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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 A6 3
  • ABC Transporter ABCA6 3
  • EC 2.5.1.19 63
  • EC 3.6.3.25 63
  • EST155051 3
  • EC 3.6.3 63

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 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 and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA4.

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

Promoters for ABCA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCA6 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ABCA6 Gene at MOPED

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

ENSEMBL proteins:
REFSEQ proteins:

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

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

Animal Models for ABCA6 Gene

MGI Knock Outs for ABCA6:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for ABCA6 Gene

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

None

No data available for SIGNOR curated interactions for ABCA6 Gene

Drugs & Compounds for ABCA6 Gene

No Compound Related Data Available

Transcripts for ABCA6 Gene

Unigene Clusters for ABCA6 Gene

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

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



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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ABCA6 35
  • 78.75 (n)
  • 72.71 (a)
ABCA6 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA6 35
  • 82.5 (n)
  • 75.33 (a)
mouse
(Mus musculus)
Mammalia Abca6 35
  • 76.48 (n)
  • 67.97 (a)
Abca6 16
Abca6 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca6 35
  • 75.4 (n)
  • 68.54 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ABCA6 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 45 (a)
ManyToMany
-- 36
  • 47 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 42 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abch1 36
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31731 36
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 36
  • 19 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.18695 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for ABCA6:
  • 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
rs4968839 - 69,129,699(+) TGTAA(C/G/T)GAATA intron-variant, upstream-variant-2KB, reference, missense
rs9282554 - 69,113,692(-) AAGAT(A/T)ACCTT reference, missense
rs9282553 - 69,112,221(-) TCTAT(A/C/G)TTTTT reference, missense
rs7212506 - 69,105,577(+) GCATA(C/T)ATTAT reference, missense
rs2302134 - 69,085,689(+) CACCA(C/T)TGGGT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833526 CNV Gain 17160897
nsv908705 CNV Loss 21882294
nsv470598 CNV Loss 18288195
esv2556464 CNV Deletion 19546169
esv2069389 CNV Deletion 18987734
esv2615334 CNV Deletion 19546169
esv1450413 CNV Deletion 17803354
esv2716153 CNV Deletion 23290073
nsv2128 CNV Insertion 18451855

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

HapMap Linkage Disequilibrium report
ABCA6
Human Gene Mutation Database (HGMD)
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 48 67
  2. 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
  3. A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival. (PMID: 25294155) Baecklund F. … Smedby K.E. (BMC Med. Genet. 2014) 3
  4. FoxO regulates expression of ABCA6, an intracellular ATP-binding-cassette transporter responsive to cholesterol. (PMID: 24028821) Gai J. … Li H. (Int. J. Biochem. Cell Biol. 2013) 3
  5. 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

Products for ABCA6 Gene

Sources for ABCA6 Gene

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