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Aliases for ABCA8 Gene

Aliases for ABCA8 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 8 2 3
  • KIAA0822 4 6
  • EC 3.6.3.41 63
  • EC 3.6.3 63

External Ids for ABCA8 Gene

Summaries for ABCA8 Gene

Entrez Gene Summary for ABCA8 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for ABCA8 Gene

ABCA8 (ATP-Binding Cassette, Sub-Family A (ABC1), 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 ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA8 Gene

  • ATP-dependent lipophilic drug transporter.

Gene Wiki entry for ABCA8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA8 Gene

Genomics for ABCA8 Gene

Genomic Location for ABCA8 Gene

Start:
68,867,287 bp from pter
End:
68,955,404 bp from pter
Size:
88,118 bases
Orientation:
Minus strand

Genomic View for ABCA8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA8 Gene

Regulatory Elements for ABCA8 Gene

Proteins for ABCA8 Gene

  • Protein details for ABCA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94911-ABCA8_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 8
    Protein Accession:
    O94911
    Secondary Accessions:
    • A1L3U3
    • C9JQE6
    • Q86WW0

    Protein attributes for ABCA8 Gene

    Size:
    1581 amino acids
    Molecular mass:
    179245 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA74845.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA8 Gene

Proteomics data for ABCA8 Gene at MOPED

Selected DME Specific Peptides for ABCA8 Gene

Post-translational modifications for ABCA8 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn84, Asn243, Asn484, Asn555, and Asn908

Other Protein References for ABCA8 Gene

Domains for ABCA8 Gene

Gene Families for ABCA8 Gene

HGNC:
  • ABCA :ATP binding cassette transporters / subfamily A
IUPHAR :

Protein Domains for ABCA8 Gene

Suggested Antigen Peptide Sequences for ABCA8 Gene

Graphical View of Domain Structure for InterPro Entry

O94911

UniProtKB/Swiss-Prot:

ABCA8_HUMAN
Domain:
  • Contains 2 ABC transporter domains.:
    • O94911
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.:
    • O94911
genes like me logo Genes that share domains with ABCA8: view

Function for ABCA8 Gene

Molecular function for ABCA8 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=30.4 uM for estradiol-beta-glucuronide {ECO:0000269 PubMed:12379217}; KM=0.1 uM for LTC4 {ECO:0000269 PubMed:12379217}; KM=10.3 uM for taurochlorate {ECO:0000269 PubMed:12379217}; KM=5.0 uM for PAH {ECO:0000269 PubMed:12379217}; KM=0.5 uM for estrone sulfate {ECO:0000269 PubMed:12379217}; KM=0.4 uM for ochratoxin A {ECO:0000269 PubMed:12379217};
UniProtKB/Swiss-Prot Function: ATP-dependent lipophilic drug transporter.

Enzyme Numbers (IUBMB) for ABCA8 Gene

Gene Ontology (GO) - Molecular Function for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity --
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding --
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IDA 12379217
genes like me logo Genes that share ontologies with ABCA8: view

Phenotypes for ABCA8 Gene

GenomeRNAi human phenotypes for ABCA8:
genes like me logo Genes that share phenotypes with ABCA8: view

miRNA for ABCA8 Gene

miRTarBase miRNAs that target ABCA8

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ABCA8 Gene

Localization for ABCA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA8 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA8 Gene COMPARTMENTS Subcellular localization image for ABCA8 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IBA --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCA8: view

Pathways for ABCA8 Gene

genes like me logo Genes that share pathways with ABCA8: view

Pathways by source for ABCA8 Gene

1 KEGG pathway for ABCA8 Gene

Interacting Proteins for ABCA8 Gene

Gene Ontology (GO) - Biological Process for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport IDA 12379217
GO:0006869 lipid transport IBA --
GO:0008152 metabolic process IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ABCA8: view

Transcripts for ABCA8 Gene

Unigene Clusters for ABCA8 Gene

ATP-binding cassette, sub-family A (ABC1), member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:
SP2: -
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ABCA8 Gene

GeneLoc Exon Structure for
ABCA8
ECgene alternative splicing isoforms for
ABCA8

Expression for ABCA8 Gene

mRNA expression in normal human tissues for ABCA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA8 Gene

This gene is overexpressed in Nerve - Tibial (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA8 Gene

SOURCE GeneReport for Unigene cluster for ABCA8 Gene Hs.58351

mRNA Expression by UniProt/SwissProt for ABCA8 Gene

O94911-ABCA8_HUMAN
Tissue specificity: Widely expressed with higher expression in heart, skeletal muscle and liver.
genes like me logo Genes that share expressions with ABCA8: view

Orthologs for ABCA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA8 35
  • 99.38 (n)
  • 99.2 (a)
ABCA8 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA8 35
  • 84 (n)
  • 79.56 (a)
ABCA8 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca8b 35
  • 79.12 (n)
  • 75.63 (a)
Abca8b 16
Abca8b 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abca8 35
  • 77.98 (n)
  • 72.74 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 46 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
ABCA8 35
  • 58.61 (n)
  • 48.54 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 44 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485734 35
  • 59.2 (n)
  • 50.48 (a)
zebrafish
(Danio rerio)
Actinopterygii abch1 36
  • 14 (a)
ManyToMany
Dr.7652 35
fruit fly
(Drosophila melanogaster)
Insecta CG11147 36
  • 13 (a)
ManyToMany
CG1494 36
  • 16 (a)
ManyToMany
CG1801 36
  • 15 (a)
ManyToMany
CG33970 36
  • 12 (a)
ManyToMany
CG43672 36
  • 14 (a)
ManyToMany
CG8908 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
Species with no ortholog for ABCA8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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 ABCA8 Gene

ENSEMBL:
Gene Tree for ABCA8 (if available)
TreeFam:
Gene Tree for ABCA8 (if available)

Paralogs for ABCA8 Gene

Paralogs for ABCA8 Gene

Selected SIMAP similar genes for ABCA8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ABCA8: view

Variants for ABCA8 Gene

Sequence variations from dbSNP and Humsavar for ABCA8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1481 -- 68,876,661(+) TTCAC(C/G)GGAGA reference, synonymous-codon
rs767690 -- 68,928,414(-) CATGC(C/T)GCCAA intron-variant
rs887380 -- 68,942,878(-) GGACA(G/T)AAACT intron-variant
rs894594 -- 68,878,789(-) AAGGT(A/T)CCTCT intron-variant
rs960929 -- 68,941,291(+) ACATG(C/T)GAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA8 Gene

Variant ID Type Subtype PubMed ID
nsv908694 CNV Loss 21882294
nsv7296 OTHER Inversion 18451855
nsv908695 CNV Loss 21882294
nsv908696 CNV Loss 21882294
dgv3244n71 CNV Loss 21882294
dgv3245n71 CNV Loss 21882294
dgv3246n71 CNV Loss 21882294
nsv908704 CNV Loss 21882294

Relevant External Links for ABCA8 Gene

HapMap Linkage Disequilibrium report
ABCA8
Human Gene Mutation Database (HGMD)
ABCA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA8 Gene

Disorders for ABCA8 Gene

Relevant External Links for ABCA8

Genetic Association Database (GAD)
ABCA8
Human Genome Epidemiology (HuGE) Navigator
ABCA8
genes like me logo Genes that share disorders with ABCA8: view

No data available for UniProtKB/Swiss-Prot for ABCA8 Gene

Publications for ABCA8 Gene

  1. Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. (PMID: 12111378) Iida A. … Nakamura Y. (J. Hum. Genet. 2002) 3 4
  2. Functional analysis of ABCA8, a new drug transporter. (PMID: 12379217) Tsuruoka S. … Fujimura A. (Biochem. Biophys. Res. Commun. 2002) 3 4
  3. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 48

Products for ABCA8 Gene

Sources for ABCA8 Gene

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