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Aliases for ABCA8 Gene

Aliases for ABCA8 Gene

  • ATP Binding Cassette Subfamily A Member 8 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 8 2
  • EC 3.6.3.41 61
  • KIAA0822 4
  • EC 3.6.3 61

External Ids for ABCA8 Gene

Previous GeneCards Identifiers for ABCA8 Gene

  • GC17M066662
  • GC17M069823
  • GC17M067327
  • GC17M067460
  • GC17M064376
  • GC17M066863
  • GC17M062249

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 Subfamily A Member 8) is a Protein Coding gene. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA9.

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

Regulatory Elements for ABCA8 Gene

Enhancers for ABCA8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F068962 0.2 Ensembl 16.8 -7.6 -7593 0.8 HLF FOS RCOR1 ZNF592 ABCA8 GC17M068986
GH17F068773 1.3 Ensembl ENCODE 16.7 +179.0 178987 5.0 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF143 ABCA10 ABCA8 ABCA6 WIPI1 LINC01482 GC17P068795 LOC105371877
GH17F068981 0.4 Ensembl 16.5 -26.0 -25994 0.8 JUN TBX21 RAD21 ZFHX2 GLIS2 IKZF1 ZNF600 MLLT1 IRF1 ABCA8 GC17M068986
GH17F068790 0.7 Ensembl ENCODE 16 +162.0 162048 6.5 PKNOX1 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 FOS SP5 ZHX2 ABCA10 ABCA8 ABCA9 GC17P068795 LOC105371877
GH17F069209 0.9 FANTOM5 13 -254.5 -254484 0.2 ABCA8 ABCA10 ABCA6 ABCA5 GC17P069213
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ABCA8 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001352045 808 2001 PKNOX1 ATF1 TBL1XR1 ZNF133 RAD21 CHAMP1 YY1 ZNF366 ELK1 ZNF207

Genomic Location for ABCA8 Gene

Chromosome:
17
Start:
68,867,287 bp from pter
End:
68,955,408 bp from pter
Size:
88,122 bases
Orientation:
Minus strand

Genomic View for ABCA8 Gene

Genes around ABCA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for ABCA8 Gene

O94911:
  • DEPTAGLD
  • NGAGKST
  • LDEPTAG
  • DEPTAGLDP

Post-translational modifications for ABCA8 Gene

  • Glycosylation at Asn 84, Asn 243, Asn 484, Asn 555, and Asn 908
  • Modification sites at PhosphoSitePlus

Domains & Families for ABCA8 Gene

Gene Families for ABCA8 Gene

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 :
  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
Domain:
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
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:0005215 transporter activity IEA --
GO:0005524 ATP binding IEA --
GO:0008559 xenobiotic-transporting ATPase activity TAS --
GO:0016887 ATPase activity IEA --
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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA8

miRNA for ABCA8 Gene

miRTarBase miRNAs that target ABCA8

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 3

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 IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCA8: view

Pathways & Interactions 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:0006810 transport IEA,IDA 12379217
GO:0006855 drug transmembrane transport IEA --
GO:0006869 lipid transport IBA --
GO:0042908 xenobiotic transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ABCA8: view

No data available for SIGNOR curated interactions for ABCA8 Gene

Transcripts for ABCA8 Gene

Unigene Clusters for ABCA8 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x5.0).

Protein differential expression in normal tissues from HIPED for ABCA8 Gene

This gene is overexpressed in Retina (15.5), Tonsil (7.8), and Testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA8 Gene



Protein tissue co-expression partners for ABCA8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCA8 Gene:

ABCA8

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 expression patterns with ABCA8: view

Primer Products

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 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia ABCA8 34 35
  • 84 (n)
mouse
(Mus musculus)
Mammalia Abca8b 34 16 35
  • 79.12 (n)
rat
(Rattus norvegicus)
Mammalia Abca8 34
  • 77.98 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 60 (a)
ManyToMany
-- 35
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABCA8 34
  • 58.61 (n)
-- 35
  • 51 (a)
ManyToMany
-- 35
  • 46 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 44 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485734 34
  • 59.2 (n)
zebrafish
(Danio rerio)
Actinopterygii abch1 35
  • 14 (a)
ManyToMany
Dr.7652 34
fruit fly
(Drosophila melanogaster)
Insecta CG8908 35
  • 20 (a)
ManyToMany
CG1494 35
  • 16 (a)
ManyToMany
CG1801 35
  • 15 (a)
ManyToMany
CG43672 35
  • 14 (a)
ManyToMany
CG11147 35
  • 13 (a)
ManyToMany
CG33970 35
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for ABCA8 was found in the sources mined by GeneCards:
  • 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

(6) 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
rs10438702 -- 68,934,055(+) TGTAT(A/G)TATAT intron-variant
rs10438703 -- 68,934,761(+) ATTTA(A/C)AAATT intron-variant
rs10512521 -- 68,937,660(+) TATTA(A/G)TACTG intron-variant
rs10670855 -- 68,951,707(+) TTCTG(-/ATA)ATAAT intron-variant
rs1080499 -- 68,910,738(-) CTTGT(A/C)TGCAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3554702 CNV deletion 23714750
nsv1061151 CNV gain 25217958
nsv1066412 CNV loss 25217958
nsv1113885 CNV deletion 24896259
nsv479405 CNV novel sequence insertion 20440878
nsv575928 CNV loss 21841781
nsv575929 CNV loss 21841781
nsv7296 OTHER inversion 18451855

Variation tolerance for ABCA8 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.47; 85.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA8 Gene

Human Gene Mutation Database (HGMD)
ABCA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA8

No disorders were found for ABCA8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABCA8 Gene

Publications for ABCA8 Gene

  1. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 46 64
  2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64
  3. 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 64
  4. 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 64
  5. Functional analysis of ABCA8, a new drug transporter. (PMID: 12379217) Tsuruoka S. … Fujimura A. (Biochem. Biophys. Res. Commun. 2002) 3 4 64

Products for ABCA8 Gene

Sources for ABCA8 Gene

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