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... See more...

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 4
  • ATP-Binding Cassette A6 3
  • ABC Transporter ABCA6 3
  • EC 2.5.1.19 54
  • EC 3.6.3.25 54
  • EST155051 3
  • EC 3.6.3 54

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 CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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 Summary for ABCA6 Gene

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

Additional gene information for ABCA6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCA6 Gene

Genomics for ABCA6 Gene

GeneHancer (GH) Regulatory Elements for ABCA6 Gene

Promoters and enhancers for ABCA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J069141 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 750.6 -0.2 -211 3.6 RAD21 DACH1 SP1 CEBPG GMEB1 CEBPA RXRA GATAD2A FOXA2 ZNF24 ABCA6 ABCA10 ABCA5 lnc-ABCA6-1
GH17J069115 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 762 +25.0 24992 5.2 SP1 ETV6 RELA MLLT1 ZNF687 CREM ZBED1 IKZF1 BACH1 TRIM22 ABCA6 lnc-ABCA10-3 ABCA10 ABCA9 ABCA5
GH17J068454 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 +682.7 682680 10.4 E2F8 FOXK2 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 MLX RBPJ WIPI1 lnc-ARSG-3 NOL11 BPTF SNRPGP4 ABCA6 PRKAR1A ABCA9 MIR635 SEC24AP1
GH17J069092 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 26.7 +48.2 48189 3.1 SMARCE1 CC2D1A ELF1 L3MBTL2 TEAD4 GTF2F1 MLLT1 BACH1 CBFA2T2 SMARCA4 L13713-101 lnc-ABCA9-2 ABCA6 ABCA9 SEC24AP1 ABCA10
GH17J069046 Enhancer 1.2 Ensembl ENCODE 14.4 +93.1 93110 7 ZBTB40 MLX RBPJ SMARCE1 NR2F1 ATF1 NR2F6 CREB1 MIXL1 CC2D1A ABCA6 ABCA9 SEC24AP1 piR-38352-252
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCA6 gene promoter:
  • AML1a
  • AREB6
  • FOXD1
  • GATA-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Olf-1
  • Sox9

Genomic Locations for ABCA6 Gene

Genomic Locations for ABCA6 Gene
chr17:69,078,089-69,141,992
(GRCh38/hg38)
Size:
63,904 bases
Orientation:
Minus strand
chr17:67,074,843-67,138,029
(GRCh37/hg19)
Size:
63,187 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

Q8N139:
  • LDEPTTG
  • VLLLDEP
  • DEPTTGLDP
  • GPNGAGKS
  • ELKVKET
  • GLLGPNGAGK
  • LLGPNGAGK

Post-translational modifications for ABCA6 Gene

  • Glycosylation at Asn84, Asn109, and Asn940
  • Modification sites at PhosphoSitePlus

Domains & Families for ABCA6 Gene

Gene Families for ABCA6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCA6 Gene

Suggested Antigen Peptide Sequences for ABCA6 Gene

GenScript: Design optimal peptide antigens:
  • ABCA6 protein (A4FVC6_HUMAN)
  • ATP-binding cassette sub-family A member 6 (ABCA6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N139

UniProtKB/Swiss-Prot:

ABCA6_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCA family.
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

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.
GENATLAS Biochemistry:
ATP binding cassette superfamily A,member 6

Enzyme Numbers (IUBMB) for ABCA6 Gene

Phenotypes From GWAS Catalog for ABCA6 Gene

Gene Ontology (GO) - Molecular Function for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA 21873635
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:
  • Abca6 Abca6<tm2b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA6

CRISPR Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCA6 gene
Compartment Confidence
plasma membrane 5
nucleus 4
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
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:0006869 lipid transport IBA 21873635
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0099131 ATP hydrolysis coupled ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with ABCA6: view

No data available for SIGNOR curated interactions for ABCA6 Gene

Drugs & Compounds for ABCA6 Gene

No Compound Related Data Available

Transcripts for ABCA6 Gene

mRNA/cDNA for ABCA6 Gene

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for ABCA6 Gene

  • Liver(4.5)
  • Lung(4.3)
  • Spleen(4.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with ABCA6: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA6 32
  • 82.5 (n)
cow
(Bos Taurus)
Mammalia ABCA6 33 32
  • 78.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abca6 17 33 32
  • 76.48 (n)
rat
(Rattus norvegicus)
Mammalia Abca6 32
  • 75.4 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 60 (a)
ManyToMany
-- 33
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 55 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 33
  • 47 (a)
ManyToMany
-- 33
  • 45 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 42 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abch1 33
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31731 33
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 33
  • 19 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.18695 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCA6: view image

Paralogs for ABCA6 Gene

Paralogs for ABCA6 Gene

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

  • ABCA6_HUMAN
  • A4FVC6_HUMAN

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 Variation AA Info Type
rs1000121805 -- 69,062,869(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000199865 -- 69,140,844(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000283661 -- 69,101,723(-) A/C intron_variant
rs1000311054 -- 69,074,356(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000312824 -- 69,087,779(-) T/C 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)

Additional Variant Information for ABCA6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCA6 Gene

Additional Disease Information for ABCA6

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

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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 43 56
  3. 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 (Journal of human genetics 2009) 3 43 56
  4. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 43 56
  5. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 43 56

Products for ABCA6 Gene

Sources for ABCA6 Gene