CUBN cubilin [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: CUBNprovided by VGNC
Official Full Name: cubilinprovided by VGNC
Primary source: VGNC:VGNC:39725
See related: Ensembl:ENSCAFG00845014048
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 67

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	2	NC_051806.1 (20075720..20333544)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	2	NC_006584.4 (16887230..17151382)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	2	NC_049223.1 (18734135..18999935)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	2	NC_049262.1 (17278052..17541754)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	2	NC_049743.1 (18116485..18374283)

Chromosome 2 - NC_051806.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study reports results of a genome-wide positional gene approach leading to discovery of a single base deletion in CUBN causing Imerslund-Grasbeck syndrome in border collies
Title: An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.
AMN interacts with the EGF domains of cubilin for membrane attachment and export from the endoplasmic reticulum, while extracellular cubilin does apical sorting of the complex in a carbohydrate-dependent manner
Title: Contribution of cubilin and amnionless to processing and membrane targeting of cubilin-amnionless complex.
Imerslund-Grasbeck syndromes due to an in-frame deletion of 33 nucleotides in exon 10 of AMN or a homozygous substitution in the AMN translation initiation codonabrogate AMN expression and block cubilin processing and targeting to the apical membrane.
Title: Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo.

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: cubilin

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_001003148.2 → NP_001003148.2 cubilin precursor

Status: VALIDATED

Source sequence(s)

AF137068, JAAUVH010000373

UniProtKB/Swiss-Prot

Q9TU53

Related

ENSCAFP00845019782.1, ENSCAFT00845025152.1

Conserved Domains (5) summary

smart00179
Location:302 → 345

EGF_CA; Calcium-binding EGF-like domain

cd00041
Location:1617 → 1730

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

cd00054
Location:429 → 465

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:350 → 384

EGF_3; EGF domain

cd22201
Location:29 → 132

cubilin_NTD; N-terminal domain of cubilin and similar proteins