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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.86
    Marker Score: 50747
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.61
    Marker Score: 3007
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.61
    Marker Score: 8559
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 2.54
    Marker Score: 929
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.33
    Marker Score: 49677
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.21
    Marker Score: 1230
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.11
    Marker Score: 2114
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.04
    Marker Score: 1138.5
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.97
    Marker Score: 10613
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.85
    Marker Score: 1220
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.75
    Marker Score: 11266
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.74
    Marker Score: 1504
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.73
    Marker Score: 589
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.72
    Marker Score: 7422
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.67
    Marker Score: 384
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.56
    Marker Score: 3004
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.55
    Marker Score: 1863
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.53
    Marker Score: 3599
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.51
    Marker Score: 6273
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167882
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.46
    Marker Score: 833
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.38
    Marker Score: 22207
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.36
    Marker Score: 1538
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.36
    Marker Score: 437
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.36
    Marker Score: 1690
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.35
    Marker Score: 49725.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.33
    Marker Score: 45209.5
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.32
    Marker Score: 29594.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.3
    Marker Score: 20315
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.29
    Marker Score: 486
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.29
    Marker Score: 708
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.28
    Marker Score: 766
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.27
    Marker Score: 956
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.18
    Marker Score: 779
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.18
    Marker Score: 1811
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.17
    Marker Score: 794
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.13
    Marker Score: 1208
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.13
    Marker Score: 547.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.11
    Marker Score: 759
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.1
    Marker Score: 457
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.09
    Marker Score: 270
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.09
    Marker Score: 4202
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.07
    Marker Score: 530.5
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.07
    Marker Score: 277
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.06
    Marker Score: 2771
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.05
    Marker Score: 330
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.04
    Marker Score: 11766.5
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251704
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.01
    Marker Score: 7764
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1
    Marker Score: 1109.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1
    Marker Score: 6034
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1
    Marker Score: 10351
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71724
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47950.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30397
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.98
    Marker Score: 1441
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.97
    Marker Score: 1202
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.96
    Marker Score: 578
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 490
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.95
    Marker Score: 1057
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2402
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 445
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.92
    Marker Score: 262
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.92
    Marker Score: 242
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.91
    Marker Score: 1129
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2713
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.9
    Marker Score: 230
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.9
    Marker Score: 449
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.89
    Marker Score: 1075
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.88
    Marker Score: 936
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.88
    Marker Score: 5353
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.88
    Marker Score: 33361
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 315
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.87
    Marker Score: 13036
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.86
    Marker Score: 322
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.86
    Marker Score: 1039
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.86
    Marker Score: 193
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.86
    Marker Score: 465
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.86
    Marker Score: 1032.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4875
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.85
    Marker Score: 754
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.85
    Marker Score: 2126
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.83
    Marker Score: 983
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.83
    Marker Score: 168
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.83
    Marker Score: 5374
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.82
    Marker Score: 938
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.82
    Marker Score: 800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.82
    Marker Score: 808.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.81
    Marker Score: 325
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.81
    Marker Score: 362
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 615
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.8
    Marker Score: 661
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.8
    Marker Score: 1404
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.79
    Marker Score: 377
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.79
    Marker Score: 273
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.78
    Marker Score: 421
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.77
    Marker Score: 994
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.77
    Marker Score: 446
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.77
    Marker Score: 15287

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Other Information

## Summary ABCA1 is a protein that is involved in the assembly and trafficking of proteins involved in cholesterol transport and efflux. It is expressed in a variety of cell types, including endothelial cells, hepatocytes, and fibroblasts. ## Key characteristics * ABCA1 is a transmembrane protein that is expressed in the plasma membrane of cells. * It is a member of the ATP-binding cassette subfamily A (ABC) of proteins. * It is a key regulator of cholesterol transport and efflux in cells. * It is involved in the assembly and trafficking of proteins involved in cholesterol transport and efflux. * It is also involved in the regulation of lipid metabolism. ## Pathways and functions * ABCA1 is involved in the assembly and trafficking of proteins involved in cholesterol transport and efflux. * It is responsible for the sorting and transport of proteins to the cell surface. * It is also involved in the regulation of cholesterol efflux from cells. * It is involved in the metabolism of lipids. * It is also involved in the regulation of inflammation. ## Clinical significance ABCA1 is a gene that is linked to a number of human diseases. Mutations in ABCA1 have been linked to a number of diseases, including familial hypercholesterolemia, atherosclerosis, and diabetes. These diseases are characterized by high levels of cholesterol in the blood. ABCA1 is a potential target for the treatment of these diseases. By blocking ABCA1, it is possible to lower cholesterol levels and reduce the risk of developing these diseases.

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 5 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 68 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 7 PRO 1 PROSITE 2 PROSITE-ProRule 1 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 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 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 EMBL 2 GO 5 Gene3D 1 Genevisible 1 GenomeRNAi 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 EMBL 2 GO 5 Gene3D 1 Genevisible 1 GenomeRNAi 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. For the full schema, download it here.