Details for: LRP5

Gene ID: 4041

Symbol: LRP5

Ensembl ID: ENSG00000162337

Description: LDL receptor related protein 5

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: retinal bipolar neuron (CL0000748)
    Fold Change: 2.77
    Marker Score: 23429
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.69
    Marker Score: 985
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.65
    Marker Score: 516
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.64
    Marker Score: 3858
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.49
    Marker Score: 3276
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168735
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.46
    Marker Score: 4793
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.35
    Marker Score: 763
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.34
    Marker Score: 8605
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.33
    Marker Score: 3040
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.32
    Marker Score: 1086
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.3
    Marker Score: 20385
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.3
    Marker Score: 5617
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.3
    Marker Score: 6973
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.29
    Marker Score: 373
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.25
    Marker Score: 304
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.23
    Marker Score: 2496.5
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.23
    Marker Score: 5115.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.21
    Marker Score: 1785
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.2
    Marker Score: 1041
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.17
    Marker Score: 4175
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.14
    Marker Score: 4487
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.1
    Marker Score: 1334
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.07
    Marker Score: 391
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.07
    Marker Score: 256
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.05
    Marker Score: 23544
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.04
    Marker Score: 4338
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.03
    Marker Score: 774.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71772
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47996
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.98
    Marker Score: 1080
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 496
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 451
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.95
    Marker Score: 1307
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.94
    Marker Score: 1519
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.93
    Marker Score: 5582
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2728
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.9
    Marker Score: 933
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.9
    Marker Score: 419
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.89
    Marker Score: 258
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 320
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.88
    Marker Score: 487
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.88
    Marker Score: 178
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.88
    Marker Score: 30313
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4963.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.86
    Marker Score: 519
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.86
    Marker Score: 597
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.86
    Marker Score: 272
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.86
    Marker Score: 1495
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.85
    Marker Score: 912
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.84
    Marker Score: 956
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.84
    Marker Score: 2995.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.84
    Marker Score: 468
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.83
    Marker Score: 797.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.82
    Marker Score: 393
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.81
    Marker Score: 1848
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.81
    Marker Score: 261
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.8
    Marker Score: 12921
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.79
    Marker Score: 542
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 606
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.79
    Marker Score: 851
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.79
    Marker Score: 699
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.78
    Marker Score: 2898
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.77
    Marker Score: 1483
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.76
    Marker Score: 16129
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.75
    Marker Score: 567
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.75
    Marker Score: 370
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.75
    Marker Score: 598
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.75
    Marker Score: 279
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.74
    Marker Score: 3550
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 296
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.74
    Marker Score: 157
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.73
    Marker Score: 232
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.72
    Marker Score: 9741
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3018.5
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.72
    Marker Score: 650
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.72
    Marker Score: 3526
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.72
    Marker Score: 4574
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.71
    Marker Score: 861
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.71
    Marker Score: 917
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.71
    Marker Score: 263
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.71
    Marker Score: 183
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.7
    Marker Score: 364
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.7
    Marker Score: 394
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.7
    Marker Score: 434
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.69
    Marker Score: 836
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.69
    Marker Score: 342
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.69
    Marker Score: 3639
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.69
    Marker Score: 443
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.69
    Marker Score: 456
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.69
    Marker Score: 175
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.68
    Marker Score: 2137
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.67
    Marker Score: 511
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.67
    Marker Score: 196
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.67
    Marker Score: 252

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - LRP5 is a transmembrane protein that is expressed in high levels in tissues that require Wnt signaling for development. - It is a type of receptor that is activated by Wnt proteins, which are secreted proteins that play a crucial role in cell signaling. - LRP5 is a key regulator of Wnt signaling by interacting with Wnt proteins and facilitating their interaction with downstream signaling components. **Pathways and functions:** - LRP5 is involved in the coreceptor activity of Wnt proteins, which is necessary for their full signaling function. - It helps to regulate the disassembly of the destruction complex, which is a multi-protein complex that is responsible for regulating Wnt signaling. - LRP5 also recruits axin to the membrane, which is a key downstream signaling component of Wnt signaling. - It also regulates the negative regulation of tcf-dependent signaling by wnt ligands antagonists, which helps to maintain the stability of the Wnt signaling pathway. **Clinical significance:** - Mutations in the LRP5 gene have been linked to a number of human diseases, including retinitis pigmentosa, corneal dystrophy, and kidney disease. - These diseases are characterized by defects in the development or function of the retinal, corneal, and kidney systems. - Understanding the role of LRP5 in Wnt signaling has potential implications for the development of new therapies for these diseases. **Other important points:** - LRP5 is a highly conserved protein that is found in vertebrates. - It is a member of the LDL receptor family of cell surface receptors. - It is a key regulator of cell migration and differentiation.

Genular Protein ID: 1400285235

Symbol: LRP5_HUMAN

Name: N/A

UniProtKB Accession Codes:

O75197 Q96TD6 Q9UES7 Q9UP66

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 8 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 52 Gene3D 3 GeneCards 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 7 KEGG 1 MANE-Select 1 MIM 19 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 3 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 6 RefSeq 2 SAM 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9790987

Title: Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity.

PubMed ID: 9790987

DOI: 10.1006/bbrc.1998.9545

PubMed ID: 9714764

Title: Cloning of a novel member of the low-density lipoprotein receptor family.

PubMed ID: 9714764

DOI: 10.1016/s0378-1119(98)00311-4

PubMed ID: 11401438

Title: The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13.

PubMed ID: 11401438

DOI: 10.1006/geno.2000.6492

PubMed ID: 12509515

Title: Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion.

PubMed ID: 12509515

DOI: 10.1073/pnas.0133792100

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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

PubMed ID: 17488095

Title: Requirement for natively unstructured regions of mesoderm development candidate 2 in promoting low-density lipoprotein receptor-related protein 6 maturation.

PubMed ID: 17488095

DOI: 10.1021/bi700049g

PubMed ID: 11448771

Title: Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6.

PubMed ID: 11448771

DOI: 10.1016/s0960-9822(01)00290-1

PubMed ID: 15778503

Title: Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling.

PubMed ID: 15778503

DOI: 10.1074/jbc.m413274200

PubMed ID: 15908424

Title: SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor.

PubMed ID: 15908424

DOI: 10.1074/jbc.m504308200

PubMed ID: 16513652

Title: Negative regulation of LRP6 function by casein kinase I epsilon phosphorylation.

PubMed ID: 16513652

DOI: 10.1074/jbc.m510580200

PubMed ID: 19746449

Title: A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).

PubMed ID: 19746449

DOI: 10.1002/jcb.22335

PubMed ID: 18762581

Title: Caprin-2 enhances canonical Wnt signaling through regulating LRP5/6 phosphorylation.

PubMed ID: 18762581

DOI: 10.1083/jcb.200803147

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 11336703

Title: Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway.

PubMed ID: 11336703

DOI: 10.1016/s1097-2765(01)00224-6

PubMed ID: 14731402

Title: A mechanism for Wnt coreceptor activation.

PubMed ID: 14731402

DOI: 10.1016/s1097-2765(03)00484-2

PubMed ID: 15143163

Title: The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.

PubMed ID: 15143163

DOI: 10.1128/mcb.24.11.4677-4684.2004

PubMed ID: 20393562

Title: APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.

PubMed ID: 20393562

DOI: 10.1038/nature08875

PubMed ID: 11741193

Title: A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.

PubMed ID: 11741193

DOI: 10.1086/338450

PubMed ID: 12579474

Title: Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

PubMed ID: 12579474

DOI: 10.1086/368277

PubMed ID: 15024691

Title: Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

PubMed ID: 15024691

DOI: 10.1086/383202

PubMed ID: 15077203

Title: Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.

PubMed ID: 15077203

DOI: 10.1086/420771

PubMed ID: 15346351

Title: Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PubMed ID: 15346351

DOI: 10.1086/425080

PubMed ID: 16252235

Title: Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

PubMed ID: 16252235

DOI: 10.1086/497706

PubMed ID: 16679074

Title: A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

PubMed ID: 16679074

DOI: 10.1016/j.bone.2006.02.069

PubMed ID: 18602879

Title: Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.

PubMed ID: 18602879

DOI: 10.1016/j.bone.2008.04.020

PubMed ID: 16929062

Title: Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

PubMed ID: 16929062

DOI: 10.1136/bjo.2006.092114

PubMed ID: 11719191

Title: LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PubMed ID: 11719191

DOI: 10.1016/s0092-8674(01)00571-2

PubMed ID: 25920554

Title: LRP5 variants may contribute to ADPKD.

PubMed ID: 25920554

DOI: 10.1038/ejhg.2015.86

PubMed ID: 27228167

Title: Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

PubMed ID: 27228167

DOI: 10.1089/gtmb.2015.0322

PubMed ID: 15981244

Title: Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PubMed ID: 15981244

DOI: 10.1002/humu.20191

PubMed ID: 19177549

Title: A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

PubMed ID: 19177549

DOI: 10.1002/humu.20916

PubMed ID: 20340138

Title: Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

PubMed ID: 20340138

DOI: 10.1002/humu.21250

PubMed ID: 19324841

Title: Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

PubMed ID: 19324841

DOI: 10.1167/iovs.08-3320

PubMed ID: 15824851

Title: Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PubMed ID: 15824851

DOI: 10.1359/jbmr.050101

PubMed ID: 15824861

Title: Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

PubMed ID: 15824861

DOI: 10.1359/jbmr.041223

PubMed ID: 16234968

Title: Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

PubMed ID: 16234968

DOI: 10.1359/jbmr.050705

PubMed ID: 17295608

Title: Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.

PubMed ID: 17295608

DOI: 10.1359/jbmr.070211

PubMed ID: 14727154

Title: LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

PubMed ID: 14727154

DOI: 10.1007/s10038-003-0111-6

PubMed ID: 24715757

Title: Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

PubMed ID: 24715757

PubMed ID: 12015390

Title: High bone density due to a mutation in LDL-receptor-related protein 5.

PubMed ID: 12015390

DOI: 10.1056/nejmoa013444

PubMed ID: 17437160

Title: A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.

PubMed ID: 17437160

DOI: 10.1007/s00198-007-0360-x

PubMed ID: 24706814

Title: Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

PubMed ID: 24706814

DOI: 10.1073/pnas.1309438111

PubMed ID: 28192794

Title: The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

PubMed ID: 28192794

DOI: 10.1167/iovs.16-20281

PubMed ID: 28375157

Title: Isolated polycystic liver disease genes define effectors of polycystin-1 function.

PubMed ID: 28375157

DOI: 10.1172/jci90129

Sequence Information:

  • Length: 1615
  • Mass: 179145
  • Checksum: 8BA25D07F51E02CA
  • Sequence:
    • MEAAPPGPPW PLLLLLLLLL ALCGCPAPAA ASPLLLFANR RDVRLVDAGG VKLESTIVVS 
GLEDAAAVDF QFSKGAVYWT DVSEEAIKQT YLNQTGAAVQ NVVISGLVSP DGLACDWVGK 
KLYWTDSETN RIEVANLNGT SRKVLFWQDL DQPRAIALDP AHGYMYWTDW GETPRIERAG 
MDGSTRKIIV DSDIYWPNGL TIDLEEQKLY WADAKLSFIH RANLDGSFRQ KVVEGSLTHP 
FALTLSGDTL YWTDWQTRSI HACNKRTGGK RKEILSALYS PMDIQVLSQE RQPFFHTRCE 
EDNGGCSHLC LLSPSEPFYT CACPTGVQLQ DNGRTCKAGA EEVLLLARRT DLRRISLDTP 
DFTDIVLQVD DIRHAIAIDY DPLEGYVYWT DDEVRAIRRA YLDGSGAQTL VNTEINDPDG 
IAVDWVARNL YWTDTGTDRI EVTRLNGTSR KILVSEDLDE PRAIALHPVM GLMYWTDWGE 
NPKIECANLD GQERRVLVNA SLGWPNGLAL DLQEGKLYWG DAKTDKIEVI NVDGTKRRTL 
LEDKLPHIFG FTLLGDFIYW TDWQRRSIER VHKVKASRDV IIDQLPDLMG LKAVNVAKVV 
GTNPCADRNG GCSHLCFFTP HATRCGCPIG LELLSDMKTC IVPEAFLVFT SRAAIHRISL 
ETNNNDVAIP LTGVKEASAL DFDVSNNHIY WTDVSLKTIS RAFMNGSSVE HVVEFGLDYP 
EGMAVDWMGK NLYWADTGTN RIEVARLDGQ FRQVLVWRDL DNPRSLALDP TKGYIYWTEW 
GGKPRIVRAF MDGTNCMTLV DKVGRANDLT IDYADQRLYW TDLDTNMIES SNMLGQERVV 
IADDLPHPFG LTQYSDYIYW TDWNLHSIER ADKTSGRNRT LIQGHLDFVM DILVFHSSRQ 
DGLNDCMHNN GQCGQLCLAI PGGHRCGCAS HYTLDPSSRN CSPPTTFLLF SQKSAISRMI 
PDDQHSPDLI LPLHGLRNVK AIDYDPLDKF IYWVDGRQNI KRAKDDGTQP FVLTSLSQGQ 
NPDRQPHDLS IDIYSRTLFW TCEATNTINV HRLSGEAMGV VLRGDRDKPR AIVVNAERGY 
LYFTNMQDRA AKIERAALDG TEREVLFTTG LIRPVALVVD NTLGKLFWVD ADLKRIESCD 
LSGANRLTLE DANIVQPLGL TILGKHLYWI DRQQQMIERV EKTTGDKRTR IQGRVAHLTG 
IHAVEEVSLE EFSAHPCARD NGGCSHICIA KGDGTPRCSC PVHLVLLQNL LTCGEPPTCS 
PDQFACATGE IDCIPGAWRC DGFPECDDQS DEEGCPVCSA AQFPCARGQC VDLRLRCDGE 
ADCQDRSDEA DCDAICLPNQ FRCASGQCVL IKQQCDSFPD CIDGSDELMC EITKPPSDDS 
PAHSSAIGPV IGIILSLFVM GGVYFVCQRV VCQRYAGANG PFPHEYVSGT PHVPLNFIAP 
GGSQHGPFTG IACGKSMMSS VSLMGGRGGV PLYDRNHVTG ASSSSSSSTK ATLYPPILNP 
PPSPATDPSL YNMDMFYSSN IPATARPYRP YIIRGMAPPT TPCSTDVCDS DYSASRWKAS 
KYYLDLNSDS DPYPPPPTPH SQYLSAEDSC PPSPATERSY FHLFPPPPSP CTDSS

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.