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Aliases for ABCA9 Gene

Aliases for ABCA9 Gene

  • ATP Binding Cassette Subfamily A Member 9 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 9 2 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 Subfamily A 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 and ATPase activity, coupled to transmembrane movement of substances. 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

Chromosome:
17
Start:
68,974,488 bp from pter
End:
69,067,443 bp from pter
Size:
92,956 bases
Orientation:
Minus strand

Genomic View for ABCA9 Gene

Genes around ABCA9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 120, Asn 195, and Asn 949
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA9 Gene

Domains & Families for ABCA9 Gene

Gene Families for ABCA9 Gene

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 :
  • 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 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

Phenotypes for ABCA9 Gene

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

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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
mitochondrion 3
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for ABCA9 Gene

Pathways & Interactions for ABCA9 Gene

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

Pathways by source for ABCA9 Gene

Interacting Proteins for ABCA9 Gene

Gene Ontology (GO) - Biological Process for ABCA9 Gene

None

No data available for SIGNOR curated interactions for ABCA9 Gene

Drugs & Compounds for ABCA9 Gene

No Compound Related Data Available

Transcripts for ABCA9 Gene

Unigene Clusters for ABCA9 Gene

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

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

Protein differential expression in normal tissues from HIPED for ABCA9 Gene

This gene is overexpressed in Heart (43.8) and Ovary (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB 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 expression patterns with ABCA9: view

Protein tissue co-expression partners for ABCA9 Gene

Primer Products

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 36
  • 99 (a)
OneToOne
ABCA9 35
  • 99.32 (n)
  • 99.2 (a)
cow
(Bos Taurus)
Mammalia ABCA9 35
  • 81.51 (n)
  • 77.54 (a)
ABCA9 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA9 36
  • 86 (a)
OneToOne
ABCA9 35
  • 87.44 (n)
  • 85.59 (a)
mouse
(Mus musculus)
Mammalia Abca9 16
Abca9 36
  • 79 (a)
OneToOne
Abca9 35
  • 81.55 (n)
  • 78.67 (a)
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
rs1860447 - 69,035,316(-) TACAC(A/G)TCTTC reference, missense
rs17684521 - 69,021,789(+) CCTCA(C/T)TCAAA reference, missense
rs2302294 - 68,989,851(-) GAAAA(A/C)AATTG reference, missense
rs9916254 - 68,986,306(+) TCCAC(A/C/T)GCTCC reference, missense
rs1076401 -- 69,046,621(+) TGCAA(G/T)AGTTC 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

Variation tolerance for ABCA9 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.36; 97.09% of all genes are more intolerant (likely to be disease-causing)

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA9

No disorders were found for ABCA9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABCA9 Gene

Publications for ABCA9 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9. (PMID: 12150964) Piehler A. … Schmitz G. (Biochem. Biophys. Res. Commun. 2002) 3

Products for ABCA9 Gene

Sources for ABCA9 Gene

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