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Aliases for ABCA1 Gene

Aliases for ABCA1 Gene

  • ATP Binding Cassette Subfamily A Member 1 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 1 2 3
  • Cholesterol Efflux Regulatory Protein 3 4
  • ABC-1 3 4
  • ABC1 3 4
  • CERP 3 4
  • ATP-Binding Cassette Sub-Family A Member 1 3
  • ATP-Binding Cassette Transporter A1 3
  • ATP-Binding Cassette Transporter 1 4
  • ATP-Binding Cassette 1 4
  • Tangier Disease 2
  • Membrane-Bound 3
  • EC 3.6.3.41 58
  • EC 2.8.1.8 58
  • EC 2.7.7.8 58
  • EC 3.6.3 58
  • HDLDT1 3
  • TGD 3

External Ids for ABCA1 Gene

Previous HGNC Symbols for ABCA1 Gene

  • ABC1
  • HDLDT1

Previous GeneCards Identifiers for ABCA1 Gene

  • GC09M098343
  • GC09M099286
  • GC09M101000
  • GC09M102923
  • GC09M104622
  • GC09M106583
  • GC09M107543
  • GC09M077145

Summaries for ABCA1 Gene

Entrez Gene Summary for ABCA1 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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA1 Gene

ABCA1 (ATP Binding Cassette Subfamily A Member 1) is a Protein Coding gene. Diseases associated with ABCA1 include Tangier Disease and Hypoalphalipoproteinemia. Among its related pathways are Nuclear Receptors in Lipid Metabolism and Toxicity and Statin Pathway. GO annotations related to this gene include receptor binding and phospholipid binding. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA1 Gene

  • cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.

Gene Wiki entry for ABCA1 Gene

Additional gene information for ABCA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA1 Gene

Genomics for ABCA1 Gene

Regulatory Elements for ABCA1 Gene

Enhancers for ABCA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H104871 1.7 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +55.5 55512 3 SAP130 JUN CEBPG THRB GATA3 POLR2A FOSL2 FOS MAFK CEBPB ABCA1 LOC105376196 GC09M104843 LOC102724761
GH09H105006 1.6 FANTOM5 Ensembl ENCODE dbSUPER 30.6 -79.0 -78967 1 SMARCC1 JUN CEBPB MAX CEBPG EP300 RAD21 ZKSCAN1 JUND POLR2A ABCA1 ENSG00000230013 LOC105376196 FSD1L LOC105376197
GH09H105051 1.7 FANTOM5 Ensembl ENCODE dbSUPER 26.9 -125.6 -125609 3 FOXA2 ATF1 BATF RARA FOS ATF7 CEBPB JUNB PPARG ZNF589 ABCA1 LOC105376196 ENSG00000230013 FSD1L LOC105376197
GH09H105063 2 FANTOM5 Ensembl ENCODE dbSUPER 20.5 -136.9 -136916 3 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 YY1 ZNF143 ZNF207 FOS ABCA1 RALGAPA1P1 FKTN ENSG00000230013 NIPSNAP3A FSD1L LOC105376197
GH09H104967 1.6 FANTOM5 Ensembl ENCODE 23.1 -40.5 -40473 1 PKNOX1 ATF1 ARID4B DMAP1 YY1 ETS1 ZNF143 RUNX3 SP3 SP5 LOC105376196 ABCA1 FSD1L SLC44A1 GC09P104984
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCA1 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000239041 1146 3001 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 RUNX3 SP5 MXD4

Genomic Location for ABCA1 Gene

Chromosome:
9
Start:
104,781,002 bp from pter
End:
104,928,246 bp from pter
Size:
147,245 bases
Orientation:
Minus strand

Genomic View for ABCA1 Gene

Genes around ABCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA1 Gene

Proteins for ABCA1 Gene

  • Protein details for ABCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95477-ABCA1_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 1
    Protein Accession:
    O95477
    Secondary Accessions:
    • Q5VX33
    • Q96S56
    • Q96T85
    • Q9NQV4
    • Q9UN06
    • Q9UN07
    • Q9UN08
    • Q9UN09

    Protein attributes for ABCA1 Gene

    Size:
    2261 amino acids
    Molecular mass:
    254302 Da
    Quaternary structure:
    • Interacts with MEGF10.
    SequenceCaution:
    • Sequence=AAD49849.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA10005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABCA1 Gene

neXtProt entry for ABCA1 Gene

Selected DME Specific Peptides for ABCA1 Gene

O95477:
  • LDEPTTG
  • YVVLTSV
  • NGAGKTT
  • GAFVELF
  • LDEPTAG

Post-translational modifications for ABCA1 Gene

  • Palmitoylation by DHHC8 is essential for membrane localization.
  • Phosphorylation on Ser-2054 regulates phospholipid efflux.
  • Glycosylation at Asn14, Asn98, Asn151, posLast=161161, posLast=196196, Asn244, posLast=292292, posLast=337337, posLast=349349, posLast=400400, posLast=478478, Asn489, posLast=521521, Asn820, Asn1144, posLast=12941294, posLast=14531453, posLast=15041504, posLast=16371637, posLast=20442044, and Asn2238
  • Modification sites at PhosphoSitePlus

Domains & Families for ABCA1 Gene

Gene Families for ABCA1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCA1 Gene

Graphical View of Domain Structure for InterPro Entry

O95477

UniProtKB/Swiss-Prot:

ABCA1_HUMAN :
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Belongs to the ABC transporter superfamily. ABCA family.
Domain:
  • Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA1: view

Function for ABCA1 Gene

Molecular function for ABCA1 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily A,member 1,mouse ABC1 homolog,widely expressed,cholesterol carrying out of the cell for uptake into HDL particles
UniProtKB/Swiss-Prot Function:
cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.
UniProtKB/Swiss-Prot Induction:
By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202.

Enzyme Numbers (IUBMB) for ABCA1 Gene

Phenotypes From GWAS Catalog for ABCA1 Gene

Gene Ontology (GO) - Molecular Function for ABCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 23931754
GO:0005215 transporter activity IEA --
GO:0005515 protein binding IPI 12054535
GO:0005524 ATP binding IDA,IEA 11700048
GO:0005543 phospholipid binding IC 16702602
genes like me logo Genes that share ontologies with ABCA1: view
genes like me logo Genes that share phenotypes with ABCA1: view

Human Phenotype Ontology for ABCA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCA1 Gene

MGI Knock Outs for ABCA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ABCA1
  • Applied Biological Materials Clones for ABCA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for ABCA1 Gene

Localization for ABCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA1 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 ABCA1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 4
nucleus 3
peroxisome 2
cytosol 2
lysosome 2
golgi apparatus 2
endosome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS,IEA --
GO:0005887 integral component of plasma membrane IEA,IDA 10525055
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with ABCA1: view

Pathways & Interactions for ABCA1 Gene

genes like me logo Genes that share pathways with ABCA1: view

Gene Ontology (GO) - Biological Process for ABCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002790 peptide secretion IEA --
GO:0006497 protein lipidation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006810 transport IEA --
GO:0006911 phagocytosis, engulfment IEA --
genes like me logo Genes that share ontologies with ABCA1: view

No data available for SIGNOR curated interactions for ABCA1 Gene

Drugs & Compounds for ABCA1 Gene

(49) Drugs for ABCA1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Probucol Approved Pharma inhibitor, Target 22
Glyburide Approved Pharma Channel blocker, Target, inhibitor Kir6 (KATP) channel blocker 116
atorvastatin Approved Pharma Competitive, Inhibitor 0
Fenofibrate Approved Pharma 171
Pravastatin Approved Pharma Competitive, Inhibitor 153

(33) Additional Compounds for ABCA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCA1: view

Transcripts for ABCA1 Gene

Unigene Clusters for ABCA1 Gene

ATP-binding cassette, sub-family A (ABC1), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ABCA1
  • Applied Biological Materials Clones for ABCA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2:
SP3: -
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a ·
SP1: -
SP2:
SP3:
SP4:

ExUns: 49b ^ 50a · 50b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ABCA1 Gene

GeneLoc Exon Structure for
ABCA1
ECgene alternative splicing isoforms for
ABCA1

Expression for ABCA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA1 Gene

This gene is overexpressed in Adrenal Gland (x4.8).

Protein differential expression in normal tissues from HIPED for ABCA1 Gene

This gene is overexpressed in Pancreatic juice (59.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCA1 Gene:

ABCA1

SOURCE GeneReport for Unigene cluster for ABCA1 Gene:

Hs.659274

mRNA Expression by UniProt/SwissProt for ABCA1 Gene:

O95477-ABCA1_HUMAN
Tissue specificity: Widely expressed, but most abundant in macrophages.

Evidence on tissue expression from TISSUES for ABCA1 Gene

  • Liver(4.7)
  • Skin(4.4)
  • Nervous system(3.4)
  • Blood(3)
  • Intestine(2.4)
  • Heart(2.2)
  • Muscle(2.2)
  • Kidney(2.1)
  • Lung(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ABCA1: view

Primer Products

No data available for Protein tissue co-expression partners for ABCA1 Gene

Orthologs for ABCA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCA1 33 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia ABCA1 33 34
  • 90.84 (n)
cow
(Bos Taurus)
Mammalia ABCA1 33 34
  • 90.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCA1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca1 33 16 34
  • 88.99 (n)
rat
(Rattus norvegicus)
Mammalia Abca1 33
  • 88.37 (n)
chicken
(Gallus gallus)
Aves ABCA1 33 34
  • 78.5 (n)
lizard
(Anolis carolinensis)
Reptilia ABCA1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abca1 33
  • 74.4 (n)
zebrafish
(Danio rerio)
Actinopterygii abca1b 33 34
  • 73 (a)
abca1a 33 34
  • 70.78 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4770 33
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 35
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea abt-2 33
  • 45.87 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ABCA1 33
  • 47.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.341 34
  • 36 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11872 33
Species where no ortholog for ABCA1 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCA1 Gene

ENSEMBL:
Gene Tree for ABCA1 (if available)
TreeFam:
Gene Tree for ABCA1 (if available)

Paralogs for ABCA1 Gene

Variants for ABCA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA1 Gene

ABCA1_HUMAN-O95477
Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046].

Sequence variations from dbSNP and Humsavar for ABCA1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs137854494 Pathogenic, High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] 104,806,276(-) CTGTG(C/T)GTCCC nc-transcript-variant, reference, missense
rs137854495 Pathogenic, High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] 104,822,514(-) TGGAG(C/T)GGGGA nc-transcript-variant, reference, missense
rs137854496 Pathogenic, High density lipoprotein deficiency 1 (HDLD1) [MIM:205400], High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] 104,831,048(-) CGTCT(C/G/T)GGGGG nc-transcript-variant, reference, missense
rs137854497 Pathogenic, High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] 104,804,668(-) CATTT(C/T)GGATT nc-transcript-variant, reference, synonymous-codon, missense
rs137854498 Pathogenic, High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] 104,798,504(-) AGGAG(A/C/T)GGGTC nc-transcript-variant, reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for ABCA1 Gene

Variant ID Type Subtype PubMed ID
dgv12828n54 CNV loss 21841781
dgv12829n54 CNV loss 21841781
dgv12830n54 CNV loss 21841781
dgv12831n54 CNV loss 21841781
dgv12832n54 CNV loss 21841781
dgv1366e199 CNV deletion 23128226
esv22475 CNV loss 19812545
esv2738878 CNV deletion 23290073
esv2738879 CNV deletion 23290073
esv274886 CNV gain+loss 21479260
esv3545242 CNV deletion 23714750
esv3545243 CNV deletion 23714750
esv3621345 CNV loss 21293372
esv3891705 CNV loss 25118596
esv3891706 CNV gain 25118596
esv8704 CNV loss 19470904
nsv1124459 CNV deletion 24896259
nsv1137494 CNV deletion 24896259
nsv44 CNV insertion 15895083
nsv466471 CNV loss 19166990
nsv509315 CNV insertion 20534489
nsv524600 CNV gain 19592680
nsv528797 CNV loss 19592680
nsv615069 CNV loss 21841781
nsv615074 CNV loss 21841781
nsv615075 CNV loss 21841781
nsv615084 CNV loss 21841781
nsv615086 CNV loss 21841781
nsv615089 CNV loss 21841781
nsv6650 CNV deletion 18451855
nsv6651 CNV insertion 18451855
nsv6652 CNV deletion 18451855
nsv825026 CNV loss 20364138

Variation tolerance for ABCA1 Gene

Residual Variation Intolerance Score: 2.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.16; 93.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA1 Gene

Human Gene Mutation Database (HGMD)
ABCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA1

Disorders for ABCA1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for ABCA1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tangier disease
  • familial alpha-lipoprotein deficiency
hypoalphalipoproteinemia
  • hdl deficiency, type 2
abca1-related disorders
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
abca1-associated familial high density lipoprotein deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ABCA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCA1_HUMAN
  • High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. {ECO:0000269 PubMed:10431236, ECO:0000269 PubMed:10431237, ECO:0000269 PubMed:10706591, ECO:0000269 PubMed:10938021, ECO:0000269 PubMed:11086027, ECO:0000269 PubMed:11257260, ECO:0000269 PubMed:11476961, ECO:0000269 PubMed:11476965, ECO:0000269 PubMed:11785958, ECO:0000269 PubMed:12111371, ECO:0000269 PubMed:12111381, ECO:0000269 PubMed:12407001, ECO:0000269 PubMed:14576201, ECO:0000269 PubMed:15019541, ECO:0000269 PubMed:15158913, ECO:0000269 PubMed:15262183, ECO:0000269 PubMed:15297675, ECO:0000269 PubMed:15520867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. {ECO:0000269 PubMed:10431236, ECO:0000269 PubMed:10533863, ECO:0000269 PubMed:11086027, ECO:0000269 PubMed:12009425, ECO:0000269 PubMed:12204794, ECO:0000269 PubMed:15722566}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCA1

Genetic Association Database (GAD)
ABCA1
Human Genome Epidemiology (HuGE) Navigator
ABCA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA1
genes like me logo Genes that share disorders with ABCA1: view

No data available for Genatlas for ABCA1 Gene

Publications for ABCA1 Gene

  1. Screening for functional sequence variations and mutations in ABCA1. (PMID: 15262183) Probst MC … Schmitz G (Atherosclerosis 2004) 3 4 22 45 60
  2. ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. (PMID: 12709788) Tan JH … Heng CK (Human genetics 2003) 3 4 22 45 60
  3. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. (PMID: 12624133) Cenarro A … Spanish FH group (Journal of medical genetics 2003) 3 4 22 45 60
  4. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. (PMID: 10431238) Rust S … Assmann G (Nature genetics 1999) 2 3 4 22 60
  5. Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women. (PMID: 19489872) Lamon-Fava S … Herrington DM (Clinical endocrinology 2010) 3 22 45 60

Products for ABCA1 Gene

  • Addgene plasmids for ABCA1

Sources for ABCA1 Gene

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