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Aliases for ABCB7 Gene

Aliases for ABCB7 Gene

  • ATP Binding Cassette Subfamily B Member 7 2 3 5
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 7 2 3
  • ATP-Binding Cassette Transporter 7 3 4
  • ABC Transporter 7 Protein 3 4
  • ABC7 3 4
  • ATP-Binding Cassette Sub-Family B Member 7 3
  • EC 3.6.3.42 63
  • EST140535 3
  • EC 3.6.3 63
  • Atm1p 3
  • ASAT 3

External Ids for ABCB7 Gene

Previous HGNC Symbols for ABCB7 Gene

  • ABC7

Previous GeneCards Identifiers for ABCB7 Gene

  • GC0XM070074
  • GC0XM071447
  • GC0XM072487
  • GC0XM073139
  • GC0XM074056
  • GC0XM074189
  • GC0XM067906

Summaries for ABCB7 Gene

Entrez Gene Summary for ABCB7 Gene

  • The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

GeneCards Summary for ABCB7 Gene

ABCB7 (ATP Binding Cassette Subfamily B Member 7) is a Protein Coding gene. Diseases associated with ABCB7 include Anemia, Sideroblastic, With Ataxia and X-Linked Sideroblastic Anemia With Ataxia. Among its related pathways are Metabolism and ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity and heme transporter activity. An important paralog of this gene is ABCB6.

UniProtKB/Swiss-Prot for ABCB7 Gene

  • 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.

Gene Wiki entry for ABCB7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB7 Gene

Genomics for ABCB7 Gene

Regulatory Elements for ABCB7 Gene

Enhancers for ABCB7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCB7 on UCSC Golden Path with GeneCards custom track

Promoters for ABCB7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCB7 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCB7 Gene

Chromosome:
X
Start:
75,053,172 bp from pter
End:
75,156,732 bp from pter
Size:
103,561 bases
Orientation:
Minus strand

Genomic View for ABCB7 Gene

Genes around ABCB7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB7 Gene

Proteins for ABCB7 Gene

  • Protein details for ABCB7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75027-ABCB7_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 7, mitochondrial
    Protein Accession:
    O75027
    Secondary Accessions:
    • G3XAC4
    • O75345
    • Q5VWY7
    • Q5VWY8
    • Q9BRE1
    • Q9UND1
    • Q9UP01

    Protein attributes for ABCB7 Gene

    Size:
    752 amino acids
    Molecular mass:
    82641 Da
    Quaternary structure:
    • Homodimer or heterodimer.

    Alternative splice isoforms for ABCB7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB7 Gene

Proteomics data for ABCB7 Gene at MOPED

Selected DME Specific Peptides for ABCB7 Gene

Post-translational modifications for ABCB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ABCB7

Domains & Families for ABCB7 Gene

Gene Families for ABCB7 Gene

Protein Domains for ABCB7 Gene

Graphical View of Domain Structure for InterPro Entry

O75027

UniProtKB/Swiss-Prot:

ABCB7_HUMAN :
  • Contains 1 ABC transmembrane type-1 domain.
  • Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
Domain:
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
genes like me logo Genes that share domains with ABCB7: view

Function for ABCB7 Gene

Molecular function for ABCB7 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 7,mouse ABC7 and yeast Atm1p homolog,ubiquitously expressed,located in the mitochondrial inner membrane
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ABCB7 Gene

Gene Ontology (GO) - Molecular Function for ABCB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015232 heme transporter activity TAS --
genes like me logo Genes that share ontologies with ABCB7: view
genes like me logo Genes that share phenotypes with ABCB7: view

Human Phenotype Ontology for ABCB7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCB7 Gene

MGI Knock Outs for ABCB7:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for ABCB7 Gene

Localization for ABCB7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB7 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB7 Gene COMPARTMENTS Subcellular localization image for ABCB7 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
cytosol 2
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ABCB7 Gene

Pathways & Interactions for ABCB7 Gene

genes like me logo Genes that share pathways with ABCB7: view

Gene Ontology (GO) - Biological Process for ABCB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 9621516
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ABCB7: view

No data available for SIGNOR curated interactions for ABCB7 Gene

Drugs & Compounds for ABCB7 Gene

(26) Drugs for ABCB7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

(19) Additional Compounds for ABCB7 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with ABCB7: view

Transcripts for ABCB7 Gene

Unigene Clusters for ABCB7 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a · 16b
SP1: -
SP2: -
SP3: - -
SP4:
SP5: - - -

Relevant External Links for ABCB7 Gene

GeneLoc Exon Structure for
ABCB7
ECgene alternative splicing isoforms for
ABCB7

Expression for ABCB7 Gene

mRNA expression in normal human tissues for ABCB7 Gene

Protein differential expression in normal tissues from HIPED for ABCB7 Gene

This gene is overexpressed in Nasal epithelium (34.8) and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCB7 Gene



SOURCE GeneReport for Unigene cluster for ABCB7 Gene Hs.370480

genes like me logo Genes that share expression patterns with ABCB7: view

Protein tissue co-expression partners for ABCB7 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ABCB7 Gene

Orthologs for ABCB7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCB7 35
  • 94.02 (n)
  • 93.48 (a)
ABCB7 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB7 35
  • 92.77 (n)
  • 92.69 (a)
ABCB7 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb7 35
  • 90.96 (n)
  • 92.29 (a)
Abcb7 16
Abcb7 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCB7 35
  • 98.75 (n)
  • 98.29 (a)
rat
(Rattus norvegicus)
Mammalia Abcb7 35
  • 90.12 (n)
  • 92.55 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCB7 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB7 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB7 35
  • 79.41 (n)
  • 83.33 (a)
ABCB7 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCB7 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb7 35
  • 74.72 (n)
  • 83.55 (a)
Str.19229 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7956 35
zebrafish
(Danio rerio)
Actinopterygii abcb7 35
  • 70.83 (n)
  • 79.65 (a)
abcb7 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4047 35
fruit fly
(Drosophila melanogaster)
Insecta CG7955 37
  • 58 (a)
ABCB7 35
  • 57.79 (n)
  • 59.17 (a)
ABCB7 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006364 35
  • 57.16 (n)
  • 60.16 (a)
worm
(Caenorhabditis elegans)
Secernentea Y74C10AM.1 37
  • 54 (a)
abtm-1 35
  • 55.72 (n)
  • 54.01 (a)
abtm-1 36
  • 51 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL335W 35
  • 52.6 (n)
  • 49.34 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10131g 35
  • 53.3 (n)
  • 49.75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATM1 35
  • 55 (n)
  • 51.38 (a)
ATM1 36
  • 45 (a)
OneToMany
ATM1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATM3 35
  • 58.02 (n)
  • 56.36 (a)
rice
(Oryza sativa)
Liliopsida Os.10814 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3134 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05029 35
  • 52.95 (n)
  • 51.4 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atm1 35
  • 54.5 (n)
  • 50.42 (a)
Species with no ortholog for ABCB7:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCB7 Gene

ENSEMBL:
Gene Tree for ABCB7 (if available)
TreeFam:
Gene Tree for ABCB7 (if available)

Paralogs for ABCB7 Gene

Paralogs for ABCB7 Gene

genes like me logo Genes that share paralogs with ABCB7: view

Variants for ABCB7 Gene

Sequence variations from dbSNP and Humsavar for ABCB7 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_009156 Anemia, sideroblastic, spinocerebellar ataxia (ASAT)
VAR_012640 Anemia, sideroblastic, spinocerebellar ataxia (ASAT)
VAR_022872 -
VAR_022873 -
VAR_022874 Anemia, sideroblastic, spinocerebellar ataxia (ASAT)

Variation tolerance for ABCB7 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCB7 Gene

Human Gene Mutation Database (HGMD)
ABCB7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ABCB7 Gene

Disorders for ABCB7 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ABCB7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anemia, sideroblastic, with ataxia
  • asat
x-linked sideroblastic anemia with ataxia
  • anemia sideroblastic and spinocerebellar ataxia
sideroblastic anemia
  • anemia sideroblastic
anemia, sideroblastic, x-linked
  • x-linked sideroblastic anemia
alcohol abuse
  • alcoholism
- elite association - COSMIC cancer census association via MalaCards
Search ABCB7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCB7_HUMAN
  • 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. {ECO:0000269 PubMed:10196363, ECO:0000269 PubMed:11050011, ECO:0000269 PubMed:11843825, ECO:0000269 PubMed:22398176}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCB7

Genetic Association Database (GAD)
ABCB7
Human Genome Epidemiology (HuGE) Navigator
ABCB7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB7
genes like me logo Genes that share disorders with ABCB7: view

No data available for Genatlas for ABCB7 Gene

Publications for ABCB7 Gene

  1. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron- sulfur protein maturation. (PMID: 11050011) Bekri S. … Bishop D.F. (Blood 2000) 3 4 23 67
  2. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. (PMID: 9143506) Savary S. … Chimini G. (Genomics 1997) 2 3 23
  3. The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. (PMID: 18398482) Boultwood J. … Wainscoat J.S. (PLoS ONE 2008) 3 23
  4. Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. (PMID: 12480705) Taketani S. … Furukawa T. (Blood 2003) 3 23
  5. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (PMID: 11843825) Maguire A. … May A. (Br. J. Haematol. 2001) 3 23

Products for ABCB7 Gene

Sources for ABCB7 Gene

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