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Aliases for CUBN Gene

Aliases for CUBN Gene

  • Cubilin (Intrinsic Factor-Cobalamin Receptor) 2 3
  • IFCR 3 4 6
  • Intrinsic Factor-Vitamin B12 Receptor 3 4
  • Intestinal Intrinsic Factor Receptor 3 4
  • 460 KDa Receptor 3 4
  • MGA1 3 6
  • Intrinsic Factor-Cobalamin Receptor 4
  • Cubilin Precursor Variant 1 3
  • Cubilin Precursor Variant 2 3
  • Cubilin 3
  • Gp280 3

External Ids for CUBN Gene

Previous Symbols for CUBN Gene

  • MGA1

Summaries for CUBN Gene

Entrez Gene Summary for CUBN Gene

  • 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]

GeneCards Summary for CUBN Gene

CUBN (Cubilin (Intrinsic Factor-Cobalamin Receptor)) is a Protein Coding gene. Diseases associated with CUBN include megaloblastic anemia-1, finnish type and megaloblastic anemia. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include calcium ion binding and receptor activity. An important paralog of this gene is TLL1.

UniProtKB/Swiss-Prot for CUBN Gene

  • Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. Interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.

Gene Wiki entry for CUBN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CUBN Gene

Genomics for CUBN Gene

Genomic Location for CUBN Gene

Start:
16,823,964 bp from pter
End:
17,129,831 bp from pter
Size:
305,868 bases
Orientation:
Minus strand

Genomic View for CUBN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CUBN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CUBN Gene

Regulatory Elements for CUBN Gene

Proteins for CUBN Gene

  • Protein details for CUBN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60494-CUBN_HUMAN
    Recommended name:
    Cubilin
    Protein Accession:
    O60494
    Secondary Accessions:
    • B0YIZ4
    • Q5VTA6
    • Q96RU9

    Protein attributes for CUBN Gene

    Size:
    3623 amino acids
    Molecular mass:
    398736 Da
    Quaternary structure:
    • Interacts with LRP2 in a dual-receptor complex in a calcium-dependent manner. Component of the cubam complex composed of CUBN and AMN. The cubam complex can oligomerize and form cubam trimers. Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with LRP1 and PID1/PCLI1.

    Three dimensional structures from OCA and Proteopedia for CUBN Gene

neXtProt entry for CUBN Gene

Proteomics data for CUBN Gene at MOPED

Post-translational modifications for CUBN Gene

  • N-glycosylated.
  • The precursor is cleaved by a trans-Golgi proteinase furin. The result is a propeptide cleaved off.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn105, Asn428, Asn482, Asn711, Asn749, Asn781, Asn857, Asn957, Asn984, Asn1092, Asn1168, Asn1217, Asn1285, Asn1307, Asn1319, Asn1332, Asn1500, Asn1551, Asn1646, Asn1802, Asn1819, Asn1885, Asn2085, Asn2117, Asn2274, Asn2386, Asn2400, Asn2531, Asn2581, Asn2592, Asn2610, Asn2813, Asn2923, Asn2945, Asn3042, Asn3103, Asn3125, Asn3165, Asn3268, Asn3283, Asn3290, Asn3295, Asn3357, Asn3430, Asn3457, Asn3533, and Asn3576

Other Protein References for CUBN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CUBN Gene

Domains for CUBN Gene

UniProtKB/Swiss-Prot:

CUBN_HUMAN
Domain:
  • The CUB domains 5 to 8 mediate binding to GIF and ALB. CUB domains 1 and 2 mediate interaction with LRP2:
    • O60494
  • Contains 27 CUB domains.:
    • O60494
  • Contains 7 EGF-like domains.:
    • O60494
genes like me logo Genes that share domains with CUBN: view

No data available for Gene Families for CUBN Gene

Function for CUBN Gene

Molecular function for CUBN Gene

GENATLAS Biochemistry: cobalamin binder-gastric intrinsic factor receptor,460kDa,cubilin,expressed in epithelium of intestine and kidney also high affinity apoprotein APO A-1 receptor facilitating endocytosis of high-density lipoprotein (HDC)
UniProtKB/Swiss-Prot Function: Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. Interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.

Gene Ontology (GO) - Molecular Function for CUBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IEA --
GO:0005215 transporter activity TAS 9478979
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 14576052
GO:0031419 cobalamin binding IEA --
genes like me logo Genes that share ontologies with CUBN: view
genes like me logo Genes that share phenotypes with CUBN: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CUBN Gene

Localization for CUBN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CUBN Gene

Endosome membrane; Peripheral membrane protein. Lysosome membrane; Peripheral membrane protein. Note=Colocalizes with AMN and LRP2 in the endocytotic apparatus of epithelial cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CUBN Gene COMPARTMENTS Subcellular localization image for CUBN gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
extracellular 3
endoplasmic reticulum 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for CUBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CUBN: view

Pathways for CUBN Gene

SuperPathways for CUBN Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Lipoprotein metabolism
3 Metabolism
4 Metabolism of steroid hormones and vitamin D
5 Disease
genes like me logo Genes that share pathways with CUBN: view

Gene Ontology (GO) - Biological Process for CUBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001894 tissue homeostasis NAS 11994745
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006898 receptor-mediated endocytosis NAS 11994745
GO:0008202 steroid metabolic process TAS --
genes like me logo Genes that share ontologies with CUBN: view

Compounds for CUBN Gene

(4) HMDB Compounds for CUBN Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Cobalamin
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
13408-78-1
Cobalt
  • Co
7440-48-4
Iron
  • Armco iron
7439-89-6

(2) Drugbank Compounds for CUBN Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cyanocobalamin
  • Cyanocob(III)alamin
68-19-9 transporter substrate
Hydroxocobalamin
  • Hydroxomin
13422-51-0 target other

(13) Novoseek inferred chemical compound relationships for CUBN Gene

Compound -log(P) Hits PubMed IDs
cobalamin 86.3 23
vitamin b12 74.5 10
tunicamycin 43.3 2
25-hydroxyvitamin d 42.4 1
vitamin d 39.4 3
genes like me logo Genes that share compounds with CUBN: view

Transcripts for CUBN Gene

Unigene Clusters for CUBN Gene

Cubilin (intrinsic factor-cobalamin receptor):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CUBN Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50a · 50b ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6:

ExUns: 51 ^ 52a · 52b ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64a · 64b ^ 65 ^ 66 ^ 67 ^ 68 ^ 69
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for CUBN Gene

GeneLoc Exon Structure for
CUBN
ECgene alternative splicing isoforms for
CUBN

Expression for CUBN Gene

mRNA expression in normal human tissues for CUBN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CUBN Gene

This gene is overexpressed in Kidney - Cortex (17.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CUBN Gene

SOURCE GeneReport for Unigene cluster for CUBN Gene Hs.166206

mRNA Expression by UniProt/SwissProt for CUBN Gene

O60494-CUBN_HUMAN
Tissue specificity: Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney
genes like me logo Genes that share expressions with CUBN: view

Orthologs for CUBN Gene

This gene was present in the common ancestor of animals.

Orthologs for CUBN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CUBN 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CUBN 36
  • 83.61 (n)
  • 79.72 (a)
CUBN 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CUBN 36
  • 85.9 (n)
  • 83.12 (a)
CUBN 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cubn 36
  • 76.57 (n)
  • 70.06 (a)
Cubn 16
Cubn 37
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CUBN 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 58 (a)
OneToMany
-- 37
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cubn 36
  • 75.94 (n)
  • 70.03 (a)
chicken
(Gallus gallus)
Aves CUBN 36
  • 65.07 (n)
  • 59.99 (a)
CUBN 37
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cubn 36
  • 62.03 (n)
  • 57.22 (a)
zebrafish
(Danio rerio)
Actinopterygii cubn 36
  • 58.58 (n)
  • 53.76 (a)
cubn 37
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005526 36
  • 43.34 (n)
  • 33.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32702 36
  • 42.66 (n)
  • 31.71 (a)
CG32702 37
  • 28 (a)
ManyToMany
CG42255 37
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 36
  • 41.9 (n)
  • 28.11 (a)
ZC116.3 37
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToOne
Species with no ortholog for CUBN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CUBN Gene

ENSEMBL:
Gene Tree for CUBN (if available)
TreeFam:
Gene Tree for CUBN (if available)

Paralogs for CUBN Gene

Paralogs for CUBN Gene

Pseudogenes.org Pseudogenes for CUBN Gene

genes like me logo Genes that share paralogs with CUBN: view

Variants for CUBN Gene

Sequence variations from dbSNP and Humsavar for CUBN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs703058 -- 16,834,053(-) AAAAC(A/C)AAGAG intron-variant
rs703059 -- 16,834,403(+) AGTGG(A/G)GGGTG intron-variant
rs703060 -- 16,834,923(+) ATATA(A/G)TATTA intron-variant
rs703061 -- 16,835,392(+) TGCAA(C/T)GCAAC intron-variant
rs703062 -- 16,836,205(+) CTTTT(C/T)TGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CUBN Gene

Variant ID Type Subtype PubMed ID
nsv894908 CNV Gain 21882294
nsv466758 CNV Gain 19166990
nsv831800 CNV Gain 17160897
nsv894909 CNV Gain 21882294
nsv470924 CNV Gain 18288195
nsv894910 CNV Gain 21882294
nsv5932 CNV Loss 18451855
esv21978 CNV Gain 19812545
nsv466759 CNV Gain 19166990
nsv894911 CNV Gain 21882294
esv2677828 CNV Deletion 23128226
esv22833 CNV Loss 19812545
nsv5943 CNV Insertion 18451855
nsv520521 CNV Loss 19592680
nsv831801 CNV Gain 17160897

Relevant External Links for CUBN Gene

HapMap Linkage Disequilibrium report
CUBN
Human Gene Mutation Database (HGMD)
CUBN

Disorders for CUBN Gene

(1) OMIM Diseases for CUBN Gene (602997)

UniProtKB/Swiss-Prot

CUBN_HUMAN
  • Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for CUBN Gene

(7) Novoseek inferred disease relationships for CUBN Gene

Disease -log(P) Hits PubMed IDs
imerslund-grasbeck syndrome 94.8 6
dent disease 88.3 1
anemia megaloblastic 86.1 5
proteinuria 69.9 14
malabsorption 69.8 6

Relevant External Links for CUBN

Genetic Association Database (GAD)
CUBN
Human Genome Epidemiology (HuGE) Navigator
CUBN
genes like me logo Genes that share disorders with CUBN: view

Publications for CUBN Gene

  1. The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. (PMID: 9572993) Kozyraki R. … Moestrup S.K. (Blood 1998) 2 3 4 23
  2. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. (PMID: 10080186) Aminoff M. … Krahe R. (Nat. Genet. 1999) 3 4 23
  3. The intrinsic factor-vitamin B12 receptor, cubilin, is a high- affinity apolipoprotein A-I receptor facilitating endocytosis of high- density lipoprotein. (PMID: 10371504) Kozyraki R. … Moestrup S.K. (Nat. Med. 1999) 3 4 23
  4. Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. (PMID: 10887099) Kristiansen M. … Moestrup S.K. (Blood 2000) 3 4 23
  5. Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia. (PMID: 11606717) Kozyraki R. … Moestrup S.K. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23

Products for CUBN Gene

Sources for CUBN Gene

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