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Cubilin is involved in 25(OH) vitamin D uptake by adipocytes.
In adult mouse testes, strong Cubn immunoreactivity was found in the elongating spermatids. In Sertoli cells and peritubular cells, Cubn immunoreactivity was weak throughout the testis development. In the inter-stitium, Cubn immunoreactivity was found in foetal Leydig cells, was weak to negligible in the stem cells and progenitor Leydig cells and was strong in immature and adult Leydig cells.
Cubilin deficiency reduces renal salvage and delivery back to the blood of albumin and apolipoprotein (apo)A-I, which decreases blood levels of albumin and apoA-I/HD
cubilin and megalin mRNA expression is under epigenetic control
plasma membrane binding of Fgf8, and most likely of the Fgf8 family members Fgf17 and Fgf18, to Cubn improves Fgf ligand endocytosis and availability to FgfRs, thus modulating Fgf signaling activity.
Impaired protein endocytosis caused by invalidation of ClC-5 primarily reflects a trafficking defect of megalin and cubilin in PTC.
Cubilin expression is pronounced in the extraembryonic visceral endoderm of embryos. Cubilin, is also expressed by a subpopulation of cells dispersed within the embryonic endoderm having a migratory morphology.
Amn is an essential component of the Cubn receptor complex
Cubilin is required for embryonic development and is essential for the formation of somites, and definitive endoderm.
Inactivation of RFC1 impacts the expression of several ligands and interacting proteins in the cubilin-amnionless-megalin complex that are involved in the maternal-fetal transport of folate and other nutrients.
Study shows that cubilin mutations (novel and some previously reported) and all previously reported amnionless missense mutations resulted in endoplasmic reticulum retention and completely inhibited amnionless-dependent plasma membrane expression of cubilin.
in teens with positive recto-vaginal group B streptococcus colonization, placental mRNA expression of cubilin is lower compared to those who tested negative for this infection
Study identified CUBN as a marker for risk stratification of patients with renal cell carcinoma (RCC). Lack of CUBN expression was significantly associated with early disease progression and poor patient outcome, independent of T-stage, Fuhrman grade and nodal status. Owing to a highly RCC-specific expression profile, CUBN expression also has a potential role in clinical cancer differential diagnostics.
CUBN SNP rs1801239 (I2984V), previously associated with albuminuria, was significantly associated with T2D-ESRD in blacks.
Tumoral expression of cubilin is a positive predictive marker for treatment of metastatic renal cell cancer patients with sunitinib and sorafenib.
The CUBN haplotypes were associated with an altered gastric cancer risk.
CUBN was associated with albuminuria in type 2 diabetes patients.
The variant rs11254363 of the CUBN gene was associated with a decreased risk of developing congenital heart disease in Han Chinese populations
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.
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.
predisposition to multibacillary leprosy in Vietnam is associated with CUBN and NEBL common variants in the chromosome 10p13 linkage region
LOS treatment decreased microalbuminuria induced by Cd apparently through a cubilin receptor-dependent mechanism but independent of megalin.
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.
The p.I1e2984Val variant of cubulin is part of a larger haplotype in European populations that is almost absent in West Africans.
Single nucleotide polymorphisms in cubilin gene is associated with iron overload.
These data suggest that CUBN is not involved in cleft lip or palate onset in the investigated Italian population
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.
used immunocytochemistry and reverse transcription-polymerase chain reaction on laser-captured glomeruli to demonstrate synthesis and expression of cubilin in glomerular podocytes
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.
Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia.
cubilin (intrinsic factor-cobalamin receptor)
, 460 kDa receptor
, glycoprotein 280
, intrinsic factor-cobalamin receptor
, intrinsic factor-vitamin B12 receptor
, cubilin precursor variant 1
, cubilin precursor variant 2
, intestinal intrinsic factor receptor