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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 a (显示 ALB 蛋白)nd apolipoprotein (apo)A-I (显示 APOA 蛋白), which decreases blood levels of albumin and apoA-I (显示 ALB 蛋白)/HD
cubilin and megalin (显示 LRP2 蛋白) mRNA expression is under epigenetic control
plasma membrane binding of Fgf8 (显示 FGF8 蛋白), and most likely of the Fgf8 (显示 FGF8 蛋白) family members Fgf17 (显示 FGF17 蛋白) and Fgf18 (显示 FGF18 蛋白), to Cubn improves Fgf ligand endocytosis and availability to FgfRs, thus modulating Fgf signaling activity.
Impaired protein endocytosis caused by invalidation of ClC-5 (显示 CLCN5 蛋白) primarily reflects a trafficking defect of megalin (显示 LRP2 蛋白) and cubilin in PTC (显示 PTCH1 蛋白).
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 (显示 TRAF3 蛋白) 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 (显示 RFC1 蛋白) impacts the expression of several ligands and interacting proteins in the cubilin-amnionless (显示 AMN 蛋白)-megalin (显示 LRP2 蛋白) complex that are involved in the maternal-fetal transport of folate and other nutrients.
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 (显示 MOK 蛋白) (RCC (显示 XRCC1 蛋白)). 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 (显示 XRCC1 蛋白)-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 (显示 ALB 蛋白) and apolipoprotein (apo)A (显示 APOA 蛋白)-I, significantly increasing urinary loss of albumin (显示 ALB 蛋白) and apoA-I (显示 APOA1 蛋白).
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