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 ... See more...

Aliases for ABCB7 Gene

Aliases for ABCB7 Gene

  • ATP Binding Cassette Subfamily B Member 7 2 3 5
  • ATP-Binding Cassette Sub-Family B Member 7, Mitochondrial 3 4
  • 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
  • EC 3.6.3.42 54
  • EST140535 3
  • EC 3.6.3 54
  • 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, And Spinocerebellar Ataxia and Sideroblastic Anemia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ATPase activity and heme transporter activity. An important paralog of this gene is ABCB6.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ABCB7 Gene

Genomics for ABCB7 Gene

GeneHancer (GH) Regulatory Elements for ABCB7 Gene

Promoters and enhancers for ABCB7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ075155 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 762.1 +0.7 732 3.2 ZBTB40 POLR2A USF2 NR2F6 MYC ELF1 ZKSCAN8 ZBTB33 NKRF GTF2F1 ABCB7 UPRT RAB11FIP1P1 RN7SL648P PABPC1P3 ZDHHC15 ENSG00000271533 piR-38580-411
GH0XJ075273 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 -117.9 -117869 3.2 SP1 RBPJ POLR2A ATF1 CREB1 NFYC MAX ZNF652 ZNF280D NKRF UPRT ABCB7 piR-56883-202 HSALNG0138658
GH0XJ074603 Enhancer 0.5 Ensembl 7.1 +552.0 552031 4.6 POLR2A TCF7L2 STAT1 FOXA1 ZNF664 PRDM6 ABCB7 UPRT RF01045-159 RLIM
GH0XJ076145 Enhancer 0.7 ENCODE dbSUPER 4.4 -989.5 -989496 0.7 USF2 MNT ZNF384 ZEB2 PKNOX1 MAX WT1 ZNF335 ZNF223 GLIS1 piR-58739-001 piR-56580-056 ENSG00000232186 ZDHHC15 ABCB7 lnc-MAGEE2-1
GH0XJ075131 Enhancer 0.2 Ensembl 11.8 +24.3 24331 1.2 ABCB7 UPRT piR-38580-411
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCB7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCB7 gene promoter:
  • E47
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • IRF-2
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for ABCB7 Gene

Genomic Locations for ABCB7 Gene
chrX:75,051,048-75,156,732
(GRCh38/hg38)
Size:
105,685 bases
Orientation:
Minus strand
chrX:74,273,105-74,376,567
(GRCh37/hg19)
Size:
103,463 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

Suggested Antigen Peptide Sequences for ABCB7 Gene

GenScript: Design optimal peptide antigens:
  • ATP-binding cassette transporter 7 (ABCB7_HUMAN)
  • cDNA FLJ53391, highly similar to ATP-binding cassette sub-family B member 7, mitochondrial (B4DGL8_HUMAN)

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

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.
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

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 9621516
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA,IEA 21873635
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

miRNA for ABCB7 Gene

miRTarBase miRNAs that target ABCB7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB7

Clone Products

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 2
cytosol 2
nucleus 1
peroxisome 0

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:0005623 cell IEA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
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:0006879 cellular iron ion homeostasis IBA 21873635
GO:0015886 heme transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA,TAS --
GO:0099131 ATP hydrolysis coupled ion transmembrane transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1452
heme Pharma Agonist 0

(15) Additional Compounds for ABCB7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCB7: view

Transcripts for ABCB7 Gene

mRNA/cDNA for ABCB7 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB7

Clone Products

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, 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
Regions:
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

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 32
  • 98.75 (n)
cow
(Bos Taurus)
Mammalia ABCB7 33 32
  • 94.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB7 33 32
  • 92.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb7 17 33 32
  • 90.96 (n)
rat
(Rattus norvegicus)
Mammalia Abcb7 32
  • 90.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB7 33
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCB7 33
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB7 33 32
  • 79.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCB7 33
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb7 32
  • 74.72 (n)
Str.19229 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.7956 32
zebrafish
(Danio rerio)
Actinopterygii abcb7 33 32
  • 70.83 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4047 32
fruit fly
(Drosophila melanogaster)
Insecta CG7955 34
  • 58 (a)
ABCB7 33 32
  • 57.79 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006364 32
  • 57.16 (n)
worm
(Caenorhabditis elegans)
Secernentea abtm-1 33 32
  • 55.72 (n)
OneToOne
Y74C10AM.1 34
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATM1 35 33 32
  • 55 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10131g 32
  • 53.3 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL335W 32
  • 52.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATM3 32
  • 58.02 (n)
rice
(Oryza sativa)
Liliopsida Os.10814 32
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atm1 32
  • 54.5 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05029 32
  • 52.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.3134 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3134 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCB7: view image

Paralogs for ABCB7 Gene

(13) SIMAP similar genes for ABCB7 Gene using alignment to 5 proteins:

  • ABCB7_HUMAN
  • B4DGL8_HUMAN
  • E9PJR8_HUMAN
  • E9PNQ5_HUMAN
  • G3XAC4_HUMAN
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 Variation AA Info Type
rs1057515989 uncertain-significance, Sideroblastic Anemia and Ataxia 75,156,092(-) A/G intron_variant
rs1057518042 likely-pathogenic, not provided, Anemia sideroblastic and spinocerebellar ataxia 75,070,495(-) A/G coding_sequence_variant, missense_variant
rs1340989 benign, not specified, Sideroblastic Anemia and Ataxia, -, - 75,065,162(-) G/A coding_sequence_variant, missense_variant
rs1340990 benign, not specified, Sideroblastic Anemia and Ataxia, not provided 75,065,161(-) T/C coding_sequence_variant, synonymous_variant
rs140031135 benign, not specified, Sideroblastic Anemia and Ataxia 75,112,907(-) G/A coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for ABCB7 Gene

Human Gene Mutation Database (HGMD)
ABCB7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB7

SNP Genotyping and Copy Number Assay Products

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

(17) MalaCards diseases for ABCB7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for ABCB7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 56
  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 23 56
  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 23 56
  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 23 56
  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 56

Products for ABCB7 Gene

Sources for ABCB7 Gene