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CUBN cubilin (intrinsic factor-cobalamin receptor) [ Homo sapiens (human) ]

Gene ID: 8029, updated on 19-Jul-2014
Official Symbol
CUBNprovided by HGNC
Official Full Name
cubilin (intrinsic factor-cobalamin receptor)provided by HGNC
Primary source
HGNC:2548
Locus tag
RP11-416D8.1
See related
Ensembl:ENSG00000107611; HPRD:04296; MIM:602997; Vega:OTTHUMG00000017741
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IFCR; MGA1; gp280
Summary
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. [provided by RefSeq, Jul 2008]
See CUBN in Epigenomics, MapViewer
Location:
10p12.31
Exon count :
67
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (16823966..17129817, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (16865965..17171816, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928701 Neighboring gene Ras suppressor protein 1 Neighboring gene tRNA aspartic acid methyltransferase 1 Neighboring gene VIM antisense RNA 1 Neighboring gene vimentin

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Megaloblastic anemia due to inborn errors of metabolism
MedGen: C1306856 OMIM: 261100 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
NHGRI GWA Catalog
CUBN is a gene locus for albuminuria.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
cobalamin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
receptor activity IEA
Inferred from Electronic Annotation
more info
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
cobalamin transport TAS
Traceable Author Statement
more info
PubMed 
lipoprotein metabolic process TAS
Traceable Author Statement
more info
 
lipoprotein transport IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process TAS
Traceable Author Statement
more info
 
tissue homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
vitamin D metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane NAS
Non-traceable Author Statement
more info
PubMed 
coated pit IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of external side of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
cubilin
Names
cubilin
460 kDa receptor
cubilin precursor variant 1
cubilin precursor variant 2
intestinal intrinsic factor receptor
intrinsic factor-vitamin B12 receptor

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.

Genomic

  1. NG_008967.1 

    Range
    5001..310852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_540

mRNA and Protein(s)

  1. NM_001081.3NP_001072.2  cubilin precursor

    See proteins identical to NP_001072.2

    Status: REVIEWED

    Source sequence(s)
    AC067747, AF034611, AL365215, AL731551, BP270790, BP271329
    Consensus CDS
    CCDS7113.1
    UniProtKB/Swiss-Prot
    O60494
    Related
    ENSP00000367064, OTTHUMP00000019220, ENST00000377833, OTTHUMT00000047009
    Conserved Domains (3) summary
    cd00041
    Location:16201733
    Blast Score: 353
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00054
    Location:170210
    Blast Score: 133
    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:353387
    Blast Score: 123
    EGF_3; EGF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    16823966..17129817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    16779758..17084998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    16866152..17171970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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