Cubn cubilin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cubnprovided by MGI
Official Full Name: cubilinprovided by MGI
Primary source: MGI:MGI:1931256
See related: Ensembl:ENSMUSG00000026726 AllianceGenome:MGI:1931256
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D2Wsu88e
Summary: Predicted to enable cargo receptor activity; hemoglobin binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including lipoprotein transport; receptor-mediated endocytosis; and response to bacterium. Located in several cellular components, including brush border; clathrin-coated pit; and cytoplasmic vesicle. Is active in microvillus membrane. Is expressed in several structures, including egg cylinder; embryo endoderm; genitourinary system; and midgut. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human CUBN (cubilin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in placenta adult (RPKM 57.5), kidney adult (RPKM 23.7) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A1; 2 9.86 cM

Exon count:: 67

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (13281149..13496687, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (13276338..13491876, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.
Title: Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.
In the proximal kidney tubules cubilin binding to albumin is tuned to capture normally filtered levels of the protein.
Title: Distinct functions of megalin and cubilin receptors in recovery of normal and nephrotic levels of filtered albumin.
Low cubilin expression is associated with proteinuria.
Title: Reduced proximal tubular expression of protein endocytic receptors in proteinuria is associated with urinary receptor shedding.
Cubilin is involved in 25(OH) vitamin D uptake by adipocytes.
Title: Gene Expression Pattern in Response to Cholecalciferol Supplementation Highlights Cubilin as a Major Protein of 25(OH)D Uptake in Adipocytes and Male Mice White Adipose Tissue.
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.
Title: Expression of cubilin in mouse testes and 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
Title: Cubilin maintains blood levels of HDL and albumin.
cubilin and megalin mRNA expression is under epigenetic control
Title: Cubilin expression is monoallelic and epigenetically augmented via PPARs.
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.
Title: Cubilin, a high affinity receptor for fibroblast growth factor 8, is required for cell survival in the developing vertebrate head.
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.
Title: Microarray analysis of E9.5 reduced folate carrier (RFC1; Slc19a1) knockout embryos reveals altered expression of genes in the cubilin-megalin multiligand endocytic receptor complex.
Cubilin is required for embryonic development and is essential for the formation of somites, and definitive endoderm.
Title: Targeted disruption of cubilin reveals essential developmental roles in the structure and function of endoderm and in somite formation.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cubn (e-PCR), detects polymorphism
- UniSTS:516132

RH125870 (e-PCR)
- UniSTS:142380

NoName (e-PCR)
- UniSTS:234329

RH115007 (e-PCR)
- UniSTS:160911

Cubn (e-PCR), detects polymorphism
- UniSTS:502708

RH124704 (e-PCR)
- UniSTS:161526

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables cargo receptor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables cobalamin binding	IEA Inferred from Electronic Annotation more info
enables hemoglobin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cobalamin catabolic process	ISO Inferred from Sequence Orthology more info
involved_in cobalamin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cobalamin transport	ISO Inferred from Sequence Orthology more info	PubMed
involved_in endocytic hemoglobin import into cell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipoprotein transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within receptor-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi-associated vesicle	ISO Inferred from Sequence Orthology more info
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated pit	ISO Inferred from Sequence Orthology more info
located_in coated vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle	ISO Inferred from Sequence Orthology more info
located_in endocytic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in lysosomal lumen	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
is_active_in microvillus membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info
part_of receptor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cubilin

Names: intrinsic factor-cobalamin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001081084.2 → NP_001074553.1 cubilin precursor

See identical proteins and their annotated locations for NP_001074553.1

Status: VALIDATED

Source sequence(s)

AF197159, AK141391, AL773538, AL928807, CF165743, CF169457, CK390258, CK391058, CK391475, CK391977, CK623807

Consensus CDS

CCDS38048.1

UniProtKB/Swiss-Prot

B1AX10, Q9JLB4

Related

ENSMUSP00000089009.6, ENSMUST00000091436.7

Conserved Domains (4) summary

smart00179
Location:260 → 301

EGF_CA; Calcium-binding EGF-like domain

cd00041
Location:2689 → 2800

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00054
Location:432 → 468

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam12947
Location:306 → 344

EGF_3; EGF domain