Details for: ABCA1

Gene ID: 19

Symbol: ABCA1

Ensembl ID: ENSG00000165029

Description: ATP binding cassette subfamily A member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 275.5790
    Cell Significance Index: -42.8700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 168.5831
    Cell Significance Index: -42.7600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 91.3953
    Cell Significance Index: -37.1300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 38.9319
    Cell Significance Index: -37.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.7863
    Cell Significance Index: -42.8900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.1599
    Cell Significance Index: -43.2900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.3968
    Cell Significance Index: -29.3200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.8666
    Cell Significance Index: -42.8800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 9.3096
    Cell Significance Index: 156.8200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.7102
    Cell Significance Index: 126.2100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 3.2111
    Cell Significance Index: 26.1900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.8314
    Cell Significance Index: 561.9000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.5823
    Cell Significance Index: 50.4000
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 2.0968
    Cell Significance Index: 29.3200
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.9067
    Cell Significance Index: 24.0100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.7577
    Cell Significance Index: 45.1800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.2840
    Cell Significance Index: 8.7000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2730
    Cell Significance Index: 97.6900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.2726
    Cell Significance Index: 31.0500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.1615
    Cell Significance Index: 32.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8715
    Cell Significance Index: 86.2200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8234
    Cell Significance Index: 743.4900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7807
    Cell Significance Index: 140.7400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7192
    Cell Significance Index: 116.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7149
    Cell Significance Index: 98.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6374
    Cell Significance Index: 228.6300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.6227
    Cell Significance Index: 17.8500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5360
    Cell Significance Index: 65.9100
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.5209
    Cell Significance Index: 2.2700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3652
    Cell Significance Index: 39.7200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.3577
    Cell Significance Index: 5.2800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3327
    Cell Significance Index: 17.3300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.2979
    Cell Significance Index: 1.8000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2867
    Cell Significance Index: 20.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2849
    Cell Significance Index: 125.9400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.2802
    Cell Significance Index: 2.5800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2716
    Cell Significance Index: 187.8200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2341
    Cell Significance Index: 44.5500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2176
    Cell Significance Index: 5.4400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1908
    Cell Significance Index: 22.2300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1842
    Cell Significance Index: 2.8500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1469
    Cell Significance Index: 9.0300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1355
    Cell Significance Index: 9.3700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.1353
    Cell Significance Index: 84.4800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.1128
    Cell Significance Index: 1.6200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0584
    Cell Significance Index: 109.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0554
    Cell Significance Index: 11.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0252
    Cell Significance Index: 13.7700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0248
    Cell Significance Index: 1.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0065
    Cell Significance Index: 4.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0060
    Cell Significance Index: 0.2700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0046
    Cell Significance Index: 0.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0045
    Cell Significance Index: 0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0073
    Cell Significance Index: -13.5100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0136
    Cell Significance Index: -6.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0189
    Cell Significance Index: -29.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0204
    Cell Significance Index: -15.1200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0316
    Cell Significance Index: -0.8500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0319
    Cell Significance Index: -43.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0375
    Cell Significance Index: -3.8400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0427
    Cell Significance Index: -1.9900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0435
    Cell Significance Index: -31.8600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0471
    Cell Significance Index: -0.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0481
    Cell Significance Index: -27.1500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0487
    Cell Significance Index: -1.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0561
    Cell Significance Index: -42.4800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0788
    Cell Significance Index: -13.4500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0837
    Cell Significance Index: -10.7400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1107
    Cell Significance Index: -16.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1159
    Cell Significance Index: -33.3600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1508
    Cell Significance Index: -17.7800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1541
    Cell Significance Index: -8.6500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1612
    Cell Significance Index: -33.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2469
    Cell Significance Index: -28.2900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2904
    Cell Significance Index: -33.1500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3235
    Cell Significance Index: -41.8000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3306
    Cell Significance Index: -10.5900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3923
    Cell Significance Index: -40.8500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4499
    Cell Significance Index: -29.0300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4631
    Cell Significance Index: -28.3900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4731
    Cell Significance Index: -6.9900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4869
    Cell Significance Index: -38.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5347
    Cell Significance Index: -39.8500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6295
    Cell Significance Index: -13.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6317
    Cell Significance Index: -29.6900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6322
    Cell Significance Index: -42.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.6388
    Cell Significance Index: -40.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6468
    Cell Significance Index: -13.7800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6826
    Cell Significance Index: -18.2600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.6855
    Cell Significance Index: -12.6700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.6906
    Cell Significance Index: -11.9400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6917
    Cell Significance Index: -14.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.7063
    Cell Significance Index: -31.2400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.7091
    Cell Significance Index: -11.2500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.7443
    Cell Significance Index: -17.8500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7749
    Cell Significance Index: -20.3800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.7936
    Cell Significance Index: -40.1000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.8410
    Cell Significance Index: -44.1600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.8623
    Cell Significance Index: -11.7700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.8670
    Cell Significance Index: -22.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Transmembrane protein**: ABCA1 is a transmembrane protein, with 10 transmembrane domains that form a hydrophobic core, allowing it to interact with lipids and facilitate their transport. 2. **Cholesterol efflux transporter**: ABCA1 is a cholesterol efflux transporter that recognizes and binds to oxidized LDL (oxLDL) particles, allowing them to be transferred to HDL particles. 3. **HDL assembly**: ABCA1 is involved in the assembly of HDL particles by facilitating the incorporation of cholesterol, phospholipids, and apolipoproteins into the HDL core. 4. **Reverse cholesterol transport**: ABCA1 promotes reverse cholesterol transport by facilitating the transfer of cholesterol from peripheral tissues to the liver for excretion. **Pathways and Functions** 1. **Cholesterol metabolism**: ABCA1 is involved in the regulation of cholesterol metabolism, including cholesterol efflux, uptake, and storage. 2. **Lipid metabolism**: ABCA1 plays a role in lipid metabolism, including the regulation of HDL and LDL cholesterol levels. 3. **Inflammation**: ABCA1 has anti-inflammatory properties, as it reduces the levels of oxLDL and subsequently inhibits the activation of macrophages. 4. **Cellular response to lipids**: ABCA1 is involved in the cellular response to lipids, including the regulation of lipid metabolism and the maintenance of cellular cholesterol homeostasis. **Clinical Significance** 1. **Tangier disease**: Mutations in the ABCA1 gene have been associated with Tangier disease, a rare genetic disorder characterized by severely impaired HDL cholesterol levels, leading to increased risk of atherosclerosis and cardiovascular disease. 2. **Atherosclerosis**: Impaired ABCA1 function has been linked to the development of atherosclerosis, a condition characterized by the buildup of cholesterol-rich plaques in the arterial walls. 3. **Hyperlipidemia**: ABCA1 dysfunction has been implicated in various forms of hyperlipidemia, including familial hypercholesterolemia and familial dyslipidemia. 4. **Cardiovascular disease**: Impaired ABCA1 function has been associated with an increased risk of cardiovascular disease, including myocardial infarction and stroke. In conclusion, the ABCA1 gene plays a critical role in maintaining cholesterol homeostasis and lipid metabolism, and its dysfunction has been implicated in various diseases, including Tangier disease, atherosclerosis, and cardiovascular disease.

Genular Protein ID: 4146959044

Symbol: ABCA1_HUMAN

Name: ATP-binding cassette sub-family A member 1

UniProtKB Accession Codes:

O95477 Q5VX33 Q96S56 Q96T85 Q9NQV4 Q9UN06 Q9UN07 Q9UN08 Q9UN09

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 26 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 1 EMBL 37 EMDB 6 Ensembl 1 ExpressionAtlas 1 GO 68 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 1 Rhea 8 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10884428

Title: Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter.

PubMed ID: 10884428

DOI: 10.1073/pnas.97.14.7987

PubMed ID: 11352567

Title: Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences.

PubMed ID: 11352567

DOI: 10.1006/geno.2000.6467

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 10092505

Title: Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages.

PubMed ID: 10092505

DOI: 10.1006/bbrc.1999.0406

PubMed ID: 10431238

Title: Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

PubMed ID: 10431238

DOI: 10.1038/11921

PubMed ID: 12196520

Title: Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux.

PubMed ID: 12196520

DOI: 10.1074/jbc.m204923200

PubMed ID: 11279031

Title: The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux.

PubMed ID: 11279031

DOI: 10.1074/jbc.m100218200

PubMed ID: 12032171

Title: Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway.

PubMed ID: 12032171

PubMed ID: 17205124

Title: Cooperation between engulfment receptors: the case of ABCA1 and MEGF10.

PubMed ID: 17205124

DOI: 10.1371/journal.pone.0000120

PubMed ID: 23931754

Title: ABCA12 regulates ABCA1-dependent cholesterol efflux from macrophages and the development of atherosclerosis.

PubMed ID: 23931754

DOI: 10.1016/j.cmet.2013.07.003

PubMed ID: 12763760

Title: Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.

PubMed ID: 12763760

DOI: 10.1161/01.atv.0000078520.89539.77

PubMed ID: 18354102

Title: Polymorphisms associated with cholesterol and risk of cardiovascular events.

PubMed ID: 18354102

DOI: 10.1056/nejmoa0706728

PubMed ID: 19556522

Title: Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function.

PubMed ID: 19556522

DOI: 10.1161/circresaha.108.193011

PubMed ID: 19258317

Title: Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1.

PubMed ID: 19258317

DOI: 10.1074/jbc.m900580200

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24097981

Title: Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PubMed ID: 24097981

DOI: 10.1074/jbc.m113.508812

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 14754908

Title: Molecular interactions between apoE and ABCA1: impact on apoE lipidation.

PubMed ID: 14754908

DOI: 10.1194/jlr.m300418-jlr200

PubMed ID: 28882873

Title: ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.

PubMed ID: 28882873

DOI: 10.1161/atvbaha.117.309574

PubMed ID: 35974019

Title: ABCA1 is an extracellular phospholipid translocase.

PubMed ID: 35974019

DOI: 10.1038/s41467-022-32437-3

PubMed ID: 10533863

Title: Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.

PubMed ID: 10533863

DOI: 10.1016/s0140-6736(99)07026-9

PubMed ID: 10431236

Title: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

PubMed ID: 10431236

DOI: 10.1038/11905

PubMed ID: 10431237

Title: The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

PubMed ID: 10431237

DOI: 10.1038/11914

PubMed ID: 11086027

Title: Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

PubMed ID: 11086027

DOI: 10.1172/jci10727

PubMed ID: 10706591

Title: Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.

PubMed ID: 10706591

PubMed ID: 10938021

Title: Common and rare ABCA1 variants affecting plasma HDL cholesterol.

PubMed ID: 10938021

DOI: 10.1161/01.atv.20.8.1983

PubMed ID: 11257260

Title: A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.

PubMed ID: 11257260

DOI: 10.1016/s0021-9150(00)00587-6

PubMed ID: 11257261

Title: Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease.

PubMed ID: 11257261

DOI: 10.1016/s0021-9150(00)00722-x

PubMed ID: 11476961

Title: Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.

PubMed ID: 11476961

DOI: 10.1016/s0925-4439(01)00053-9

PubMed ID: 11476965

Title: Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.

PubMed ID: 11476965

DOI: 10.1016/s0925-4439(01)00058-8

PubMed ID: 11238261

Title: Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.

PubMed ID: 11238261

DOI: 10.1161/01.cir.103.9.1198

PubMed ID: 12204794

Title: ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.

PubMed ID: 12204794

DOI: 10.1016/s0021-9150(02)00106-5

PubMed ID: 12009425

Title: Novel ABCA1 compound variant associated with HDL cholesterol deficiency.

PubMed ID: 12009425

DOI: 10.1016/s0925-4439(02)00066-2

PubMed ID: 11785958

Title: Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency.

PubMed ID: 11785958

DOI: 10.1006/bbrc.2001.6219

PubMed ID: 12407001

Title: Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T.

PubMed ID: 12407001

PubMed ID: 12111381

Title: Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease.

PubMed ID: 12111381

DOI: 10.1007/s100380200044

PubMed ID: 12111371

Title: Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.

PubMed ID: 12111371

DOI: 10.1007/s100380200051

PubMed ID: 14576201

Title: Novel polypyrimidine variation (IVS46: del T -39._.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease.

PubMed ID: 14576201

DOI: 10.1161/01.res.0000102957.84247.8f

PubMed ID: 12709788

Title: ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.

PubMed ID: 12709788

DOI: 10.1007/s00439-003-0943-3

PubMed ID: 12966036

Title: Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.

PubMed ID: 12966036

DOI: 10.1093/hmg/ddg314

PubMed ID: 12624133

Title: A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.

PubMed ID: 12624133

DOI: 10.1136/jmg.40.3.163

PubMed ID: 15262183

Title: Screening for functional sequence variations and mutations in ABCA1.

PubMed ID: 15262183

DOI: 10.1016/j.atherosclerosis.2004.02.019

PubMed ID: 15019541

Title: Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

PubMed ID: 15019541

DOI: 10.1016/j.atherosclerosis.2003.11.009

PubMed ID: 15158913

Title: Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.

PubMed ID: 15158913

DOI: 10.1016/j.bbadis.2004.01.007

PubMed ID: 15520867

Title: Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

PubMed ID: 15520867

DOI: 10.1172/jci20361

PubMed ID: 15297675

Title: Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

PubMed ID: 15297675

DOI: 10.1126/science.1099870

PubMed ID: 15790791

Title: A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome.

PubMed ID: 15790791

DOI: 10.1182/blood-2004-05-2056

PubMed ID: 16226177

Title: Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population.

PubMed ID: 16226177

DOI: 10.1016/j.jacc.2005.06.066

PubMed ID: 15722566

Title: Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.

PubMed ID: 15722566

DOI: 10.1194/jlr.d400038-jlr200

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 2261
  • Mass: 254302
  • Checksum: 21A2CF8F3F518D6D
  • Sequence:
    • MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA 
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT 
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH 
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL 
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI 
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK 
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS 
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS 
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG 
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV 
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV 
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV 
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS 
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW 
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS 
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL 
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG 
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ 
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS 
SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI 
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE 
TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK 
GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ 
PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP 
VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL 
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK 
HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK 
GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIC VIFAMSFVPA SFVVFLIQER 
VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL 
LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN 
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG 
VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI 
YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN 
IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK 
YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT 
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG 
LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF 
AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V

Genular Protein ID: 1476464448

Symbol: B7XCW9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7XCW9

Database IDs:

ARBA 7 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 8 Gene3D 1 InterPro 6 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 2 SMART 1 SUPFAM 1

Sequence Information:

  • Length: 2261
  • Mass: 254355
  • Checksum: 74AEC9E3EF8C80BA
  • Sequence:
    • MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA 
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT 
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH 
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL 
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI 
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK 
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS 
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS 
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG 
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV 
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV 
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV 
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS 
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW 
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS 
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL 
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG 
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ 
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS 
SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI 
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE 
TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK 
GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ 
PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP 
VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL 
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK 
HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK 
GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIR VIFAMSFVPA SFVVFLIQER 
VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL 
LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN 
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG 
VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI 
YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN 
IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK 
YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT 
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG 
LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF 
AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V

Genular Protein ID: 1513130989

Symbol: B2RUU2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2RUU2

Database IDs:

ARBA 7 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 8 Gene3D 1 IntAct 1 InterPro 6 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 2 SMART 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 2261
  • Mass: 254330
  • Checksum: 1BCCD36DC24D6286
  • Sequence:
    • MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA 
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT 
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH 
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL 
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI 
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK 
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS 
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS 
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG 
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV 
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV 
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV 
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWRDY VGFTLKIFAS 
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW 
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS 
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL 
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG 
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ 
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS 
SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI 
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE 
TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK 
GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ 
PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP 
VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL 
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK 
HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK 
GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIC VIFAMSFVPA SFVVFLIQER 
VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL 
LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN 
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG 
VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI 
YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN 
IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK 
YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT 
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG 
LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF 
AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.