Details for: APOB

Gene ID: 338

Symbol: APOB

Ensembl ID: ENSG00000084674

Description: apolipoprotein B

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: hepatoblast (CL0005026)
    Fold Change: 13.34
    Marker Score: 43698
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 3.76
    Marker Score: 2345
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.38
    Marker Score: 18193
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.52
    Marker Score: 3882
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.24
    Marker Score: 14415
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 2.22
    Marker Score: 2383
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 2.19
    Marker Score: 9471
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.07
    Marker Score: 2084
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 1.78
    Marker Score: 553
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.68
    Marker Score: 8066
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.57
    Marker Score: 453
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 170121
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.33
    Marker Score: 1331.5
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 1.26
    Marker Score: 347
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.08
    Marker Score: 740
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.07
    Marker Score: 2035
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.07
    Marker Score: 16745
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1
    Marker Score: 2036
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71827.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48052
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.96
    Marker Score: 1553
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5340
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.92
    Marker Score: 1896
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.8
    Marker Score: 319
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.78
    Marker Score: 324
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.78
    Marker Score: 3263
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 694
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.72
    Marker Score: 2551
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.67
    Marker Score: 670
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.65
    Marker Score: 246.5
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.65
    Marker Score: 158
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.59
    Marker Score: 357
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.58
    Marker Score: 460
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.57
    Marker Score: 216
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.5
    Marker Score: 109
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.48
    Marker Score: 230
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 275
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.43
    Marker Score: 113
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.42
    Marker Score: 266
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.4
    Marker Score: 126
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.39
    Marker Score: 2564
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.38
    Marker Score: 263
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.37
    Marker Score: 355
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.36
    Marker Score: 8066
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.34
    Marker Score: 129
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.34
    Marker Score: 152
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.33
    Marker Score: 173
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.32
    Marker Score: 87.5
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.3
    Marker Score: 110
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.3
    Marker Score: 934
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.28
    Marker Score: 340.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.24
    Marker Score: 76
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.24
    Marker Score: 568
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.24
    Marker Score: 52
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.22
    Marker Score: 100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.21
    Marker Score: 53
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.21
    Marker Score: 118
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.2
    Marker Score: 140.5
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.19
    Marker Score: 146
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.19
    Marker Score: 68
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.18
    Marker Score: 46
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.16
    Marker Score: 85
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.16
    Marker Score: 71
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.16
    Marker Score: 115
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.15
    Marker Score: 367
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.14
    Marker Score: 66
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.14
    Marker Score: 48
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.14
    Marker Score: 58
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.13
    Marker Score: 49
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.13
    Marker Score: 114
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.13
    Marker Score: 48
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.13
    Marker Score: 58
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.13
    Marker Score: 36
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.12
    Marker Score: 39
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.12
    Marker Score: 70
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.12
    Marker Score: 105
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.12
    Marker Score: 104
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.11
    Marker Score: 46
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.1
    Marker Score: 32
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.09
    Marker Score: 292
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.09
    Marker Score: 234
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.09
    Marker Score: 87
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.09
    Marker Score: 24
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.09
    Marker Score: 20
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.09
    Marker Score: 24
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.09
    Marker Score: 142
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.09
    Marker Score: 97
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.09
    Marker Score: 21
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.08
    Marker Score: 19
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.08
    Marker Score: 21

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Other Information

**Key characteristics:** * APOB is a glycoprotein with a molecular weight of approximately 120,000 Da. * It is found in plasma and lipoproteins. * It is a key component of HDL, also known as "good" cholesterol. * It plays a role in the metabolism of other lipids, including VLDL and IDL. * It is significantly expressed in hepatocytes in the liver. **Pathways and functions:** * APOB binds to ligands on the surface of cells, including scavenger receptors and cell surface receptors. * It is involved in cell surface interactions at the vascular wall. * It is involved in cellular responses to stimuli, cellular responses to stress, and hemostasis. * It is involved in the regulation of insulin-like growth factor (igf) transport and uptake by insulin-like growth factor binding proteins (igfbps). * It plays a role in the visual phototransduction process. **Clinical significance:** * Mutations in the APOB gene have been linked to several diseases, including atherosclerosis, cardiovascular disease, and diabetes. * APOB levels are often used as a marker for liver damage and disease progression. * APOB inhibitors are being investigated as potential treatments for these diseases.

Genular Protein ID: 1095522773

Symbol: APOB_HUMAN

Name: Apolipoprotein B-100

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3763409

Title: Complete cDNA and derived protein sequence of human apolipoprotein B-100.

PubMed ID: 3763409

DOI: 10.1093/nar/14.18.7501

PubMed ID: 3652907

Title: DNA sequence of the human apolipoprotein B gene.

PubMed ID: 3652907

DOI: 10.1089/dna.1987.6.363

PubMed ID: 3759943

Title: The complete cDNA and amino acid sequence of human apolipoprotein B-100.

PubMed ID: 3759943

DOI: 10.1016/s0021-9258(18)69248-8

PubMed ID: 3464946

Title: Human liver apolipoprotein B-100 cDNA: complete nucleic acid and derived amino acid sequence.

PubMed ID: 3464946

DOI: 10.1073/pnas.83.21.8142

PubMed ID: 3030729

Title: The complete sequence and structural analysis of human apolipoprotein B-100: relationship between apoB-100 and apoB-48 forms.

PubMed ID: 3030729

DOI: 10.1002/j.1460-2075.1986.tb04675.x

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 3461454

Title: Analysis of cDNA clones encoding the entire B-26 region of human apolipoprotein B.

PubMed ID: 3461454

DOI: 10.1073/pnas.83.15.5678

PubMed ID: 3513177

Title: Isolation of a cDNA clone encoding the amino-terminal region of human apolipoprotein B.

PubMed ID: 3513177

DOI: 10.1073/pnas.83.5.1467

PubMed ID: 2115173

Title: Isolation and characterization of sulfhydryl and disulfide peptides of human apolipoprotein B-100.

PubMed ID: 2115173

DOI: 10.1073/pnas.87.14.5523

PubMed ID: 3001697

Title: Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.

PubMed ID: 3001697

DOI: 10.1073/pnas.82.24.8340

PubMed ID: 3860836

Title: A partial cDNA clone for human apolipoprotein B.

PubMed ID: 3860836

DOI: 10.1073/pnas.82.15.4983

PubMed ID: 6373369

Title: Human apolipoprotein B: partial amino acid sequence.

PubMed ID: 6373369

DOI: 10.1016/0014-5793(84)81378-2

PubMed ID: 2567736

Title: Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.

PubMed ID: 2567736

DOI: 10.1016/s0021-9258(18)60477-6

PubMed ID: 2883086

Title: Analysis of the human apolipoprotein B gene; complete structure of the B-74 region.

PubMed ID: 2883086

DOI: 10.1016/0378-1119(86)90383-5

PubMed ID: 3676265

Title: Structural comparison of human apolipoproteins B-48 and B-100.

PubMed ID: 3676265

DOI: 10.1021/bi00391a040

PubMed ID: 3841204

Title: Molecular cloning of human apolipoprotein B cDNA.

PubMed ID: 3841204

DOI: 10.1093/nar/13.24.8813

PubMed ID: 3621347

Title: A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine.

PubMed ID: 3621347

DOI: 10.1016/0092-8674(87)90510-1

PubMed ID: 2450346

Title: Human apolipoprotein B (apoB) mRNA: identification of two distinct apoB mRNAs, an mRNA with the apoB-100 sequence and an apoB mRNA containing a premature in-frame translational stop codon, in both liver and intestine.

PubMed ID: 2450346

DOI: 10.1073/pnas.85.6.1772

PubMed ID: 3426612

Title: Carboxyl terminal analysis of human B-48 protein confirms the novel mechanism proposed for chain termination.

PubMed ID: 3426612

DOI: 10.1016/0006-291x(87)90537-7

PubMed ID: 2445342

Title: Identification of a novel in-frame translational stop codon in human intestine apoB mRNA.

PubMed ID: 2445342

DOI: 10.1016/0006-291x(87)91107-7

PubMed ID: 3903660

Title: Human apolipoprotein B: identification of cDNA clones and characterization of mRNA.

PubMed ID: 3903660

DOI: 10.1093/nar/13.19.6937

PubMed ID: 2994225

Title: Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization.

PubMed ID: 2994225

DOI: 10.1126/science.2994225

PubMed ID: 2932736

Title: Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.

PubMed ID: 2932736

DOI: 10.1073/pnas.82.21.7265

PubMed ID: 3841481

Title: Molecular cloning of human LDL apolipoprotein B cDNA. Evidence for more than one gene per haploid genome.

PubMed ID: 3841481

DOI: 10.1016/0021-9150(85)90073-5

PubMed ID: 3024665

Title: Isolation, expression and characterization of a human apolipoprotein B 100-specific cDNA clone.

PubMed ID: 3024665

DOI: 10.1515/bchm3.1986.367.2.1077

PubMed ID: 3659919

Title: Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon.

PubMed ID: 3659919

DOI: 10.1126/science.3659919

PubMed ID: 3773997

Title: Complete protein sequence and identification of structural domains of human apolipoprotein B.

PubMed ID: 3773997

DOI: 10.1038/323734a0

PubMed ID: 3095664

Title: Sequence, structure, receptor-binding domains and internal repeats of human apolipoprotein B-100.

PubMed ID: 3095664

DOI: 10.1038/323738a0

PubMed ID: 3087360

Title: Apolipoprotein B is a calcium binding protein.

PubMed ID: 3087360

DOI: 10.1016/0006-291x(86)91237-4

PubMed ID: 10679026

Title: Palmitoylation of apolipoprotein B is required for proper intracellular sorting and transport of cholesteroyl esters and triglycerides.

PubMed ID: 10679026

DOI: 10.1091/mbc.11.2.721

PubMed ID: 14760718

Title: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.

PubMed ID: 14760718

DOI: 10.1002/pmic.200300556

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 16548883

Title: Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection.

PubMed ID: 16548883

DOI: 10.1111/j.1462-5822.2005.00644.x

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: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20686565

Title: Biological, clinical and population relevance of 95 loci for blood lipids.

PubMed ID: 20686565

DOI: 10.1038/nature09270

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21981844

Title: A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.

PubMed ID: 21981844

DOI: 10.1016/j.jacl.2011.06.014

PubMed ID: 22580899

Title: Proprotein convertase subtilisin/kexin type 9 interacts with apolipoprotein B and prevents its intracellular degradation, irrespective of the low-density lipoprotein receptor.

PubMed ID: 22580899

DOI: 10.1161/atvbaha.112.250043

PubMed ID: 24916387

Title: C to U RNA editing mediated by APOBEC1 requires RNA-binding protein RBM47.

PubMed ID: 24916387

DOI: 10.15252/embr.201438450

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: 26091039

Title: A single kinase generates the majority of the secreted phosphoproteome.

PubMed ID: 26091039

DOI: 10.1016/j.cell.2015.05.028

PubMed ID: 26224785

Title: A novel abetalipoproteinemia missense mutation highlights the importance of N-Terminal beta-barrel in microsomal triglyceride transfer protein function.

PubMed ID: 26224785

DOI: 10.1161/circgenetics.115.001106

PubMed ID: 28183703

Title: AUP1 (Ancient Ubiquitous Protein 1) Is a Key Determinant of Hepatic Very-Low-Density Lipoprotein Assembly and Secretion.

PubMed ID: 28183703

DOI: 10.1161/atvbaha.117.309000

PubMed ID: 1979313

Title: Detection by denaturing gradient gel electrophoresis of a new polymorphism in the apolipoprotein B gene.

PubMed ID: 1979313

DOI: 10.1007/bf00205183

PubMed ID: 2563166

Title: Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

PubMed ID: 2563166

DOI: 10.1073/pnas.86.2.587

PubMed ID: 2216805

Title: Sequence polymorphism in the human apoB gene at position 8344.

PubMed ID: 2216805

DOI: 10.1093/nar/18.19.5922-a

PubMed ID: 7883971

Title: Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.

PubMed ID: 7883971

DOI: 10.1172/jci117772

PubMed ID: 8889592

Title: Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP.

PubMed ID: 8889592

DOI: 10.1002/(sici)1098-1004(1996)8:3<282::aid-humu16>3.0.co;2-z

PubMed ID: 9259199

Title: Familial ligand-defective apolipoprotein B-100: simultaneous detection of the Arg3500-->Gln and Arg3531-->Cys mutations in a French population.

PubMed ID: 9259199

DOI: 10.1002/(sici)1098-1004(1997)10:2<160::aid-humu8>3.0.co;2-o

PubMed ID: 9490296

Title: Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia.

PubMed ID: 9490296

DOI: 10.1007/s004390050651

PubMed ID: 12551903

Title: A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.

PubMed ID: 12551903

DOI: 10.1074/jbc.m300235200

PubMed ID: 14732481

Title: Hypobetalipoproteinemia with an apparently recessive inheritance due to a 'de novo' mutation of apolipoprotein B.

PubMed ID: 14732481

DOI: 10.1016/j.bbadis.2003.11.002

PubMed ID: 16959974

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

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 21382890

Title: Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

PubMed ID: 21382890

DOI: 10.1161/circulationaha.110.979450

PubMed ID: 22028381

Title: Quantitative detection of single amino acid polymorphisms by targeted proteomics.

PubMed ID: 22028381

DOI: 10.1093/jmcb/mjr024

PubMed ID: 22095935

Title: Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

PubMed ID: 22095935

DOI: 10.1002/humu.21660

PubMed ID: 27206948

Title: Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.

PubMed ID: 27206948

DOI: 10.1016/j.jacl.2016.01.006

Sequence Information:

  • Length: 4563
  • Mass: 515545
  • Checksum: D1073B2D5172A370
  • Sequence:
  • MDPPRPALLA LLALPALLLL LLAGARAEEE MLENVSLVCP KDATRFKHLR KYTYNYEAES 
    SSGVPGTADS RSATRINCKV ELEVPQLCSF ILKTSQCTLK EVYGFNPEGK ALLKKTKNSE 
    EFAAAMSRYE LKLAIPEGKQ VFLYPEKDEP TYILNIKRGI ISALLVPPET EEAKQVLFLD 
    TVYGNCSTHF TVKTRKGNVA TEISTERDLG QCDRFKPIRT GISPLALIKG MTRPLSTLIS 
    SSQSCQYTLD AKRKHVAEAI CKEQHLFLPF SYKNKYGMVA QVTQTLKLED TPKINSRFFG 
    EGTKKMGLAF ESTKSTSPPK QAEAVLKTLQ ELKKLTISEQ NIQRANLFNK LVTELRGLSD 
    EAVTSLLPQL IEVSSPITLQ ALVQCGQPQC STHILQWLKR VHANPLLIDV VTYLVALIPE 
    PSAQQLREIF NMARDQRSRA TLYALSHAVN NYHKTNPTGT QELLDIANYL MEQIQDDCTG 
    DEDYTYLILR VIGNMGQTME QLTPELKSSI LKCVQSTKPS LMIQKAAIQA LRKMEPKDKD 
    QEVLLQTFLD DASPGDKRLA AYLMLMRSPS QADINKIVQI LPWEQNEQVK NFVASHIANI 
    LNSEELDIQD LKKLVKEALK ESQLPTVMDF RKFSRNYQLY KSVSLPSLDP ASAKIEGNLI 
    FDPNNYLPKE SMLKTTLTAF GFASADLIEI GLEGKGFEPT LEALFGKQGF FPDSVNKALY 
    WVNGQVPDGV SKVLVDHFGY TKDDKHEQDM VNGIMLSVEK LIKDLKSKEV PEARAYLRIL 
    GEELGFASLH DLQLLGKLLL MGARTLQGIP QMIGEVIRKG SKNDFFLHYI FMENAFELPT 
    GAGLQLQISS SGVIAPGAKA GVKLEVANMQ AELVAKPSVS VEFVTNMGII IPDFARSGVQ 
    MNTNFFHESG LEAHVALKAG KLKFIIPSPK RPVKLLSGGN TLHLVSTTKT EVIPPLIENR 
    QSWSVCKQVF PGLNYCTSGA YSNASSTDSA SYYPLTGDTR LELELRPTGE IEQYSVSATY 
    ELQREDRALV DTLKFVTQAE GAKQTEATMT FKYNRQSMTL SSEVQIPDFD VDLGTILRVN 
    DESTEGKTSY RLTLDIQNKK ITEVALMGHL SCDTKEERKI KGVISIPRLQ AEARSEILAH 
    WSPAKLLLQM DSSATAYGST VSKRVAWHYD EEKIEFEWNT GTNVDTKKMT SNFPVDLSDY 
    PKSLHMYANR LLDHRVPQTD MTFRHVGSKL IVAMSSWLQK ASGSLPYTQT LQDHLNSLKE 
    FNLQNMGLPD FHIPENLFLK SDGRVKYTLN KNSLKIEIPL PFGGKSSRDL KMLETVRTPA 
    LHFKSVGFHL PSREFQVPTF TIPKLYQLQV PLLGVLDLST NVYSNLYNWS ASYSGGNTST 
    DHFSLRARYH MKADSVVDLL SYNVQGSGET TYDHKNTFTL SCDGSLRHKF LDSNIKFSHV 
    EKLGNNPVSK GLLIFDASSS WGPQMSASVH LDSKKKQHLF VKEVKIDGQF RVSSFYAKGT 
    YGLSCQRDPN TGRLNGESNL RFNSSYLQGT NQITGRYEDG TLSLTSTSDL QSGIIKNTAS 
    LKYENYELTL KSDTNGKYKN FATSNKMDMT FSKQNALLRS EYQADYESLR FFSLLSGSLN 
    SHGLELNADI LGTDKINSGA HKATLRIGQD GISTSATTNL KCSLLVLENE LNAELGLSGA 
    SMKLTTNGRF REHNAKFSLD GKAALTELSL GSAYQAMILG VDSKNIFNFK VSQEGLKLSN 
    DMMGSYAEMK FDHTNSLNIA GLSLDFSSKL DNIYSSDKFY KQTVNLQLQP YSLVTTLNSD 
    LKYNALDLTN NGKLRLEPLK LHVAGNLKGA YQNNEIKHIY AISSAALSAS YKADTVAKVQ 
    GVEFSHRLNT DIAGLASAID MSTNYNSDSL HFSNVFRSVM APFTMTIDAH TNGNGKLALW 
    GEHTGQLYSK FLLKAEPLAF TFSHDYKGST SHHLVSRKSI SAALEHKVSA LLTPAEQTGT 
    WKLKTQFNNN EYSQDLDAYN TKDKIGVELT GRTLADLTLL DSPIKVPLLL SEPINIIDAL 
    EMRDAVEKPQ EFTIVAFVKY DKNQDVHSIN LPFFETLQEY FERNRQTIIV VLENVQRNLK 
    HINIDQFVRK YRAALGKLPQ QANDYLNSFN WERQVSHAKE KLTALTKKYR ITENDIQIAL 
    DDAKINFNEK LSQLQTYMIQ FDQYIKDSYD LHDLKIAIAN IIDEIIEKLK SLDEHYHIRV 
    NLVKTIHDLH LFIENIDFNK SGSSTASWIQ NVDTKYQIRI QIQEKLQQLK RHIQNIDIQH 
    LAGKLKQHIE AIDVRVLLDQ LGTTISFERI NDILEHVKHF VINLIGDFEV AEKINAFRAK 
    VHELIERYEV DQQIQVLMDK LVELAHQYKL KETIQKLSNV LQQVKIKDYF EKLVGFIDDA 
    VKKLNELSFK TFIEDVNKFL DMLIKKLKSF DYHQFVDETN DKIREVTQRL NGEIQALELP 
    QKAEALKLFL EETKATVAVY LESLQDTKIT LIINWLQEAL SSASLAHMKA KFRETLEDTR 
    DRMYQMDIQQ ELQRYLSLVG QVYSTLVTYI SDWWTLAAKN LTDFAEQYSI QDWAKRMKAL 
    VEQGFTVPEI KTILGTMPAF EVSLQALQKA TFQTPDFIVP LTDLRIPSVQ INFKDLKNIK 
    IPSRFSTPEF TILNTFHIPS FTIDFVEMKV KIIRTIDQML NSELQWPVPD IYLRDLKVED 
    IPLARITLPD FRLPEIAIPE FIIPTLNLND FQVPDLHIPE FQLPHISHTI EVPTFGKLYS 
    ILKIQSPLFT LDANADIGNG TTSANEAGIA ASITAKGESK LEVLNFDFQA NAQLSNPKIN 
    PLALKESVKF SSKYLRTEHG SEMLFFGNAI EGKSNTVASL HTEKNTLELS NGVIVKINNQ 
    LTLDSNTKYF HKLNIPKLDF SSQADLRNEI KTLLKAGHIA WTSSGKGSWK WACPRFSDEG 
    THESQISFTI EGPLTSFGLS NKINSKHLRV NQNLVYESGS LNFSKLEIQS QVDSQHVGHS 
    VLTAKGMALF GEGKAEFTGR HDAHLNGKVI GTLKNSLFFS AQPFEITAST NNEGNLKVRF 
    PLRLTGKIDF LNNYALFLSP SAQQASWQVS ARFNQYKYNQ NFSAGNNENI MEAHVGINGE 
    ANLDFLNIPL TIPEMRLPYT IITTPPLKDF SLWEKTGLKE FLKTTKQSFD LSVKAQYKKN 
    KHRHSITNPL AVLCEFISQS IKSFDRHFEK NRNNALDFVT KSYNETKIKF DKYKAEKSHD 
    ELPRTFQIPG YTVPVVNVEV SPFTIEMSAF GYVFPKAVSM PSFSILGSDV RVPSYTLILP 
    SLELPVLHVP RNLKLSLPDF KELCTISHIF IPAMGNITYD FSFKSSVITL NTNAELFNQS 
    DIVAHLLSSS SSVIDALQYK LEGTTRLTRK RGLKLATALS LSNKFVEGSH NSTVSLTTKN 
    MEVSVATTTK AQIPILRMNF KQELNGNTKS KPTVSSSMEF KYDFNSSMLY STAKGAVDHK 
    LSLESLTSYF SIESSTKGDV KGSVLSREYS GTIASEANTY LNSKSTRSSV KLQGTSKIDD 
    IWNLEVKENF AGEATLQRIY SLWEHSTKNH LQLEGLFFTN GEHTSKATLE LSPWQMSALV 
    QVHASQPSSF HDFPDLGQEV ALNANTKNQK IRWKNEVRIH SGSFQSQVEL SNDQEKAHLD 
    IAGSLEGHLR FLKNIILPVY DKSLWDFLKL DVTTSIGRRQ HLRVSTAFVY TKNPNGYSFS 
    IPVKVLADKF IIPGLKLNDL NSVLVMPTFH VPFTDLQVPS CKLDFREIQI YKKLRTSSFA 
    LNLPTLPEVK FPEVDVLTKY SQPEDSLIPF FEITVPESQL TVSQFTLPKS VSDGIAALDL 
    NAVANKIADF ELPTIIVPEQ TIEIPSIKFS VPAGIVIPSF QALTARFEVD SPVYNATWSA 
    SLKNKADYVE TVLDSTCSST VQFLEYELNV LGTHKIEDGT LASKTKGTFA HRDFSAEYEE 
    DGKYEGLQEW EGKAHLNIKS PAFTDLHLRY QKDKKGISTS AASPAVGTVG MDMDEDDDFS 
    KWNFYYSPQS SPDKKLTIFK TELRVRESDE ETQIKVNWEE EAASGLLTSL KDNVPKATGV 
    LYDYVNKYHW EHTGLTLREV SSKLRRNLQN NAEWVYQGAI RQIDDIDVRF QKAASGTTGT 
    YQEWKDKAQN LYQELLTQEG QASFQGLKDN VFDGLVRVTQ EFHMKVKHLI DSLIDFLNFP 
    RFQFPGKPGI YTREELCTMF IREVGTVLSQ VYSKVHNGSE ILFSYFQDLV ITLPFELRKH 
    KLIDVISMYR ELLKDLSKEA QEVFKAIQSL KTTEVLRNLQ DLLQFIFQLI EDNIKQLKEM 
    KFTYLINYIQ DEINTIFSDY IPYVFKLLKE NLCLNLHKFN EFIQNELQEA SQELQQIHQY 
    IMALREEYFD PSIVGWTVKY YELEEKIVSL IKNLLVALKD FHSEYIVSAS NFTSQLSSQV 
    EQFLHRNIQE YLSILTDPDG KGKEKIAELS ATAQEIIKSQ AIATKKIISD YHQQFRYKLQ 
    DFSDQLSDYY EKFIAESKRL IDLSIQNYHT FLIYITELLK KLQSTTVMNP YMKLAPGELT 
    IIL

Genular Protein ID: 90469586

Symbol: Q59HB3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 1615
  • Mass: 183579
  • Checksum: D3F95D589D0927FD
  • Sequence:
  • TIEGPLTSFG LSNKINSKHL RVNQNLVYES GSLNFSKLEI QSQVDSQHVG HSVLTAKGMA 
    LFGEGKAEFT GRHDAHLNGK VIGTLKNSLF FSAQPFEITA STNNEGNLKV RFPLRLTGKI 
    DFLNNYALFL SPSAQQASWQ VSARFNQYKY NQNFSAGNNE NIMEAHVGIN GEANLDFLNI 
    PLTIPEMRLP YTIITTPPLK DFSLWEKTGL KEFLKTTKQS FDLSVKAQYK KNKHRHSITN 
    PLAVLCEFIS QSIKSFDRHF EKNRNNALDF VTKSYNETKI KFDKYKAEKS HDELPRTFQI 
    PGYTVPVVNV EVSPFTIEMS AFGYVFPKAV SMPSFSILGS DVRVPSYTLI LPSLELPVLH 
    VPRNLKLSLP DFKELCTISH IFIPAMGNIT YDFSFKSSVI TLNTNAELFN QSDIVAHLLS 
    SSSSVIDALQ YKLEGTTRLT RKRGLKLATA LSLSNKFVEG SHNSTVSLTT KNMEVSVATT 
    TKAQIPILRM NFKQELNGNT KSKPTVSSSM EFKYDFNSSM LYSTAKGAVD HKLSLESLTS 
    YFSIESSTKG DVKGSVLSRE YSGTIASEAN TYLNSKSTRS SVKLQGTSKI DDIWNLEVKE 
    NFAGEATLQR IYSLWEHSTK NHLQLEGLFF TNGEHTSKAT LELSPWQMSA LVQVHASQPS 
    SFHDFPDLGQ EVALNANTKN QKIRWKNEVR IHSGSFQSQV ELSNDQEKAH LDIAGSLEGH 
    LRFLKNIILP VYDKSLWDFL KLDVTTSIGR RQHLRVSTAF VYTKNPNGYS FSIPVKVLAD 
    KFIIPGLKLN DLNSVLVMPT FHVPFTDLQV PSCKLDFREI QIYKKLRTSS FALNLPTLPE 
    VKFPEVDVLT KYSQPEDSLI PFFEITVPES QLTVSQFTLP KSVSDGIAAL DLNAVANKIA 
    DFELPTIIVP EQTIEIPSIK FSVPAGIVIP SFQALTARFE VDSPVYNATW SASLKNKADY 
    VETVLDSTCS STVQFLEYEL NVLGTHKIED GTLASKTKGT FAHRDFSAEY EEDGKYEGLQ 
    EWEGKAHLNI KSPAFTDLHL RYQKDKKGIS TSAASPAVGT VGMDMDEDDD FSKWNFYYSP 
    QSSPDKKLTI FKTELRVRES DEETQIKVNW EEEAASGLLT SLKDNVPKAT GVLYDYVNKY 
    HWEHTGLTLR EVSSKLRRNL QNNAEWVYQG AIRQIDDIDV RFQKAASGTT GTYQEWKDKA 
    QNLYQELLTQ EGQASFQGLK DNVFDGLVRV TQEFHMKVKH LIDSLIDFLN FPRFQFPGKP 
    GIYTREELCT MFIREVGTVL SQVYSKVHNG SEILFSYFQD LVITLPFELR KHKLIDVISM 
    YRELLKDLSK EAQEVFKAIQ SLKTTEVLRN LQDLLQFIFQ LIEDNIKQLK EMKFTYLINY 
    IQDEINTIFS DYIPYVFKLL KENLCLNLHK FNEFIQNELQ EASQELQQIH QYIMALREEY 
    FDPSIVGWTV KYYELEEKIV SLIKNLLVAL KDFHSEYIVS ASNFTSQLSS QVEQFLHRNI 
    QEYLSILTDP DGKGKEKIAE LSATAQEIIK SQTIATKKII SDYHQQFRYK LQDFSDQLSD 
    YYEKFIAESK RLIDLSIQNY HTFLIYITEL LKKLQSTTVM NPYMKLAPGE LTIIL

Genular Protein ID: 3578240559

Symbol: Q7Z7Q0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

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: 825
  • Mass: 92334
  • Checksum: 9004A128F9E6338E
  • Sequence:
  • MDPPRPALLA LPALLLLLLA GARAEEEMLE NVSLVCPKDA TRFKHLRKYT YNYEAESSSG 
    VPGTADSRSA TRINCKVELE VPQLCSFILK TSQCILKEVY GFNPEGKALL KKTKNSEEFA 
    AAMSRYELKL AIPEGKQVFL YPEKDEPTYI LNIKRGIISA LLVPPETEEA KQVLFLDTVY 
    GNCSTHFTVK TRKGNVATEI STERDLGQCD RFKPIRTGIS PLALIKGMTR PLSTLISSSQ 
    SCQYTLDAKR KHVAEAICKE QHLFLPFSYK NKYGMVAQVT QTLKLEDTPK INSRFFGEGT 
    KKMGLAFEST KSTSPPKQAE AVLKTLQELK KLTISEQNIQ RANLFNKLVT ELRGLSDEAV 
    TSLLPQLIEV SSPITLQALV QCGQPQCSTH ILQWLKRVHA NPLLIDVVTY LVALIPEPSA 
    QQLREIFNMA RDQRSRATLY ALSHAVNNYH KTNPTGTQEL LDIANYLMEQ IQDDCTGDED 
    YTYLILRVIG NMGQTMEQLT PELKSSILKC VQSTKPSLMI QKAAIQALRK MEPKDKDQEV 
    LLQTFLDDAS PGDKRLAAYL MLMRSPSQAD INKIVQILPW EQNEQVKNFV ASHIANILNS 
    EELDIQDLKK LVKEALKESQ LPTVMDFRKF SRNYQLYKSV SLPSLDPASA KIEGNLIFDP 
    NNYLPKESML KTTLTAFGFA SADLIEIGLE GKGFEPTLEA LFGKQGFFPD SVNKALYWVN 
    GQVPDGVSKV LVDHFGYTKD DKHEQDMVNG IMLSVEKLIK DLKSKEVPEA RAYLRILGEE 
    LGFASLHDLQ LLGKLLLMDR PDSLTIPAAQ ARKDACTFFR DGGLP

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.