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O75027

- ABCB7_HUMAN

UniProt

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: 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei481 – 4811ATPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi505 – 51612ATPPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of substances Source: RefGenome
  2. ATP binding Source: ProtInc
  3. heme transporter activity Source: ProtInc

GO - Biological processi

  1. cellular iron ion homeostasis Source: RefGenome
  2. heme transport Source: GOC
  3. small molecule metabolic process Source: Reactome
  4. transmembrane transport Source: RefGenome
  5. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111108. Mitochondrial ABC transporters.
REACT_160176. 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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:48. ABCB7.

Subcellular locationi

Mitochondrion inner membrane Curated; Multi-pass membrane protein PROSITE-ProRule annotation

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei141 – 16121HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei186 – 20621HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei260 – 28021HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei291 – 31121HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei383 – 40321HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei410 – 43021HelicalPROSITE-ProRule annotationAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: RefGenome
  2. mitochondrial inner membrane Source: UniProtKB
  3. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti208 – 2081E → D in ASAT. 1 Publication
VAR_067354
Natural varianti400 – 4001I → M in ASAT. 1 Publication
VAR_009156
Natural varianti411 – 4111V → L in ASAT. 1 Publication
VAR_022874
Natural varianti433 – 4331E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 Publication
VAR_012640

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2222MitochondrionSequence AnalysisAdd
BLAST
Chaini23 – 752730ATP-binding cassette sub-family B member 7, mitochondrialPRO_0000000249Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei216 – 2161N6-acetyllysine1 Publication
Modified residuei251 – 2511N6-acetyllysine1 Publication
Modified residuei336 – 3361PhosphoserineBy similarity
Modified residuei340 – 3401PhosphotyrosineBy similarity
Modified residuei342 – 3421PhosphothreonineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiO75027.
PaxDbiO75027.
PRIDEiO75027.

PTM databases

PhosphoSiteiO75027.

Expressioni

Gene expression databases

BgeeiO75027.
CleanExiHS_ABCB7.
ExpressionAtlasiO75027. baseline and differential.
GenevestigatoriO75027.

Organism-specific databases

HPAiHPA034982.

Interactioni

Subunit structurei

Homodimer or heterodimer.Curated

Protein-protein interaction databases

BioGridi106540. 12 interactions.
IntActiO75027. 2 interactions.
STRINGi9606.ENSP00000253577.

Structurei

3D structure databases

ProteinModelPortaliO75027.
SMRiO75027. Positions 127-738.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini140 – 436297ABC transmembrane type-1PROSITE-ProRule annotationAdd
BLAST
Domaini472 – 706235ABC transporterPROSITE-ProRule annotationAdd
BLAST

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

eggNOGiCOG5265.
GeneTreeiENSGT00440000033373.
HOVERGENiHBG080194.
InParanoidiO75027.
KOiK05662.
OMAiMHQLSLR.
OrthoDBiEOG7Z69BT.
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.
IPR001140. ABC_transptr_TM_dom.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti141 – 1411A → P in AAC39865. (PubMed:9653160)Curated
Sequence conflicti258 – 2581R → K in BAA28861. (PubMed:9621516)Curated
Sequence conflicti271 – 2766LLPIMF → PLPNHV in AAC39865. (PubMed:9653160)Curated
Sequence conflicti280 – 2801L → LL in AAC39865. (PubMed:9653160)Curated
Sequence conflicti290 – 2901G → C in AAC39865. (PubMed:9653160)Curated
Sequence conflicti293 – 2975FALVT → LLGN in AAC39865. (PubMed:9653160)Curated
Sequence conflicti320 – 3245IEMNK → LEIDQ in AAC39865. (PubMed:9653160)Curated
Sequence conflicti542 – 5421E → V in AAD47141. (PubMed:9883897)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti208 – 2081E → D in ASAT. 1 Publication
VAR_067354
Natural varianti315 – 3151R → G.2 Publications
VAR_022872
Natural varianti346 – 3461F → I.2 Publications
VAR_022873
Natural varianti400 – 4001I → M in ASAT. 1 Publication
VAR_009156
Natural varianti411 – 4111V → L in ASAT. 1 Publication
VAR_022874
Natural varianti433 – 4331E → K in ASAT; impaired maturation of cytosolic Fe/S proteins. 1 Publication
VAR_012640
Natural varianti580 – 5801A → V.
Corresponds to variant rs1340989 [ dbSNP | Ensembl ].
VAR_055471
Natural varianti581 – 5811V → A.
Corresponds to variant rs1340989 [ dbSNP | Ensembl ].
VAR_037972

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei56 – 561Q → QQ in isoform 2. 2 PublicationsVSP_014635
Alternative sequencei112 – 15140Missing in isoform 3. CuratedVSP_054700Add
BLAST

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.4. human. [O75027-2]
uc004eca.4. human. [O75027-1]
uc010nlt.4. human.

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 .
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_001258627.1. NM_001271698.1.
NP_004290.2. NM_004299.4. [O75027-2 ]
UniGenei Hs.370480.

3D structure databases

ProteinModelPortali O75027.
SMRi O75027. Positions 127-738.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106540. 12 interactions.
IntActi O75027. 2 interactions.
STRINGi 9606.ENSP00000253577.

Protein family/group databases

TCDBi 3.A.1.210.4. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei O75027.

Proteomic databases

MaxQBi O75027.
PaxDbi O75027.
PRIDEi O75027.

Protocols and materials databases

DNASUi 22.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000253577 ; ENSP00000253577 ; ENSG00000131269 . [O75027-2 ]
ENST00000339447 ; ENSP00000343849 ; ENSG00000131269 . [O75027-3 ]
ENST00000373394 ; ENSP00000362492 ; ENSG00000131269 . [O75027-1 ]
GeneIDi 22.
KEGGi hsa:22.
UCSCi uc004ebz.4. human. [O75027-2 ]
uc004eca.4. human. [O75027-1 ]
uc010nlt.4. human.

Organism-specific databases

CTDi 22.
GeneCardsi GC0XM074189.
GeneReviewsi ABCB7.
H-InvDB HIX0028475.
HGNCi HGNC:48. ABCB7.
HPAi HPA034982.
MIMi 300135. gene.
301310. phenotype.
neXtProti NX_O75027.
Orphaneti 2802. X-linked sideroblastic anemia with ataxia.
PharmGKBi PA24389.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5265.
GeneTreei ENSGT00440000033373.
HOVERGENi HBG080194.
InParanoidi O75027.
KOi K05662.
OMAi MHQLSLR.
OrthoDBi EOG7Z69BT.
PhylomeDBi O75027.
TreeFami TF105195.

Enzyme and pathway databases

Reactomei REACT_111108. Mitochondrial ABC transporters.
REACT_160176. Cytosolic iron-sulfur cluster assembly.

Miscellaneous databases

ChiTaRSi ABCB7. human.
GeneWikii ABCB7.
GenomeRNAii 22.
NextBioi 35517837.
PROi O75027.
SOURCEi Search...

Gene expression databases

Bgeei O75027.
CleanExi HS_ABCB7.
ExpressionAtlasi O75027. baseline and differential.
Genevestigatori O75027.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR003593. 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 ]
Pfami PF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view ]
SMARTi SM00382. AAA. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
SSF90123. SSF90123. 1 hit.
PROSITEi PS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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.
  9. "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).
  10. "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].
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "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.
  13. "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.

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 26, 2014
This is version 145 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

External Data

Dasty 3