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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... See more...
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
- ATP-Binding Cassette Sub-Family A Member 1 3 4
- Phospholipid-Transporting ATPase ABCA1 3 4
- Cholesterol Efflux Regulatory Protein 3 4
- ABC-1 3 4
- ABC1 3 4
- CERP 3 4
- TGD 2 3
- ATP-Binding Cassette Transporter A1 3
- ATP-Binding Cassette Transporter 1 4
External Ids for ABCA1 Gene
- HGNC: 29
- Entrez Gene: 19
- Ensembl: ENSG00000165029
- OMIM: 600046
- UniProtKB: O95477
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
-
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 both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
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, Primary, 1. Among its related pathways are Lipoprotein metabolism and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and phospholipid binding. An important paralog of this gene is ABCA4.
UniProtKB/Swiss-Prot Summary for ABCA1 Gene
-
Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Thereby, participates in phospholipid transfer to apoliproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apoliproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981).
Additional gene information for ABCA1 Gene
- HGNC(29)
- Entrez Gene(19)
- Ensembl(ENSG00000165029)
- OMIM(600046)
- UniProtKB(O95477)
- Open Targets Platform(ENSG00000165029)
- Monarch Initiative
- Search for ABCA1 at DataMed
- Search for ABCA1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCA1 Gene
Genomics for ABCA1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ABCA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ABCA1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCA1
- Top Transcription factor binding sites by QIAGEN in the ABCA1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- CREB
- deltaCREB
- Sp1
- STAT1
Genomic Locations for ABCA1 Gene
Genomic Locations for ABCA1 Gene
- chr9:104,781,006-104,928,232
- (GRCh38/hg38)
- Size:
- 147,227 bases
- Orientation:
- Minus strand
- chr9:107,543,283-107,690,527
- (GRCh37/hg19)
- 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:
-
- 9q31.1 by HGNC
- 9q31.1 by Entrez Gene
- 9q31.1 by Ensembl
ABCA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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:
- Phospholipid-transporting ATPase ABCA1
- Protein Accession:
- O95477
- 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 (PubMed:17205124). May interact with APOE1; functionally associated with APOE1 in the biogenesis of HDLs (PubMed:14754908).
- SequenceCaution:
-
- Sequence=AAD49849.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA10005.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for ABCA1 Gene
Selected DME Specific Peptides for ABCA1 Gene
- O95477:
-
- LDEPTTG
- YVVLTSV
- NGAGKTT
- GAFVELF
- LDEPTAG
Post-translational modifications for ABCA1 Gene
- Phosphorylation on Ser-2054 regulates phospholipid efflux.
- Palmitoylation by DHHC8 is essential for membrane localization.
-
Glycosylation at Asn14, Asn98, Asn151, Asn161, Asn196, Asn244, Asn292, Asn337, Asn349, Asn400, Asn478, Asn489, Asn521, Asn820, Asn1144, Asn1294, Asn1453, Asn1504, Asn1637, Asn2044, and Asn2238
- NX_O95477 (NX_O95477-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- ABCA1_HUMAN (1020)
Other Protein References for ABCA1 Gene
Antibody Products
- LifeSpan BioSciences ABCA1 Antibody (LS-B3038) and ABCA1 Antibody (LS-B7326)
- G Biosciences Immunotag™ ABCA1 Antibody
- HUABIO ABCA1 Antibody (R1510-42)
- Novus Biologicals Antibodies for ABCA1
-
Abcam antibodies for ABCA1
- Invitrogen Antibodies for ABCA1 (AFLGC-Abca1)
- antibodies-online: Show 29 available ABCA1 Antibodies ranked by validation data
- Compare Top ABCA1 Antibodies
-
Recommended
- 94 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 18 FACS Antibodies (anti-human)
- 8 IHC (p) Antibodies (anti-human)
- 2 IF Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 48 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 8 IHC (p) Antibodies (anti-rat)
- 4 FACS Antibodies (anti-rat)
- 85 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 19 FACS Antibodies (anti-mouse)
- 8 IHC (p) Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ABCA1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ABCA1
- Origene Custom Protein Services for ABCA1
- Novus Biologicals proteins for ABCA1
-
Signalway Proteins for ABCA1
-
Abcam proteins for ABCA1
Assay Products
- Novus Biologicals ELISA Kits for ABCA1
- antibodies-online: Show 51 available ABCA1 Elisa Kits ranked by validation data
- Compare Top ABCA1 Elisa Kits
-
Quality Products:
- ABIN1113622
- ABIN414587
- ABIN1028171
- ABIN5522753
- ABIN5669001
- ABIN366984
- ABIN5593390
- ABIN512846
- ABIN454479
- ABIN5652059
- ABIN1568098
- ABIN1113617
- ABIN424698
- ABIN5522754
- ABIN810117
- ABIN5670022
- ABIN627525
- ABIN5652060
- ABIN2541817
- ABIN2945467
- ABIN1113616
- ABIN5522755
- ABIN5670687
- ABIN626694
- ABIN2945459
- ABIN5068448
- ABIN1559497
- ABIN1051206
- ABIN6212435
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ABCA1 Gene
- GenScript: Design optimal peptide antigens:
-
- ABCA1 protein (A5D8U6_HUMAN)
- Cholesterol efflux regulatory protein (ABCA1_HUMAN)
- ATP-binding cassette, sub-family A (ABC1), member 1 (B2RUU2_HUMAN)
- ATP-binding cassette transporter A1 (B7XCW9_HUMAN)
- ATP-binding cassette transporter-1 (Q9H002_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O95477UniProtKB/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.
Function for ABCA1 Gene
Molecular function for ABCA1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Thereby, participates in phospholipid transfer to apoliproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apoliproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1; Evidence={ECO:0000269|PubMed:24097981};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38583, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57643, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:24097981};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38567, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57262, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:24097981};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + sphingomyelin(in) = ADP + H(+) + phosphate + sphingomyelin(out); Xref=Rhea:RHEA:38903, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:24097981};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + cholesterol(in) + H2O = ADP + cholesterol(out) + H(+) + phosphate; Xref=Rhea:RHEA:39051, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000305|PubMed:10533863, ECO:0000305|PubMed:14754908, ECO:0000305|PubMed:24097981};.
- UniProtKB/Swiss-Prot Induction:
- By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylcholine and to a lesser degree by phosphatidylserine and sphingomyelin. Phospholipid translocase activity is highly reduced by berylium fluoride and aluminum flouride and reduced by N-ethylmaleimide.
- 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 : sterol dependent regulated in monocytes and macrophages
Enzyme Numbers (IUBMB) for ABCA1 Gene
Phenotypes From GWAS Catalog for ABCA1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005102 | signaling receptor binding | IPI | 23931754 |
| GO:0005319 | lipid transporter activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 12084722 |
| GO:0005524 | ATP binding | IEA,IDA | 11700048 |
Phenotypes for ABCA1 Gene
- MGI mutant phenotypes for ABCA1:
-
inferred from 9 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- hematopoietic system phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for ABCA1:
Animal Models for ABCA1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABCA1 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for ABCA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCA1
miRNA for ABCA1 Gene
- miRTarBase miRNAs that target ABCA1
-
- mmu-miR-33-5p (MIRT003669)
- hsa-miR-33b-5p (MIRT003670)
- hsa-miR-33a-5p (MIRT003672)
- hsa-miR-26a-5p (MIRT006711)
- hsa-miR-26b-5p (MIRT006713)
- hsa-miR-19a-3p (MIRT007121)
- hsa-miR-27a-3p (MIRT007123)
- mmu-miR-758-3p (MIRT007715)
- mmu-miR-301b-3p (MIRT008089)
- mmu-miR-425-5p (MIRT008752)
- mmu-miR-223-3p (MIRT009760)
- mmu-miR-17-5p (MIRT010183)
- mmu-miR-340-5p (MIRT010589)
- mmu-miR-26a-5p (MIRT011372)
- mmu-miR-9-5p (MIRT015489)
- mmu-miR-144-3p (MIRT053094)
- hsa-miR-128-3p (MIRT054227)
- hsa-miR-27b-3p (MIRT054624)
- hsa-miR-613 (MIRT437926)
- hsa-miR-20a-5p (MIRT441312)
- hsa-miR-106b-5p (MIRT441313)
- hsa-miR-519d-3p (MIRT728414)
- hsa-miR-93-5p (MIRT728415)
- hsa-miR-17-5p (MIRT728416)
- hsa-miR-20b-5p (MIRT728417)
- mmu-miR-33-3p (MIRT733045)
- gga-miR-23b-5p (MIRT733242)
- gga-miR-199-5p (MIRT733243)
- hsa-miR-33a-3p (MIRT733405)
- hsa-miR-33b-3p (MIRT733858)
- hsa-miR-148a-5p (MIRT734877)
- hsa-miR-302a-3p (MIRT735363)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCA1
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Clone Products
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- Sino Biological Human cDNA Clone for ABCA1
- Addgene plasmids for ABCA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCA1
Cell Line Products
-
Horizon Cell Lines for ABCA1
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. Cell membrane. Endosome.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endosome | 5 |
| endoplasmic reticulum | 4 |
| extracellular | 3 |
| nucleus | 3 |
| golgi apparatus | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| cytosol | 2 |
| lysosome | 2 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005768 | endosome | IEA,IDA | 24097981 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IEA,IDA | 10525055 |
Pathways & Interactions for ABCA1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 2 | Lipoprotein metabolism | ||
| 3 | Folate Metabolism | ||
| 4 | Statin Pathway |
.71
|
|
| 5 | Metabolism |
.40
|
|
Pathways by source for ABCA1 Gene
7 BioSystems pathways for ABCA1 Gene
3 KEGG pathways for ABCA1 Gene
2 GeneGo (Thomson Reuters) pathways for ABCA1 Gene
- Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
- Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
Interacting Proteins for ABCA1 Gene
Selected Interacting proteins:
O95477-ABCA1_HUMAN
ENSP00000363868
for ABCA1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ABCA1
| 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:0006869 | lipid transport | IBA | 21873635 |
| GO:0006911 | phagocytosis, engulfment | IEA | -- |
Drugs & Compounds for ABCA1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Probucol | Approved, Investigational | Pharma | Target, inhibitor | 25 | ||
| Glyburide | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Target, inhibitor | Kir6 (KATP) channel blocker | 127 | |
| Atorvastatin | Approved | Pharma | Inhibitor, Competitive | 893 | ||
| Fenofibrate | Approved | Pharma | PPARalpha agonist | 185 | ||
| Pravastatin | Approved | Pharma | Inhibitor, Competitive | 167 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ABCA1 Gene
mRNA/cDNA for ABCA1 Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000374736 10408 nts (view in UCSC)
- ENST00000494467 807 nts (view in UCSC)
- ENST00000423487 1540 nts (view in UCSC)
- ENST00000374733 923 nts (view in UCSC)
CRISPR Products
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-
OriGene CRISPR knockouts for ABCA1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCA1
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for ABCA1
- Addgene plasmids for ABCA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCA1
| 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
Expression for ABCA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- Mature B-Cells Peripheral Blood
- Brain (Nervous System)
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
-
Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for ABCA1 Gene
This gene is overexpressed in Adrenal Gland (x4.8).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCA1
SOURCE GeneReport for Unigene cluster for ABCA1 Gene:
Hs.659274mRNA 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(4.8)
- Skin(4.6)
- Nervous system(3.8)
- Blood(3.4)
- Muscle(3.1)
- Heart(3.1)
- Intestine(3.1)
- Spleen(3)
- Kidney(2.8)
- Adrenal gland(2.7)
- Bone marrow(2.7)
- Lung(2.6)
- Pancreas(2.5)
- Gall bladder(2.5)
- Lymph node(2.4)
- Eye(2.4)
- Thyroid gland(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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for ABCA1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ABCA1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ABCA1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ABCA1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ABCA1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCA1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Abca1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Abca1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | ABCA1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ABCA1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abca1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | abca1b 30 31 |
|
OneToMany | |
| abca1a 30 31 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4770 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | BG:DS00797.5 32 |
|
|
|
| Worm (Caenorhabditis elegans) |
Secernentea | abt-2 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ABCA1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.341 31 |
|
ManyToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11872 30 |
|
- Species where no ortholog for ABCA1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ABCA1: view image
Paralogs for ABCA1 Gene
Paralogs for ABCA1 Gene
(16) SIMAP similar genes for ABCA1 Gene using alignment to 8 proteins:
- ABCA1_HUMAN
- A5D8U6_HUMAN
- B1AMI1_HUMAN
- B1AMI2_HUMAN
- B2RUU2_HUMAN
- B7XCW9_HUMAN
- L8E884_HUMAN
- Q9NP93_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCA1 Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713117 | Likely Benign: not provided | 104,814,451(-) | T/G | MISSENSE_VARIANT | |
| 716922 | Benign: not provided | 104,822,594(-) | A/G | SYNONYMOUS_VARIANT | |
| 720670 | Likely Benign: not provided | 104,829,142(-) | G/C | INTRON_VARIANT | |
| 728873 | Benign: not provided | 104,831,813(-) | G/A | SYNONYMOUS_VARIANT | |
| 773913 | Benign: not provided | 104,794,512(-) | TAA/T | INTRON_VARIANT |
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)
Additional Variant Information for ABCA1 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for ABCA1 Gene
(43) MalaCards diseases for ABCA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tangier disease |
|
|
| hypoalphalipoproteinemia, primary, 1 |
|
|
| hypoalphalipoproteinemia, primary, 2 |
|
|
| hypolipoproteinemia |
|
|
| hypoalphalipoproteinemia |
|
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:14754908, ECO:0000269 PubMed:15019541, ECO:0000269 PubMed:15158913, ECO:0000269 PubMed:15262183, ECO:0000269 PubMed:15297675, ECO:0000269 PubMed:15520867, ECO:0000269 PubMed:24097981}. 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, ECO:0000269 PubMed:24097981}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ABCA1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ABCA1 Gene
Publications for ABCA1 Gene
- Multiple rare alleles contribute to low plasma levels of HDL cholesterol. (PMID: 15297675) Cohen JC … Hobbs HH (Science (New York, N.Y.) 2004) 3 4 23 41
- Screening for functional sequence variations and mutations in ABCA1. (PMID: 15262183) Probst MC … Schmitz G (Atherosclerosis 2004) 3 4 23 41
- 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 23 41
- 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 23 41
- 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 23
ExternalLinks
Products for ABCA1 Gene
- Custom Antibody Services
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- OriGene qPCR primer pairs for ABCA1
- OriGene CRISPR knockouts for ABCA1
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- Sino Biological Human cDNA Clone for ABCA1
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for ABCA1
- Novus Biologicals proteins for ABCA1
- Novus Biologicals ELISA Kits for ABCA1
- Browse Antibodies
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- Abcam antibodies for ABCA1
- Abcam proteins for ABCA1
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- Invitrogen Antibodies for ABCA1 (AFLGC-Abca1)
- VectorBuilder Custom and pre-made DNA vectors for ABCA1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ABCA1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ABCA1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ABCA1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ABCA1
- Addgene plasmids for ABCA1
- antibodies-online: Show 29 available ABCA1 Antibodies ranked by validation data
- Compare Top ABCA1 Antibodies
- Recommended
- 94 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 18 FACS Antibodies (anti-human)
- 8 IHC (p) Antibodies (anti-human)
- 2 IF Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 48 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 8 IHC (p) Antibodies (anti-rat)
- 4 FACS Antibodies (anti-rat)
- 85 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 19 FACS Antibodies (anti-mouse)
- 8 IHC (p) Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- antibodies-online: Show 51 available ABCA1 Elisa Kits ranked by validation data
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- ABIN1113622
- ABIN414587
- ABIN1028171
- ABIN5522753
- ABIN5669001
- ABIN366984
- ABIN5593390
- ABIN512846
- ABIN454479
- ABIN5652059
- ABIN1568098
- ABIN1113617
- ABIN424698
- ABIN5522754
- ABIN810117
- ABIN5670022
- ABIN627525
- ABIN5652060
- ABIN2541817
- ABIN2945467
- ABIN1113616
- ABIN5522755
- ABIN5670687
- ABIN626694
- ABIN2945459
- ABIN5068448
- ABIN1559497
- ABIN1051206
- ABIN6212435
- antibodies-online: Show 9 available ABCA1 Proteins ranked by validation data
- Compare Top ABCA1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ABCA1
- Search Santa Cruz Biotechnology (SCBT) for ABCA1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ABCA1
- Horizon Cell Lines for ABCA1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCA1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCA1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ABCA1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCA1
Sources for ABCA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
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- (118) HPO
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- (122) ENCODE
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- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (178) MirGeneDB