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CUBN cubilin [ Homo sapiens (human) ]

Gene ID: 8029, updated on 16-Oct-2021

Summary

Official Symbol
CUBNprovided by HGNC
Official Full Name
cubilinprovided by HGNC
Primary source
HGNC:HGNC:2548
See related
Ensembl:ENSG00000107611 MIM:602997
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
IGS; IFCR; IGS1; 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]
Expression
Biased expression in kidney (RPKM 65.4) and small intestine (RPKM 9.4) See more
Orthologs
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Genomic context

See CUBN in Genome Data Viewer
Location:
10p13
Exon count:
71
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (16823966..17130492, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (16865965..17171810, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4915 Neighboring gene Ras suppressor protein 1 Neighboring gene uncharacterized LOC105376435 Neighboring gene GATA motif-containing MPRA enhancer 283 Neighboring gene Sharpr-MPRA regulatory region 1431 Neighboring gene tRNA aspartic acid methyltransferase 1 Neighboring gene VIM antisense RNA 1 Neighboring gene vimentin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
GeneReviews: Not available
CUBN is a gene locus for albuminuria.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
GeneReviews: Not available
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
GeneReviews: Not available
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
GeneReviews: Not available
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
GeneReviews: Not available
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
GeneReviews: Not available
Imerslund-Grasbeck syndrome 1
MedGen: C4016819 OMIM: 261100 GeneReviews: Not available
Compare labs
Proteinuria, chronic benign
MedGen: C5394384 OMIM: 618884 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90055, FLJ90747

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables cargo receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables cobalamin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
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 transport TAS
Traceable Author Statement
more info
PubMed 
involved_in lipoprotein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor-mediated endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in tissue homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in brush border membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in extrinsic component of external side of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cubilin
Names
460 kDa receptor
cubilin (intrinsic factor-cobalamin receptor)
cubilin precursor variant 1
cubilin precursor variant 2
cubilin precursor variant 3
intestinal intrinsic factor receptor
intrinsic factor-vitamin B12 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.

Genomic

  1. NG_008967.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001081.4NP_001072.2  cubilin precursor

    See identical proteins and their annotated locations for NP_001072.2

    Status: REVIEWED

    Source sequence(s)
    AC067747, AF034611, AL365215, AL731551, BP270790, BP271329
    Consensus CDS
    CCDS7113.1
    UniProtKB/Swiss-Prot
    O60494
    Related
    ENSP00000367064.4, ENST00000377833.10
    Conserved Domains (7) summary
    smart00179
    Location:305348
    EGF_CA; Calcium-binding EGF-like domain
    cd00041
    Location:16201733
    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
    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 ...
    pfam00431
    Location:19782088
    CUB; CUB domain
    pfam12947
    Location:353387
    EGF_3; EGF domain
    cd22201
    Location:32135
    cubilin_NTD; N-terminal domain of cubilin and similar proteins
    cl00049
    Location:10481157
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    16823966..17130492 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519710.2XP_011518012.1  cubilin isoform X3

    Conserved Domains (2) summary
    cd00041
    Location:274387
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:632742
    CUB; CUB domain
  2. XM_011519709.2XP_011518011.1  cubilin isoform X2

    Conserved Domains (3) summary
    cd00041
    Location:282395
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:640750
    CUB; CUB domain
    cl00049
    Location:245
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
  3. XM_011519711.3XP_011518013.1  cubilin isoform X4

    Conserved Domains (2) summary
    cd00041
    Location:234347
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:592702
    CUB; CUB domain
  4. XM_011519708.2XP_011518010.1  cubilin isoform X1

    Conserved Domains (6) summary
    smart00179
    Location:263304
    EGF_CA; Calcium-binding EGF-like domain
    cd00041
    Location:16201733
    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
    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 ...
    pfam00431
    Location:19782088
    CUB; CUB domain
    pfam12947
    Location:353387
    EGF_3; EGF domain
    cl00049
    Location:10481157
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
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