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... See more...

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 Sub-Family A Member 9 3 4
  • ATP-Binding Cassette A9 3
  • EC 3.6.3.41 52
  • EST640918 3
  • EC 3.6.3 52

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 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 ABCA9 Gene

Gene Wiki entry for ABCA9 Gene

Additional gene information for ABCA9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCA9 Gene

Genomics for ABCA9 Gene

GeneHancer (GH) Regulatory Elements for ABCA9 Gene

Promoters and enhancers for ABCA9 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
GH17J069059 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 502.2 +6.1 6105 4.4 USF1 RBM25 BCOR TOE1 HNF4A ZMYM3 KDM1A HLF HDAC6 ZNF652 ABCA9 KCNJ16 ABCA6 ABCA10 piR-38352-252
GH17J069066 Enhancer 0.7 ENCODE 500.7 +0.7 739 0.7 ZBTB5 NCOR1 SPI1 RCOR1 STAT5A HDAC2 FOXM1 ZNF384 DPF2 MEIS2 ABCA9 ABCA6 ABCA10 piR-38352-252
GH17J069067 Promoter 0.7 EPDnew 500.7 -0.2 -181 0.1 CTCF MYC HDGF ZBTB33 LARP7 ZNF512 EMSY ABCA9 ABCA6 ABCA10 piR-60885-045
GH17J069069 Enhancer 0.3 CraniofacialAtlas 500.7 -1.8 -1817 0.4 TEAD4 ABCA9 ABCA10 ABCA6 piR-60885-045
GH17J068508 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.8 +555.1 555091 6.9 FOXK2 ZBTB40 ZNF217 EP300 TCF12 SIN3A NRF1 POLR2G USF1 SP1 PRKAR1A NOL11 BPTF ABCA9 WIPI1 SLC16A6 lnc-ARSG-2 lnc-ARSG-3 ENSG00000267009
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCA9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCA9

Top Transcription factor binding sites by QIAGEN in the ABCA9 gene promoter:
  • aMEF-2
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • JunB
  • JunD
  • MEF-2A
  • NF-1

Genomic Locations for ABCA9 Gene

Genomic Locations for ABCA9 Gene
chr17:68,974,488-69,067,443
(GRCh38/hg38)
Size:
92,956 bases
Orientation:
Minus strand
chr17:66,970,629-67,057,205
(GRCh37/hg19)
Size:
86,577 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11021.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA9 Gene

Selected DME Specific Peptides for ABCA9 Gene

Q8IUA7:
  • DEPTAGLD
  • NGAGKST
  • LDEPTAG
  • VLLLDEP
  • DEPTAGLDP

Post-translational modifications for ABCA9 Gene

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

Domains & Families for ABCA9 Gene

Gene Families for ABCA9 Gene

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

Protein Domains for ABCA9 Gene

Suggested Antigen Peptide Sequences for ABCA9 Gene

GenScript: Design optimal peptide antigens:
  • ATP-binding cassette sub-family A member 9 (ABCA9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IUA7

UniProtKB/Swiss-Prot:

ABCA9_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 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 From GWAS Catalog for ABCA9 Gene

Gene Ontology (GO) - Molecular Function for ABCA9 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,IEA 21873635
genes like me logo Genes that share ontologies with ABCA9: view
genes like me logo Genes that share phenotypes with ABCA9: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA9

CRISPR Products

Clone Products

No data available for 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
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 ABCA9 gene
Compartment Confidence
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCA9 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 21873635
genes like me logo Genes that share ontologies with ABCA9: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IBA 21873635
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with ABCA9: view

No data available for SIGNOR curated interactions for ABCA9 Gene

Drugs & Compounds for ABCA9 Gene

No Compound Related Data Available

Transcripts for ABCA9 Gene

mRNA/cDNA for ABCA9 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for ABCA9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for ABCA9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCA9

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.

Evidence on tissue expression from TISSUES for ABCA9 Gene

  • Liver(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ABCA9: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA9 31 30
  • 87.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abca9 17 31 30
  • 81.55 (n)
cow
(Bos Taurus)
Mammalia ABCA9 31 30
  • 81.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca9 30
  • 81.36 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
ManyToMany
-- 31
  • 61 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 51 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii abch1 31
  • 17 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31213 31
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ced-7 31
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToMany
Species where no ortholog for ABCA9 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 (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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCA9: view image

Paralogs for ABCA9 Gene

Paralogs for ABCA9 Gene

(14) SIMAP similar genes for ABCA9 Gene using alignment to 3 proteins:

  • ABCA9_HUMAN
  • H0Y4U7_HUMAN
  • K7EJJ0_HUMAN

Pseudogenes.org Pseudogenes for ABCA9 Gene

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

Variants for ABCA9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCA9 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs17684521 - p.Asn785Ser
rs1860447 - p.Arg353His
rs2302294 - p.Lys1306Thr
rs9916254 - p.Gly1356Ser

Additional dbSNP identifiers (rs#s) for ABCA9 Gene

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

Variant ID Type Subtype PubMed ID
esv3582891 CNV loss 25503493
nsv1061151 CNV gain 25217958
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)

Additional Variant Information for ABCA9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA9

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCA9 Gene

Additional Disease Information for ABCA9

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

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. Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9. (PMID: 12150964) Piehler A … Schmitz G (Biochemical and biophysical research communications 2002) 2 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Systematic identification of pathological lamin A interactors. (PMID: 24623722) Dittmer TA … Misteli T (Molecular biology of the cell 2014) 3 54

Products for ABCA9 Gene

Sources for ABCA9 Gene