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Aliases for ABCA9 Gene

Aliases for ABCA9 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 9 2 3
  • ATP-Binding Cassette Sub-Family A Member 9 3
  • ATP-Binding Cassette A9 3
  • EC 3.6.3.41 63
  • EST640918 3
  • EC 3.6.3 63

External Ids for ABCA9 Gene

Previous GeneCards Identifiers for ABCA9 Gene

  • GC17M066770
  • GC17M069931
  • GC17M067435
  • GC17M067568
  • GC17M064482
  • GC17M066970
  • GC17M062357

Summaries for ABCA9 Gene

Entrez Gene Summary for ABCA9 Gene

  • This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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 gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA9 Gene

ABCA9 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 9) 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. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA9 Gene

  • May play a role in monocyte differentiation and lipid homeostasis.

Gene Wiki entry for ABCA9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA9 Gene

Genomics for ABCA9 Gene

Regulatory Elements for ABCA9 Gene

Genomic Location for ABCA9 Gene

Start:
68,974,488 bp from pter
End:
69,062,296 bp from pter
Size:
87,809 bases
Orientation:
Minus strand

Genomic View for ABCA9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA9 Gene

Proteins for ABCA9 Gene

  • Protein details for ABCA9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUA7-ABCA9_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 9
    Protein Accession:
    Q8IUA7
    Secondary Accessions:
    • Q6P655
    • Q8N2S4
    • Q8WWZ5
    • Q96MD8

    Protein attributes for ABCA9 Gene

    Size:
    1624 amino acids
    Molecular mass:
    184362 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH62472.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11021.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA9 Gene

Proteomics data for ABCA9 Gene at MOPED

Selected DME Specific Peptides for ABCA9 Gene

Post-translational modifications for ABCA9 Gene

  • Glycosylation at Asn120, Asn195, and Asn949
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA9 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ABCA9 Gene

Gene Families for ABCA9 Gene

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

Protein Domains for ABCA9 Gene

Suggested Antigen Peptide Sequences for ABCA9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUA7

UniProtKB/Swiss-Prot:

ABCA9_HUMAN :
  • Q8IUA7
Domain:
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA9: view

Function for ABCA9 Gene

Molecular function for ABCA9 Gene

UniProtKB/Swiss-Prot Function: May play a role in monocyte differentiation and lipid homeostasis.
UniProtKB/Swiss-Prot Induction: Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.

Enzyme Numbers (IUBMB) for ABCA9 Gene

Gene Ontology (GO) - Molecular Function for ABCA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCA9: view

Animal Model Products

CRISPR Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ABCA9 Gene

Localization for ABCA9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA9 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA9 Gene COMPARTMENTS Subcellular localization image for ABCA9 gene
Compartment Confidence
plasma membrane 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ABCA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCA9: view

Pathways for ABCA9 Gene

genes like me logo Genes that share pathways with ABCA9: view

Pathways by source for ABCA9 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for ABCA9 Gene

Gene Ontology (GO) - Biological Process for ABCA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport --
GO:0006869 lipid transport IBA --
GO:0008152 metabolic process IEA --
GO:0055085 transmembrane transport IBA --
genes like me logo Genes that share ontologies with ABCA9: view

Transcripts for ABCA9 Gene

Unigene Clusters for ABCA9 Gene

ATP-binding cassette, sub-family A (ABC1), member 9:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCA9

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ABCA9

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA9 Gene

No ASD Table

Relevant External Links for ABCA9 Gene

GeneLoc Exon Structure for
ABCA9
ECgene alternative splicing isoforms for
ABCA9

Expression for ABCA9 Gene

mRNA expression in normal human tissues for ABCA9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA9 Gene

SOURCE GeneReport for Unigene cluster for ABCA9 Gene Hs.131686

mRNA Expression by UniProt/SwissProt for ABCA9 Gene

Q8IUA7-ABCA9_HUMAN
Tissue specificity: Widely expressed with higher expression in heart.
genes like me logo Genes that share expressions with ABCA9: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ABCA9 Gene

Orthologs for ABCA9 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA9 35
  • 99.32 (n)
  • 99.2 (a)
ABCA9 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCA9 35
  • 81.51 (n)
  • 77.54 (a)
ABCA9 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA9 35
  • 87.44 (n)
  • 85.59 (a)
ABCA9 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca9 35
  • 81.55 (n)
  • 78.67 (a)
Abca9 16
Abca9 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 63 (a)
ManyToMany
-- 36
  • 61 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abca9 35
  • 81.36 (n)
  • 78.33 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 46 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abch1 36
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31213 36
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ced-7 36
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for ABCA9:
  • 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 (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABCA9 Gene

ENSEMBL:
Gene Tree for ABCA9 (if available)
TreeFam:
Gene Tree for ABCA9 (if available)

Paralogs for ABCA9 Gene

Paralogs for ABCA9 Gene

Pseudogenes.org Pseudogenes for ABCA9 Gene

genes like me logo Genes that share paralogs with ABCA9: view

Variants for ABCA9 Gene

Sequence variations from dbSNP and Humsavar for ABCA9 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs11453 -- 68,974,804(-) TTATA(C/T)ACAAG utr-variant-3-prime, downstream-variant-500B
rs732010 -- 69,046,599(-) ataat(A/G)gaaaa intron-variant
rs732011 -- 69,046,718(-) gtctt(A/G)agtgt intron-variant
rs732012 -- 69,046,719(-) tgtct(C/T)gagtg intron-variant
rs1001239 -- 69,026,759(-) TACAT(A/G)TCACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA9 Gene

Variant ID Type Subtype PubMed ID
dgv3246n71 CNV Loss 21882294
nsv833526 CNV Gain 17160897

Relevant External Links for ABCA9 Gene

HapMap Linkage Disequilibrium report
ABCA9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA9 Gene

Disorders for ABCA9 Gene

Relevant External Links for ABCA9

Genetic Association Database (GAD)
ABCA9
Human Genome Epidemiology (HuGE) Navigator
ABCA9
genes like me logo Genes that share disorders with ABCA9: view

No data available for UniProtKB/Swiss-Prot for ABCA9 Gene

Publications for ABCA9 Gene

  1. Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9. (PMID: 12150964) Piehler A. … Schmitz G. (Biochem. Biophys. Res. Commun. 2002) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  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
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PMID: 19159218) Chen R. … Zou H. (J. Proteome Res. 2009) 4

Products for ABCA9 Gene

Sources for ABCA9 Gene

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