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Aliases for ABCA6 Gene

Aliases for ABCA6 Gene

  • ATP Binding Cassette Subfamily A Member 6 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 6 2 3
  • ATP-Binding Cassette Sub-Family A Member 6 3
  • ATP-Binding Cassette A6 3
  • ABC Transporter ABCA6 3
  • EC 2.5.1.19 61
  • EC 3.6.3.25 61
  • EST155051 3
  • EC 3.6.3 61

External Ids for ABCA6 Gene

Previous GeneCards Identifiers for ABCA6 Gene

  • GC17M066873
  • GC17M070035
  • GC17M067539
  • GC17M067671
  • GC17M064586
  • GC17M067074
  • GC17M062462

Summaries for ABCA6 Gene

Entrez Gene Summary for ABCA6 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA6 Gene

ABCA6 (ATP Binding Cassette Subfamily A Member 6) 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 ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA8.

UniProtKB/Swiss-Prot for ABCA6 Gene

  • Probable transporter which may play a role in macrophage lipid homeostasis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA6 Gene

Genomics for ABCA6 Gene

Regulatory Elements for ABCA6 Gene

Enhancers for ABCA6 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
GH17F069067 0.5 Ensembl 15.5 +74.1 74092 0.2 CTCF ZNF512 REST EMSY RAD21 ABCA6 ABCA10 ABCA9 GC17M069096
GH17F069092 1.4 FANTOM5 Ensembl ENCODE 14.1 +48.2 48190 3.1 PKNOX1 ARNT ZNF48 ELK1 GATA2 NCOA1 CREB3 MEF2D SMARCA4 PBX2 ABCA6 ABCA9 ABCA10 GC17M069096
GH17F069170 1.2 Ensembl ENCODE 12.8 -28.5 -28523 0.2 SMARCE1 TAL1 ZBTB11 ZNF175 ARID1B MEF2D SMARCA4 NCOR1 KLF16 IKZF1 ABCA6 ABCA10 GC17P069213
GH17F069118 0.5 Ensembl 12 +23.7 23692 0.6 TBP TBL1XR1 MTA2 CHD1 JUNB BMI1 EP300 RELA POLR2A IKZF1 ABCA6 ABCA10 ABCA9 GC17M069120 MIR4524A
GH17F069414 0.2 ENCODE 12 -274.4 -274445 4.7 PKNOX1 ATF1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ETS1 YY1 ZNF143 ABCA6 LOC100421166 MAP2K6 ENSG00000278972
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ABCA6 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001352076 691 1400 ATF3 FOXA3 HMBOX1 CEBPB CEBPG RAD21 CHAMP1 YY1

Genomic Location for ABCA6 Gene

Chromosome:
17
Start:
69,078,089 bp from pter
End:
69,141,992 bp from pter
Size:
63,904 bases
Orientation:
Minus strand

Genomic View for ABCA6 Gene

Genes around ABCA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA6 Gene

Proteins for ABCA6 Gene

  • Protein details for ABCA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N139-ABCA6_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 6
    Protein Accession:
    Q8N139
    Secondary Accessions:
    • Q6NSH9
    • Q8N856
    • Q8WWZ6

    Protein attributes for ABCA6 Gene

    Size:
    1617 amino acids
    Molecular mass:
    184286 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM77557.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO:0000305}; Sequence=AAM77558.1; Type=Frameshift; Positions=998, 1000; Evidence={ECO:0000305}; Sequence=BAC04994.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA6 Gene

Selected DME Specific Peptides for ABCA6 Gene

Post-translational modifications for ABCA6 Gene

  • Glycosylation at Asn 84, Asn 109, and Asn 940
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA6 Gene

Domains & Families for ABCA6 Gene

Gene Families for ABCA6 Gene

Protein Domains for ABCA6 Gene

Suggested Antigen Peptide Sequences for ABCA6 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N139

UniProtKB/Swiss-Prot:

ABCA6_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 ABCA6: view

Function for ABCA6 Gene

Molecular function for ABCA6 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily A,member 6
UniProtKB/Swiss-Prot Function:
Probable transporter which may play a role in macrophage lipid homeostasis.
UniProtKB/Swiss-Prot Induction:
Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.

Enzyme Numbers (IUBMB) for ABCA6 Gene

Gene Ontology (GO) - Molecular Function for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCA6: view
genes like me logo Genes that share phenotypes with ABCA6: view

Animal Models for ABCA6 Gene

MGI Knock Outs for ABCA6:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCA6 Gene

Localization for ABCA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA6 Gene COMPARTMENTS Subcellular localization image for ABCA6 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with ABCA6: view

Pathways & Interactions for ABCA6 Gene

genes like me logo Genes that share pathways with ABCA6: view

Pathways by source for ABCA6 Gene

Interacting Proteins for ABCA6 Gene

Gene Ontology (GO) - Biological Process for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IBA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with ABCA6: view

No data available for SIGNOR curated interactions for ABCA6 Gene

Transcripts for ABCA6 Gene

Unigene Clusters for ABCA6 Gene

ATP-binding cassette, sub-family A (ABC1), member 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA6 Gene

No ASD Table

Relevant External Links for ABCA6 Gene

GeneLoc Exon Structure for
ABCA6
ECgene alternative splicing isoforms for
ABCA6

Expression for ABCA6 Gene

mRNA expression in normal human tissues for ABCA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCA6 Gene

This gene is overexpressed in Liver (21.3), Adrenal (16.6), Gallbladder (15.0), and Fetal Liver (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA6 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCA6 Gene:

ABCA6

SOURCE GeneReport for Unigene cluster for ABCA6 Gene:

Hs.709514

mRNA Expression by UniProt/SwissProt for ABCA6 Gene:

Q8N139-ABCA6_HUMAN
Tissue specificity: Widely expressed with higher expression in liver.
genes like me logo Genes that share expression patterns with ABCA6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ABCA6 Gene

Orthologs for ABCA6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA6 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA6 34
  • 82.5 (n)
cow
(Bos Taurus)
Mammalia ABCA6 34 35
  • 78.75 (n)
mouse
(Mus musculus)
Mammalia Abca6 34 16 35
  • 76.48 (n)
rat
(Rattus norvegicus)
Mammalia Abca6 34
  • 75.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 60 (a)
ManyToMany
-- 35
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 47 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 42 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abch1 35
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31731 35
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 35
  • 19 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.18695 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToMany
Species where no ortholog for ABCA6 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABCA6 Gene

ENSEMBL:
Gene Tree for ABCA6 (if available)
TreeFam:
Gene Tree for ABCA6 (if available)

Paralogs for ABCA6 Gene

Paralogs for ABCA6 Gene

(12) SIMAP similar genes for ABCA6 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ABCA6 Gene

genes like me logo Genes that share paralogs with ABCA6: view

Variants for ABCA6 Gene

Sequence variations from dbSNP and Humsavar for ABCA6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1024668 -- 69,069,745(-) AATGA(A/T)TCTGA intron-variant, nc-transcript-variant
rs1024669 -- 69,069,645(-) AGTGC(A/C)GGCTT intron-variant, nc-transcript-variant
rs1024670 -- 69,069,422(-) ACAGG(C/G)TTTGC intron-variant, nc-transcript-variant
rs10512524 -- 69,117,094(+) CCTAG(A/G)GAGAG intron-variant
rs10512525 -- 69,117,221(+) TGGTC(A/G)GAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA6 Gene

Variant ID Type Subtype PubMed ID
dgv1502n106 CNV deletion 24896259
esv1450413 CNV deletion 17803354
esv2069389 CNV deletion 18987734
esv2556464 CNV deletion 19546169
esv2615334 CNV deletion 19546169
esv2716153 CNV deletion 23290073
esv3554709 CNV deletion 23714750
esv3641121 CNV loss 21293372
esv3641122 CNV loss 21293372
nsv1066998 CNV loss 25217958
nsv1071799 CNV deletion 25765185
nsv1113886 CNV deletion 24896259
nsv1151781 CNV deletion 26484159
nsv2128 CNV insertion 18451855
nsv470598 CNV loss 18288195
nsv575930 CNV loss 21841781
nsv833526 CNV gain 17160897
nsv954538 CNV deletion 24416366

Variation tolerance for ABCA6 Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.24; 95.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA6 Gene

Human Gene Mutation Database (HGMD)
ABCA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA6 Gene

Disorders for ABCA6 Gene

Relevant External Links for ABCA6

Genetic Association Database (GAD)
ABCA6
Human Genome Epidemiology (HuGE) Navigator
ABCA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA6

No disorders were found for ABCA6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABCA6 Gene

Publications for ABCA6 Gene

  1. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M. … Lan Q. (Environ. Mol. Mutagen. 2009) 3 46 64
  4. 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
  5. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood H.D. … Lan Q. (Respir Med 2009) 3 46 64

Products for ABCA6 Gene

Sources for ABCA6 Gene

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