGV VPQDAVLFHN TIYYNLLYGN ISASPEEVYA VAKLAGLHDA ILRMPHGYDT 

       610        620        630        640        650        660 
QVGERGLKLS GGEKQRVAIA RAILKDPPVI LYDEATSSLD SITEETILGA MKDVVKHRTS 

       670        680        690        700        710        720 
IFIAHRLSTV VDADEIIVLD QGKVAERGTH HGLLANPHSI YSEMWHTQSS RVQNHDNPKW 

       730        740        750 
EAKKENISKE EERKKLQEEI VNSVKGCGNC SC 

« Hide

Isoform 2 [UniParc].

Checksum: 9B96042C55C3C62F
Show »

FASTA75382,769

References

« Hide 'large scale' references
[1]"Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia."
Shimada Y., Okuno S., Kawai A., Shinomiya H., Saito A., Suzuki M., Omori Y., Nishino N., Kanemoto N., Fujiwara T., Horie M., Takahashi E.
J. Hum. Genet. 43:115-122(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-315 AND ILE-346.
Tissue: Placenta.
[2]"Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)."
Allikmets R., Raskind W.H., Hutchinson A., Schueck N.D., Dean M., Koeller D.M.
Hum. Mol. Genet. 8:743-749(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASAT MET-400.
[3]"Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation."
Bekri S., Kispal G., Lange H., Fitzsimons E., Tolmie J., Lill R., Bishop D.F.
Blood 96:3256-3264(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASAT LYS-433.
[4]"Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H., He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H., Wang Y.-X., Chen S.-J., Chen Z.
Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Umbilical cord blood.
[5]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[6]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Muscle.
[8]"Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p."
Csere P., Lill R., Kispal G.
FEBS Lett. 441:266-270(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-752 (ISOFORM 1).
[9]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-216 AND LYS-251, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L."
Maguire A., Hellier K., Hammans S., May A.
Br. J. Haematol. 115:910-917(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASAT LEU-411, VARIANTS GLY-315 AND ILE-346.
[12]"X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation."
D'Hooghe M., Selleslag D., Mortier G., Van Coster R., Vermeersch P., Billiet J., Bekri S.
Eur. J. Paediatr. Neurol. 16:730-735(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASAT ASP-208.
+Additional computationally mapped references.

Web resources

GeneReviews
ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB005289 mRNA. Translation: BAA28861.1.
AF133659 mRNA. Translation: AAD33045.1.
AF241887 expand/collapse EMBL AC list , 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.
BC006323 mRNA. Translation: AAH06323.1.
AF078777 mRNA. Translation: AAD47141.1.
RefSeqNP_001258625.1. NM_001271696.1.
NP_001258627.1. NM_001271698.1.
NP_004290.2. NM_004299.4.
UniGeneHs.370480.

3D structure databases

ProteinModelPortalO75027.
SMRO75027. Positions 120-738.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106540. 11 interactions.
IntActO75027. 2 interactions.
STRING9606.ENSP00000253577.

Protein family/group databases

TCDB3.A.1.210.4. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteO75027.

Proteomic databases

PaxDbO75027.
PRIDEO75027.

Protocols and materials databases

DNASU22.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000253577; ENSP00000253577; ENSG00000131269. [O75027-2]
ENST00000373394; ENSP00000362492; ENSG00000131269. [O75027-1]
GeneID22.
KEGGhsa:22.
UCSCuc004ebz.4. human. [O75027-2]
uc004eca.4. human. [O75027-1]

Organism-specific databases

CTD22.
GeneCardsGC0XM074189.
H-InvDBHIX0028475.
HGNCHGNC:48. ABCB7.
HPAHPA034982.
MIM300135. gene.
301310. phenotype.
neXtProtNX_O75027.
Orphanet2802. X-linked sideroblastic anemia - ataxia.
PharmGKBPA24389.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5265.
HOVERGENHBG080194.
KOK05662.
OMAVGQHAVR.
OrthoDBEOG7Z69BT.
PhylomeDBO75027.
TreeFamTF105195.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO75027.
BgeeO75027.
CleanExHS_ABCB7.
GenevestigatorO75027.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCB7.
GenomeRNAi22.
NextBio65.
PROO75027.
SOURCESearch...

Entry information

Entry nameABCB7_HUMAN
AccessionPrimary (citable) accession number: O75027
Secondary accession number(s): O75345 expand/collapse secondary AC list , Q5VWY7, Q5VWY8, Q9BRE1, Q9UND1, Q9UP01
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 1, 2000
Last modified: April 16, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM