Property Summary

NCBI Gene PubMed Count 73
PubMed Score 164.09
PubTator Score 113.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
nephrosclerosis -1.836 4.5e-02
osteosarcoma 2.233 2.6e-06

Gene RIF (42)

PMID Text
26631737 CUBN was associated with albuminuria in type 2 diabetes patients.
24563210 predisposition to multibacillary leprosy in Vietnam is associated with CUBN and NEBL common variants in the chromosome 10p13 linkage region
24533076 The variant rs11254363 of the CUBN gene was associated with a decreased risk of developing congenital heart disease in Han Chinese populations
24357674 Cubilin haploinsufficiency leads to reduced renal proximal tubular uptake of albumin and apolipoprotein (apo)A-I, significantly increasing urinary loss of albumin and apoA-I.
24093454 LOS treatment decreased microalbuminuria induced by Cd apparently through a cubilin receptor-dependent mechanism but independent of megalin.
24052458 MA is associated with CVD irrespective of the presence of the CUBN risk allele. These results challenge the concept that albuminuria in the setting of this mutation is benign.
23978537 Data suggest that endodermal layer of yolk sac and syncytiotrophoblast/cytotrophoblast cells of placental villi express cubilin mRNA/protein; expression of cubilin mRNA/protein is up-regulated as gestation/placentation progresses.
23114252 The p.I1e2984Val variant of cubulin is part of a larger haplotype in European populations that is almost absent in West Africans.
22929189 Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF.
22761678 Single nucleotide polymorphisms in cubilin gene is associated with iron overload.
22574174 CUBN rs7918972 as a novel risk variant for renal function loss
22437417 Expression of megalin and cubilin is decreased during experimental endotoxemia, which may contribute to an increase in urine levels of albumin during acute renal failure.
22337902 used immunocytochemistry and reverse transcription-polymerase chain reaction on laser-captured glomeruli to demonstrate synthesis and expression of cubilin in glomerular podocytes
21903995 A novel 1-bp homozygous deletion of the cubilin was found to be the cause of proteinuria with nephrotic syndrome.
21781439 These data suggest that CUBN is not involved in cleft lip or palate onset in the investigated Italian population
21750092 amnionless is essential for the correct luminal expression of cubilin in humans.
21595846 megalin and cubilin are involved in the metabolism of vitamin D by reabsorbing vitamin D binding protein; dysfunction of these receptors is likely to be associated with the development of vitamin D deficiency in patients with chronic kidney disease
21355061 There is a missense CUBN variant that associates with levels of albuminuria in both the general population and in individuals with diabetes.
20855565 Observational study of gene-disease association. (HuGE Navigator)
20852008 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20615890 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20398757 cubilin gene polymorphisms have an influence on 25(OH)D3 and 1,25(OH)2D3 plasma levels in type 1 diabetes patients
20398757 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237569 crystal structure of the complex between IF-Cbl and the cubilin IF-Cbl-binding-region (CUB(5-8)) determined at 3.3 A resolution
19913121 Observational study of gene-disease association. (HuGE Navigator)
19878569 Observational study of gene-disease association. (HuGE Navigator)
19366958 Aberrant shedding of megalin and cubilin may contribute to albuminuria in diabetes and to deficiency states of important vitamins and hormones.
19161160 An association study of 45 folate-related genes in spina bifida: Involvement of cubilin
19161160 Observational study of gene-disease association. (HuGE Navigator)
18791690 results show different expression patterns of megalin and cubulin in calculous gallbladders and acalculous gallbladders suggesting an association with gallstone formation and implying a putative role of the two proteins in cholesterol endocytosis
18448595 light chain endocytosis is predominantly mediated by the megalin-cubilin tandem endocytic receptor and identify endocytosis as a key step in light chain cytotoxicity.
17979745 This review summarizes recent data on the biological function of cubilin and focuses on its implication in embryonic nutrition and central nervous system malformations.
17487979 interactions of COBALAMIN BINDING proteins with a number of ligands
16385451 Observational study of gene-disease association. (HuGE Navigator)
15736970 Formation of the cubilin recognition site on intrinsic factor (IF) is caused by assembly of two distant domains, which allows the saturated IF protein to be recognized by the receptor.
15616221 the early cubilin expression and its function in protein and cholesterol uptake suggest an important role for cubilin in the development of the peri-implantation embryo
14576052 cubilin and amnionless are subunits of a novel cubilin/amnionless (cubam) complex
12687456 proteinuria was due to the lack of cubilin function needed for tubular reabsorption of some, but not all, proteins of the primary urine.
11994745 Megalin and cubilin: multifunctional endocytic receptors. A review.
11788601 Comparative analysis of cobalamin binding kinetics

AA Sequence

MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQNIEFRTGSLGK      1 - 70
IKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDLERKFQGLQQTVDKKVCSSNP     71 - 140
CQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGTPLSCQNGGTCVNTMGSYSCHCPPETYGPQC    141 - 210
ASKYDDCEGGSVARCVHGICEDLMREQAGEPKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQC    211 - 280
FNTQGSFYCGACPTGWQGNGYICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLT    281 - 350
DICSVSNGGCHPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKC    351 - 420
DSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSGINGSFSYRSP    421 - 490
DVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMDNCPHEFLQVYDGDSSSAFQLGRFCGSSLPHELLSS    491 - 560
DNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGSIKSPGYPGNYPPGRDCVWIVVTSPDLLVTF    561 - 630
TFGTLSLEHHDDCNKDYLEIRDGPLYQDPLLGKFCTTFSVPPLQTTGPFARIHFHSDSQISDQGFHITYL    631 - 700
TSPSDLRCGGNYTDPEGELFLPELSGPFTHTRQCVYMMKQPQGEQIQINFTHVELQCQSDSSQNYIEVRD    701 - 770
GETLLGKVCGNGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEGVIRSPFFPNVYPGER    771 - 840
TCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFITSVYNFLYVTF    841 - 910
VKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTWHILVQPNHLIHLMFETFHLE    911 - 980
FHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSLMLVFVTDSDLAYEGFLINYEAISAATACLQ    981 - 1050
DYTDDLGTFTSPNFPNNYPNNWECIYRITVRTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLL   1051 - 1120
GIFYGSNLPPTIISHSNKLWLKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSE   1121 - 1190
CYWWLKSSHGSAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLR   1191 - 1260
TDEGQQGRGFKAEYRQTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNYTFLAFDLEHH   1261 - 1330
INCSTDYLELYDGPRQMGRYCGVDLPPPGSTTSSKLQVLLLTDGVGRREKGFQMQWFVYGCGGELSGATG   1331 - 1400
SFSSPGFPNRYPPNKECIWYIRTDPGSSIQLTIHDFDVEYHSRCNFDVLEIYGGPDFHSPRIAQLCTQRS   1401 - 1470
PENPMQVSSTGNELAIRFKTDLSINGRGFNASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVI   1471 - 1540
RVDRNHRVLLNFTDFDLEPQDSCIMAYDGLSSTMSRLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNR   1541 - 1610
GFRAQFRQACGGHILTSSFDTVSSPRFPANYPNNQNCSWIIQAQPPLNHITLSFTHFELERSTTCARDFV   1611 - 1680
EILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAGGFHTTVTASVSACGGTFYMAEGIFN   1681 - 1750
SPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIREGNATGHLVGRYCGNSFPLNY   1751 - 1820
SSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTHGKVASPFWPENYPHNSNYQWTVNVNASHVV   1821 - 1890
HGRILEMDIEEIQNCYYDKLRIYDGPSIHARLIGAYCGTQTESFSSTGNSLTFHFYSDSSISGKGFLLEW   1891 - 1960
FAVDAPDGVLPTIAPGACGGFLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLDIESHR   1961 - 2030
TCAYDSLVIRDGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADR   2031 - 2100
GIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPDICSPPLGPPG   2101 - 2170
GNGHFCGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGNVYIHDADSAGYVTSPNHPHN   2171 - 2240
YPPHADCIWILAAPPETRIQLQFEDRFDIEVTPNCTSNYLELRDGVDSDAPILSKFCGTSLPSSQWSSGE   2241 - 2310
VMYLRFRSDNSPTHVGFKAKYSIAQCGGRVPGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFE   2311 - 2380
DFNLQNSSGCEKDFVEIWDNHTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSME   2381 - 2450
ECGGDLQGSIGTFTSPNYPNPNPHGRICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNS   2451 - 2520
PQLEKLCSSVNVSNEIKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGSLPNTPEGNFTSPGYDGV   2521 - 2590
RNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESHQDCQFDVLEFRVGDADGPLMWRLCGPSKPTLPLVI   2591 - 2660
PYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVITSPNYPNAYDSLTHCSSLLEAPQGHTITLT   2661 - 2730
FSDFDIEPHTTCAWDSVTVRNGGSPESPIIGQYCGNSNPRTIQSGSNQLVVTFNSDHSLQGGGFYATWNT   2731 - 2800
QTLGCGGIFHSDNGTIRSPHWPQNFPENSRCSWTAITHKSKHLEISFDNNFLIPSGDGQCQNSFVKVWAG   2801 - 2870
TEEVDKALLATGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFTGPSGYIISPNYPKQY   2871 - 2940
DNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCGDEMPAPLTIA   2941 - 3010
GPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPNDMHCLYTITVSDDKVIELKF   3011 - 3080
SDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPNVKSSNNSMLLVFKTDSFQTAKGWKMSFRQT   3081 - 3150
LGPQQGCGGYLTGSNNTFASPDSDSNGMYDKNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYV   3151 - 3220
KLYDGDSENANLAGTFCGSTVPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQN   3221 - 3290
ISSPNSSDPDVPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASA   3291 - 3360
VPVFYSSMSTAMVIFKSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKDCTVTLTAPQN   3361 - 3430
HTISLFFHSLGIENSVECRNDFLEVRNGSNSNSPLLGKYCGTLLPNPVFSQNNELYLRFKSDSVTSDRGY   3431 - 3500
EIIWTSSPSGCGGTLYGDRGSFTSPGYPGTYPNNTYCEWVLVAPAGRLVTINFYFISIDDPGDCVQNYLT   3501 - 3570
LYDGPNASSPSSGPYCGGDTSIAPFVASSNQVFIKFHADYARRPSAFRLTWDS                    3571 - 3623
//

Text Mined References (75)

PMID Year Title
26631737 2016 Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
25147783 2014 Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
24563210 2014 CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam.
24533076 2014 A genetic variant in vitamin B12 metabolic genes that reduces the risk of congenital heart disease in Han Chinese populations.
24357674 2014 Cubilin maintains blood levels of HDL and albumin.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
24093454 2013 Impaired endocytosis in proximal tubule from subchronic exposure to cadmium involves angiotensin II type 1 and cubilin receptors.
24052458 2014 The association of a single-nucleotide polymorphism in CUBN and the risk of albuminuria and cardiovascular disease.
23978537 2013 Expression and immunolocalisation of the endocytic receptors megalin and cubilin in the human yolk sac and placenta across gestation.
23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23114252 2012 Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations.
22929189 2012 Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
22761678 2012 Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.
22574174 2012 CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.
22437417 2012 Acute endotoxemia in mice induces downregulation of megalin and cubilin in the kidney.
22337902 2012 Cubilin is expressed in rat and human glomerular podocytes.
21903995 2011 Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
21781439 No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.
21750092 2011 Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.
21595846 2011 Role of megalin and cubilin in the metabolism of vitamin D(3).
21355061 2011 CUBN is a gene locus for albuminuria.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
21116278 2011 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
21082674 2010 Comprehensive analysis of low-abundance proteins in human urinary exosomes using peptide ligand library technology, peptide OFFGEL fractionation and nanoHPLC-chip-MS/MS.
20855565 2010 Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
20852008 2010 Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20615890 2010 A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.
20398757 2010 The role of cubilin gene polymorphisms and their influence on 25(OH)D3 and 1,25(OH)2D3 plasma levels in type 1 diabetes patients.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20237569 2010 Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19878569 2009 Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
19744961 2009 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
19366958 2009 Microalbuminuria in type 1 diabetes is associated with enhanced excretion of the endocytic multiligand receptors megalin and cubilin.
19303062 2009 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
19197348 2009 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
19161160 2009 An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18791690 2008 Megalin and cubilin in the human gallbladder epithelium.
18448595 2008 Silencing megalin and cubilin genes inhibits myeloma light chain endocytosis and ameliorates toxicity in human renal proximal tubule epithelial cells.
17979745 2007 Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless.
17487979 2007 Mechanisms of discrimination between cobalamins and their natural analogues during their binding to the specific B12-transporting proteins.
17124247 2007 Identification of the ligands of protein interaction domains through a functional approach.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15951480 2005 Vitamin D.
15736970 2005 Composite organization of the cobalamin binding and cubilin recognition sites of intrinsic factor.
15616221 2005 Expression and role of cubilin in the internalization of nutrients during the peri-implantation development of the rodent embryo.
15583024 2004 Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14576052 2004 The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.
12687456 2003 Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption.
11994745 2002 Megalin and cubilin: multifunctional endocytic receptors.
11856751 2002 Cubilin, a binding partner for galectin-3 in the murine utero-placental complex.
11788601 2002 Comparative analysis of cobalamin binding kinetics and ligand protection for intrinsic factor, transcobalamin, and haptocorrin.
11717447 2001 Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3).
11606717 2001 Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia.
11595644 2001 Cubilin and megalin expression and their interaction in the rat intestine: effect of thyroidectomy.
11278724 2001 A two-receptor pathway for catabolism of Clara cell secretory protein in the kidney.
10887099 2000 Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.
10811843 2000 Cubilin is an albumin binding protein important for renal tubular albumin reabsorption.
10552972 1999 Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption.
10371504 1999 The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein.
10080186 1999 Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
10037728 1999 The intrinsic factor-vitamin B12 receptor, cubilin, is assembled into trimers via a coiled-coil alpha-helix.
9691015 1998 Myeloma light chains are ligands for cubilin (gp280).
9572993 1998 The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.
9478979 1998 The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins.
9334227 1997 Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein.
8510165 1993 The CUB domain. A widespread module in developmentally regulated proteins.