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Aliases for ABCB6 Gene

Aliases for ABCB6 Gene

  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 (Langereis Blood Group) 2 3
  • MTABC3 3 4 6
  • Ubiquitously-Expressed Mammalian ABC Half Transporter 3 4
  • ATP-Binding Cassette Half-Transporter 2 3
  • Mitochondrial ABC Transporter 3 3 4
  • P-Glycoprotein-Related Protein 3 4
  • Mt-ABC Transporter 3 3 4
  • MCOPCB7 3 6
  • Umat 3 4
  • DUH3 3 6
  • PRP 3 4
  • LAN 3 6
  • ATP-Binding Cassette Sub-Family B Member 6, Mitochondrial 3
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 2
  • EC 3.6.3 63
  • ABC14 3
  • ABC 3

External Ids for ABCB6 Gene

Previous GeneCards Identifiers for ABCB6 Gene

  • GC02M218090
  • GC02M218795
  • GC02M220038
  • GC02M220277
  • GC02M219899
  • GC02M219782
  • GC02M211927
  • GC02M220075

Summaries for ABCB6 Gene

Entrez Gene Summary for ABCB6 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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCB6 Gene

ABCB6 (ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 (Langereis Blood Group)) is a Protein Coding gene. Diseases associated with ABCB6 include microphthalmia, isolated, with coloboma 7 and dyschromatosis universalis hereditaria 3. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include heme binding and efflux transmembrane transporter activity. An important paralog of this gene is ABCB7.

UniProtKB/Swiss-Prot for ABCB6 Gene

  • Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.

Gene Wiki entry for ABCB6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB6 Gene

Genomics for ABCB6 Gene

Regulatory Elements for ABCB6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABCB6 Gene

Start:
219,209,766 bp from pter
End:
219,218,990 bp from pter
Size:
9,225 bases
Orientation:
Minus strand

Genomic View for ABCB6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB6 Gene

Proteins for ABCB6 Gene

  • Protein details for ABCB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP58-ABCB6_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 6, mitochondrial
    Protein Accession:
    Q9NP58
    Secondary Accessions:
    • O75542
    • Q49A66
    • Q59GQ5
    • Q6ZME6
    • Q96ME8
    • Q9HAQ6
    • Q9HAQ7

    Protein attributes for ABCB6 Gene

    Size:
    842 amino acids
    Molecular mass:
    93886 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis
    SequenceCaution:
    • Sequence=AAG33617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAG33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABCB6 Gene

    Alternative splice isoforms for ABCB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB6 Gene

Proteomics data for ABCB6 Gene at MOPED

Selected DME Specific Peptides for ABCB6 Gene

Post-translational modifications for ABCB6 Gene

  • Ubiquitination at Lys482
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCB6 Gene

Domains for ABCB6 Gene

Gene Families for ABCB6 Gene

HGNC:
  • ABCB :ATP binding cassette transporters / subfamily B
IUPHAR :

Protein Domains for ABCB6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP58

UniProtKB/Swiss-Prot:

ABCB6_HUMAN :
  • Q9NP58
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 ABCB6: view

Function for ABCB6 Gene

Molecular function for ABCB6 Gene

GENATLAS Biochemistry: ATP binding cassette superfamily,subfamily B (MDR/TAP),member 6
UniProtKB/Swiss-Prot Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.
UniProtKB/Swiss-Prot Induction: Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level).

Enzyme Numbers (IUBMB) for ABCB6 Gene

Gene Ontology (GO) - Molecular Function for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IDA 10837493
GO:0015232 heme transporter activity TAS --
GO:0015439 heme-transporting ATPase activity IMP 17006453
GO:0015562 efflux transmembrane transporter activity IDA 17661442
GO:0016887 ATPase activity --
genes like me logo Genes that share ontologies with ABCB6: view

Phenotypes for ABCB6 Gene

genes like me logo Genes that share phenotypes with ABCB6: view

Animal Models for ABCB6 Gene

MGI Knock Outs for ABCB6:

Animal Model Products

CRISPR Products

miRNA for ABCB6 Gene

miRTarBase miRNAs that target ABCB6

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCB6

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for ABCB6 Gene

Localization for ABCB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB6 Gene

Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Endosome. Note=localized to the endosome-like compartement and dendrite tips.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB6 Gene COMPARTMENTS Subcellular localization image for ABCB6 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 5
plasma membrane 5
vacuole 3
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 NOT mitochondrion IDA 18279659
GO:0005740 mitochondrial envelope IDA 10837493
GO:0005741 mitochondrial outer membrane TAS --
GO:0005768 endosome ISS --
GO:0005783 endoplasmic reticulum IDA 22226084
genes like me logo Genes that share ontologies with ABCB6: view

Pathways for ABCB6 Gene

genes like me logo Genes that share pathways with ABCB6: view

Pathways by source for ABCB6 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABCB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006779 porphyrin-containing compound biosynthetic process IDA 17006453
GO:0006810 transport IDA 10837493
GO:0006879 cellular iron ion homeostasis NAS 11977179
GO:0007420 brain development IMP 22100072
genes like me logo Genes that share ontologies with ABCB6: view

Compounds for ABCB6 Gene

(1) HMDB Compounds for ABCB6 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8

(8) Novoseek inferred chemical compound relationships for ABCB6 Gene

Compound -log(P) Hits PubMed IDs
mitoxantrone 73.4 5
flavopiridol 64.3 2
irinotecan 61.1 2
topotecan 58.4 1
camptothecin 52.7 2
genes like me logo Genes that share compounds with ABCB6: view

Transcripts for ABCB6 Gene

mRNA/cDNA for ABCB6 Gene

Unigene Clusters for ABCB6 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 6:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCB6

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - - -
SP2: - - - - - -
SP3: -
SP4:
SP5: - - - - -
SP6: - - -
SP7: -
SP8:
SP9: - - -
SP10:

ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ABCB6 Gene

GeneLoc Exon Structure for
ABCB6
ECgene alternative splicing isoforms for
ABCB6

Expression for ABCB6 Gene

mRNA expression in normal human tissues for ABCB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCB6 Gene

SOURCE GeneReport for Unigene cluster for ABCB6 Gene Hs.107911

mRNA Expression by UniProt/SwissProt for ABCB6 Gene

Q9NP58-ABCB6_HUMAN
Tissue specificity: Widely expressed. High expression is detected in the retinal epithelium.
genes like me logo Genes that share expressions with ABCB6: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ABCB6 Gene

Orthologs for ABCB6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCB6 35
  • 99.49 (n)
  • 99.64 (a)
ABCB6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCB6 35
  • 88.56 (n)
  • 89.39 (a)
ABCB6 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB6 35
  • 89.96 (n)
  • 89.25 (a)
ABCB6 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb6 35
  • 86.95 (n)
  • 89.38 (a)
Abcb6 16
Abcb6 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCB6 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB6 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb6 35
  • 86.83 (n)
  • 88.38 (a)
chicken
(Gallus gallus)
Aves ABCB6 35
  • 69.36 (n)
  • 66.55 (a)
ABCB6 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCB6 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb6 35
  • 63.64 (n)
  • 64.57 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb6a 35
  • 65.32 (n)
  • 65.45 (a)
abcb6a 36
  • 62 (a)
OneToMany
abcb6b 36
  • 67 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002278 35
  • 57.76 (n)
  • 52.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hmt-1 35
  • 56.18 (n)
  • 52.49 (a)
Hmt-1 36
  • 48 (a)
OneToOne
CG4225 37
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea hmt-1 35
  • 55.31 (n)
  • 55.99 (a)
hmt-1 36
  • 44 (a)
OneToOne
W09D6.6 37
  • 58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATM1 36
  • 36 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00010 35
  • 50.53 (n)
  • 43.59 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hmt1 35
  • 48.53 (n)
  • 46.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToOne
Species with no ortholog for ABCB6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCB6 Gene

ENSEMBL:
Gene Tree for ABCB6 (if available)
TreeFam:
Gene Tree for ABCB6 (if available)

Paralogs for ABCB6 Gene

Paralogs for ABCB6 Gene

genes like me logo Genes that share paralogs with ABCB6: view

Variants for ABCB6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB6 Gene

Q9NP58-ABCB6_HUMAN
Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features

Sequence variations from dbSNP and Humsavar for ABCB6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1109866 -- 219,218,557(+) GTCCC(C/T)AGAGC synonymous-codon, reference
rs1109867 -- 219,218,731(+) GGACT(G/T)GTCAC utr-variant-5-prime
rs2139823 -- 219,213,774(+) AGGCC(C/T)CAGGC intron-variant
rs2293080 -- 219,214,059(+) TCTTG(A/G)CCCTG intron-variant
rs2385398 -- 219,217,368(-) GCGCC(C/T)GGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCB6 Gene

Variant ID Type Subtype PubMed ID
nsv875869 CNV Loss 21882294
nsv875870 CNV Gain+Loss 21882294

Relevant External Links for ABCB6 Gene

HapMap Linkage Disequilibrium report
ABCB6
Human Gene Mutation Database (HGMD)
ABCB6

Disorders for ABCB6 Gene

(3) OMIM Diseases for ABCB6 Gene (605452)

UniProtKB/Swiss-Prot

ABCB6_HUMAN
  • Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269 PubMed:22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269 PubMed:23519333, ECO:0000269 PubMed:24224009, ECO:0000269 PubMed:24498303}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570). {ECO:0000269 PubMed:23180570}.

(3) University of Copenhagen DISEASES for ABCB6 Gene

(4) Novoseek inferred disease relationships for ABCB6 Gene

Disease -log(P) Hits PubMed IDs
adrenoleukodystrophy 71.8 2
cystic fibrosis 25.8 1
breast cancer 21.6 3
cancer 14.1 3

Relevant External Links for ABCB6

Genetic Association Database (GAD)
ABCB6
Human Genome Epidemiology (HuGE) Navigator
ABCB6
genes like me logo Genes that share disorders with ABCB6: view

Publications for ABCB6 Gene

  1. Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6. (PMID: 11955620) Emadi-Konjin H.-P. … Furuya K.N. (Biochim. Biophys. Acta 2002) 3 4 23
  2. ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. (PMID: 11977179) VisapAoAo I. … Peltonen L. (Am. J. Med. Genet. 2002) 3 23 48
  3. MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. (PMID: 10837493) Mitsuhashi N. … Seino S. (J. Biol. Chem. 2000) 3 4 23
  4. Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus. (PMID: 18279659) Tsuchida M. … Sakaguchi M. (Biochem. Biophys. Res. Commun. 2008) 3 4 23
  5. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PMID: 8894702) Allikmets R. … Dean M. (Hum. Mol. Genet. 1996) 2 3

Products for ABCB6 Gene

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