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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, Mitochondrial 3
  • EC 3.6.3.42 58
  • EST140535 3
  • EC 3.6.3 58
  • 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 Cytosolic iron-sulfur cluster assembly and CDK-mediated phosphorylation and removal of Cdc6. 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

Additional gene information for ABCB7 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH075155 1 ENCODE 12.2 +0.4 350 2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ELK1 ZNF143 YY2 ABCB7 RN7SL648P RAB11FIP1P1 ZDHHC15 ENSG00000271533 GC0XP075081
GH0XH076142 1.1 Ensembl ENCODE dbSUPER 4.4 -987.9 -987857 3 PKNOX1 L3MBTL2 MAX USF2 ZNF223 ZEB2 ZNF384 GLIS1 WT1 ZDHHC15 ABCB7 PIR52738 GC0XP076095
GH0XH075273 1 ENCODE 4.8 -117.8 -117829 2 PKNOX1 ATF1 SIN3A YY1 FOS RUNX3 SP3 NFYC REST MBD2 UPRT ABCB7 GC0XP075324
GH0XH075181 0.2 ENCODE 11.8 -25.2 -25162 1 ABCB7 PBDC1 BUD31P2
GH0XH075115 0.5 ENCODE 0.3 +40.5 40495 1 ZNF316 MAFG NFE2 EMSY GC0XP075081 ABCB7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000247285 632 2200 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ELK1 ZNF143 YY2 ZHX2

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

Selected DME Specific Peptides for ABCB7 Gene

O75027:
  • LSGGEKQR
  • KQRVAIA
  • AIARAILK
  • QRVAIAR

Post-translational modifications for ABCB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ABCB7 Gene

Gene Families for ABCB7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

O75027

UniProtKB/Swiss-Prot:

ABCB7_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
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:0005524 ATP binding IEA --
GO:0015232 heme transporter activity TAS --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ABCB7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCB7 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
cytosol 2
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCB7: view

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:0006879 cellular iron ion homeostasis IBA --
GO:0015886 heme transport IEA --
GO:0055085 transmembrane transport IEA,TAS --
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

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

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

(16) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ABCB7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ABCB7 Gene



Protein tissue co-expression partners for ABCB7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCB7 Gene:

ABCB7

SOURCE GeneReport for Unigene cluster for ABCB7 Gene:

Hs.370480

Evidence on tissue expression from TISSUES for ABCB7 Gene

  • Blood(4.3)
  • Muscle(4.2)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Limb:
  • foot
  • lower limb
General:
  • blood
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with ABCB7: view

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
chimpanzee
(Pan troglodytes)
Mammalia ABCB7 33
  • 98.75 (n)
cow
(Bos Taurus)
Mammalia ABCB7 33 34
  • 94.02 (n)
dog
(Canis familiaris)
Mammalia ABCB7 33 34
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Abcb7 33 16 34
  • 90.96 (n)
rat
(Rattus norvegicus)
Mammalia Abcb7 33
  • 90.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB7 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCB7 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB7 33 34
  • 79.41 (n)
lizard
(Anolis carolinensis)
Reptilia ABCB7 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb7 33
  • 74.72 (n)
Str.19229 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7956 33
zebrafish
(Danio rerio)
Actinopterygii abcb7 33 34
  • 70.83 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4047 33
fruit fly
(Drosophila melanogaster)
Insecta CG7955 35
  • 58 (a)
ABCB7 33 34
  • 57.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006364 33
  • 57.16 (n)
worm
(Caenorhabditis elegans)
Secernentea abtm-1 33 34
  • 55.72 (n)
Y74C10AM.1 35
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATM1 33 34 36
  • 55 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10131g 33
  • 53.3 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL335W 33
  • 52.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATM3 33
  • 58.02 (n)
rice
(Oryza sativa)
Liliopsida Os.10814 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atm1 33
  • 54.5 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05029 33
  • 52.95 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3134 33
Species where no ortholog for ABCB7 was found in the sources mined by GeneCards:
  • 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
rs515726147 Pathogenic, Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] 75,075,593(+) CGAAC(A/T)TCGTT reference, missense
rs72554634 Pathogenic, Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] 75,071,516(-) GGAAT(A/G/T)GTGGC reference, synonymous-codon, missense
rs80356713 Pathogenic, Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] 75,070,499(-) ATCTA(C/G/T)TAATG reference, missense
rs80356714 Pathogenic, Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] 75,070,433(-) ATAGA(A/G)AGACT reference, missense
rs797044558 Pathogenic 75,053,585(-) TTTAG(A/G)GTAAG reference, missense

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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

Disorder Aliases PubMed IDs
anemia, sideroblastic, with ataxia
  • x-linked sideroblastic anemia and ataxia
x-linked sideroblastic anemia with ataxia
  • anemia sideroblastic and spinocerebellar ataxia
sideroblastic anemia
  • anemia sideroblastic
anemia, sideroblastic, 1
  • x-linked sideroblastic anemia
atransferrinemia
  • familial hypotransferrinemia
- 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. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (PMID: 11843825) Maguire A … May A (British journal of haematology 2001) 3 4 22 60
  2. 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 DF (Blood 2000) 3 4 22 60
  3. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (PMID: 10196363) Allikmets R … Koeller DM (Human molecular genetics 1999) 3 4 22 60
  4. 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 22 60
  5. X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. (PMID: 22398176) D'Hooghe M … Bekri S (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2012) 3 4 60

Products for ABCB7 Gene

Sources for ABCB7 Gene

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