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
  • EST140535 2 3
  • Atm1p 2 3
  • ABC7 3 4
  • ASAT 2 3
  • EC 3.6.3.42 51
  • EC 3.6.3 51
  • ABCB7 5

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 Regulation of activated PAK-2p34 by proteasome mediated degradation and Metabolism. 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

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 Pubs

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 612.1 +0.7 732 3.2 ZNF629 POLR2A GABPA PRDM1 ZNF143 RBFOX2 PKNOX1 ZNF24 IRF2 REST ABCB7 UPRT RN7SL648P RAB11FIP1P1 ZDHHC15 ENSG00000271533 piR-38580-411 NEXMIF
GH0XJ075273 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 -117.9 -117869 3.2 SP1 CREB1 PRDM10 ZNF629 REST RFX1 ZNF692 PRDM1 DDX20 ZIC2 UPRT TTC3P1 ZDHHC15 ABCB7 piR-56883-202 HSALNG0138658
GH0XJ076145 Enhancer 0.8 ENCODE dbSUPER 4.4 -989.5 -989496 0.7 PKNOX1 ZBTB40 MAX WT1 ZNF335 USF2 ZNF223 GLIS1 BHLHE40 MNT piR-58739-001 piR-56580-056 ZDHHC15 ABCB7 LOC107985665 lnc-MAGEE2-1 PBDC1 MN309174-703 MAGEE2
GH0XJ074603 Enhancer 0.5 Ensembl 7 +552.0 552031 4.6 POLR2A STAT1 FOXA1 PRDM6 ZNF664 TCF7L2 ABCB7 UPRT RF01045-159 RLIM SLC16A2
GH0XJ075131 Enhancer 0.2 Ensembl 11.8 +24.3 24331 1.2 ABCB7 UPRT piR-38580-411 NEXMIF
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCB7

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. Interacts with C10orf88/PAAT (PubMed:25063848).

    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

Phenotypes From GWAS Catalog for ABCB7 Gene

Gene Ontology (GO) - Molecular Function for ABCB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 25063848
GO:0005524 ATP binding IEA --
GO:0015232 heme transporter activity TAS 9621516
GO:0016887 ATPase activity 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

miRNA for ABCB7 Gene

miRTarBase miRNAs that target ABCB7

Inhibitory RNA Products

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

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
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
peroxisome 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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:0005623 cell IEA --
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:0006879 cellular iron ion homeostasis IBA 21873635
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
Iron Approved, Experimental Pharma 1560
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

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for ABCB7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCB7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCB7

SOURCE GeneReport for Unigene cluster for ABCB7 Gene:

Hs.370480

Evidence on tissue expression from TISSUES for ABCB7 Gene

  • Muscle(4.5)
  • Blood(4.4)
  • Nervous system(2.9)
  • Liver(2.5)
  • Skin(2.2)
  • Heart(2.2)
  • Bone marrow(2.2)
  • Kidney(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 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 30
  • 98.75 (n)
Cow
(Bos Taurus)
Mammalia ABCB7 30 31
  • 94.02 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCB7 30 31
  • 92.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abcb7 30 17 31
  • 90.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abcb7 30
  • 90.12 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ABCB7 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ABCB7 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABCB7 30 31
  • 79.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABCB7 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abcb7 30
  • 74.72 (n)
Str.19229 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7956 30
Zebrafish
(Danio rerio)
Actinopterygii abcb7 30 31
  • 70.83 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4047 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7955 32
  • 58 (a)
ABCB7 30 31
  • 57.79 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006364 30
  • 57.16 (n)
Worm
(Caenorhabditis elegans)
Secernentea abtm-1 30 31
  • 55.72 (n)
OneToOne
Y74C10AM.1 32
  • 54 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATM1 30 31 33 33
  • 55 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10131g 30
  • 53.3 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL335W 30
  • 52.6 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ATM3 30
  • 58.02 (n)
Rice
(Oryza sativa)
Liliopsida Os.10814 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atm1 30
  • 54.5 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05029 30
  • 52.95 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3134 30
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 Squirt (Ciona savignyi)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCB7 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
654310 Uncertain Significance: not provided 75,071,517(-) A/G MISSENSE_VARIANT
671642 Benign: not provided 75,060,439(-) G/GT INTRON_VARIANT
677918 Benign: not provided 75,075,810(-) C/T INTRON_VARIANT
678942 Likely Benign: not provided 75,065,017(-) T/TA INTRON_VARIANT
711144 Benign: not provided 75,071,630(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ABCB7 Gene

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

(23) MalaCards diseases for ABCB7 Gene - From: UniProtKB/Swiss-Prot, 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]: An 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
Open Targets Platform
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
  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
  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
  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
  5. PAAT, a novel ATPase and trans-regulator of mitochondrial ABC transporters, is critically involved in the maintenance of mitochondrial homeostasis. (PMID: 25063848) Yang X … Liang J (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2014) 3 4

Products for ABCB7 Gene

  • Signalway Proteins for ABCB7

Sources for ABCB7 Gene