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Aliases for ABCB8 Gene

Aliases for ABCB8 Gene

  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 8 2 3
  • MABC1 3 4 6
  • Mitochondrial ATP-Binding Cassette 1 3 4
  • Mitochondrial ABC Protein 2 3
  • M-ABC1 3 4
  • ATP-Binding Cassette Sub-Family B Member 8, Mitochondrial 3
  • EST328128 3
  • EC 3.6.3 64

External Ids for ABCB8 Gene

Summaries for ABCB8 Gene

Entrez Gene Summary for ABCB8 Gene

  • This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for ABCB8 Gene

ABCB8 (ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 8) is a Protein Coding gene. 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 transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is TAP1.

Gene Wiki entry for ABCB8 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB8 Gene

Genomics for ABCB8 Gene

Genomic Location for ABCB8 Gene

Start:
151,028,422 bp from pter
End:
151,047,782 bp from pter
Size:
19,361 bases
Orientation:
Plus strand

Genomic View for ABCB8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB8 Gene

Regulatory Elements for ABCB8 Gene

Proteins for ABCB8 Gene

  • Protein details for ABCB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUT2-ABCB8_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 8, mitochondrial
    Protein Accession:
    Q9NUT2
    Secondary Accessions:
    • A5D8W3
    • B2RBL8
    • B3KND2
    • B4DG02
    • G3XAP3
    • O95787
    • Q53GM0

    Protein attributes for ABCB8 Gene

    Size:
    735 amino acids
    Molecular mass:
    79989 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for ABCB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB8 Gene

Proteomics data for ABCB8 Gene at MOPED

Selected DME Specific Peptides for ABCB8 Gene

Post-translational modifications for ABCB8 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys247, Lys573, and Lys628

Domains for ABCB8 Gene

Gene Families for ABCB8 Gene

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

Protein Domains for ABCB8 Gene

UniProtKB/Swiss-Prot:

ABCB8_HUMAN
Domain:
  • Contains 1 ABC transmembrane type-1 domain.:
    • Q9NUT2
  • Contains 1 ABC transporter domain.:
    • Q9NUT2
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.:
    • Q9NUT2
genes like me logo Genes that share domains with ABCB8: view

Function for ABCB8 Gene

Molecular function for ABCB8 Gene

GENATLAS Biochemistry: ATP binding cassette superfamily,subfamily B (MDR/TAP),member 8,ubiquitously expressed,located in mitochondrial inner membrane

Enzyme Numbers (IUBMB) for ABCB8 Gene

Gene Ontology (GO) - Molecular Function for ABCB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9878413
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCB8: view

Phenotypes for ABCB8 Gene

genes like me logo Genes that share phenotypes with ABCB8: view

miRNA for ABCB8 Gene

miRTarBase miRNAs that target ABCB8

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCB8 Gene

Localization for ABCB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB8 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB8 Gene COMPARTMENTS Subcellular localization image for ABCB8 gene
Compartment Confidence
mitochondrion 5
nucleus 4
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ABCB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0005740 mitochondrial envelope TAS 9878413
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with ABCB8: view

Pathways for ABCB8 Gene

genes like me logo Genes that share pathways with ABCB8: view

Pathways by source for ABCB8 Gene

Interacting Proteins for ABCB8 Gene

Gene Ontology (GO) - Biological Process for ABCB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport TAS 9878413
GO:0008152 metabolic process IEA --
GO:0055085 transmembrane transport IBA --
genes like me logo Genes that share ontologies with ABCB8: view

Compounds for ABCB8 Gene

(1) Drugbank Compounds for ABCB8 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Doxorubicin
  • Adria
23214-92-8 transporter substrate
genes like me logo Genes that share compounds with ABCB8: view

Transcripts for ABCB8 Gene

Unigene Clusters for ABCB8 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB8 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7a · 7b · 7c ^
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - - - - - - - - - - - - -
SP11:
SP12: - - - -
SP13: - - - - - - - - - - - - - - - - -
SP14: - - - - - - - - - - - -
SP15: - -
SP16: - - - - - - - - - - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - - - - - - - - - -
SP19: - -
SP20: - - - - - - - - - -
SP21:
SP22:
SP23: - - - - - - - -
SP24: - - - - - - - - -
SP25: - - - - - -
SP26: - - - - - -
SP27: - - - - - - - -

ExUns: 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b · 32c
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

Relevant External Links for ABCB8 Gene

GeneLoc Exon Structure for
ABCB8
ECgene alternative splicing isoforms for
ABCB8

Expression for ABCB8 Gene

mRNA expression in normal human tissues for ABCB8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCB8 Gene

SOURCE GeneReport for Unigene cluster for ABCB8 Gene Hs.647118

mRNA Expression by UniProt/SwissProt for ABCB8 Gene

Q9NUT2-ABCB8_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with ABCB8: view

Orthologs for ABCB8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCB8 36
  • 99.35 (n)
  • 99.44 (a)
ABCB8 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCB8 36
  • 85.69 (n)
  • 87.02 (a)
ABCB8 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB8 36
  • 86.12 (n)
  • 87.52 (a)
ABCB8 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcb8 36
  • 83.03 (n)
  • 84.76 (a)
Abcb8 16
Abcb8 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCB8 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB8 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb8 36
  • 82.96 (n)
  • 83.33 (a)
chicken
(Gallus gallus)
Aves ABCB8 36
  • 70.68 (n)
  • 68.05 (a)
lizard
(Anolis carolinensis)
Reptilia ABCB8 37
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb8 36
  • 63.95 (n)
  • 63.02 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb8 36
  • 65.57 (n)
  • 68.74 (a)
abcb8 37
  • 59 (a)
OneToOne
Dr.18475 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006273 36
  • 56.9 (n)
  • 53.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1824 36
  • 56.88 (n)
  • 53.19 (a)
CG1824 37
  • 43 (a)
OneToOne
CG10226 38
  • 54 (a)
CG1824 38
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea haf-6 36
  • 53.75 (n)
  • 51.21 (a)
haf-6 37
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 37
  • 28 (a)
ManyToMany
MDL2 37
  • 26 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6372 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 53 (a)
OneToOne
Species with no ortholog for ABCB8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 ABCB8 Gene

ENSEMBL:
Gene Tree for ABCB8 (if available)
TreeFam:
Gene Tree for ABCB8 (if available)

Paralogs for ABCB8 Gene

Paralogs for ABCB8 Gene

genes like me logo Genes that share paralogs with ABCB8: view

Variants for ABCB8 Gene

Sequence variations from dbSNP and Humsavar for ABCB8 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs891506 -- 151,045,613(+) GTTCC(A/C)CGAGA utr-variant-3-prime
rs1063963 -- 151,042,080(+) ACCAG(C/T)TTCCC reference, synonymous-codon
rs1140977 -- 151,035,596(+) GCTGC(A/T)CCCAG reference, missense
rs1140978 -- 151,035,739(+) CAGGA(A/G)CAGAT synonymous-codon, reference
rs1140979 -- 151,035,881(+) GAGCA(G/T)ATCGC splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCB8 Gene

Variant ID Type Subtype PubMed ID
nsv889465 CNV Loss 21882294
nsv889469 CNV Gain 21882294
nsv889471 CNV Loss 21882294
nsv526410 CNV Loss 19592680
nsv889475 CNV Loss 21882294
nsv889476 CNV Loss 21882294
nsv524928 CNV Gain 19592680
nsv889477 CNV Loss 21882294
dgv7545n71 CNV Loss 21882294
nsv831188 CNV Loss 17160897
dgv7546n71 CNV Loss 21882294

Relevant External Links for ABCB8 Gene

HapMap Linkage Disequilibrium report
ABCB8

Disorders for ABCB8 Gene

Relevant External Links for ABCB8

Genetic Association Database (GAD)
ABCB8
Human Genome Epidemiology (HuGE) Navigator
ABCB8
genes like me logo Genes that share disorders with ABCB8: view

No data available for UniProtKB/Swiss-Prot for ABCB8 Gene

Publications for ABCB8 Gene

  1. Identification and characterization of a mammalian mitochondrial ATP- binding cassette membrane protein. (PMID: 9878413) Hogue D.L. … Ling V. (J. Mol. Biol. 1999) 3 4 23
  2. Mitochondrial ABC proteins in health and disease. (PMID: 19248758) Zutz A. … TampAc R. (Biochim. Biophys. Acta 2009) 3 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Targeting of the mitochondrial membrane proteins to the cell surface for functional studies. (PMID: 16259955) Ardehali H. … Machamer C. (Biochem. Biophys. Res. Commun. 2005) 3 4
  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 ABCB8 Gene

Sources for ABCB8 Gene

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