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Aliases for CUBN Gene

Aliases for CUBN Gene

  • Cubilin 2 3 5
  • Cubilin (Intrinsic Factor-Cobalamin Receptor) 2 3
  • Intrinsic Factor-Vitamin B12 Receptor 3 4
  • Intestinal Intrinsic Factor Receptor 3 4
  • Intrinsic Factor-Cobalamin Receptor 2 4
  • 460 KDa Receptor 3 4
  • IFCR 3 4
  • Cubilin Precursor Variant 1 3
  • Cubilin Precursor Variant 2 3
  • Cubilin Precursor Variant 3 3
  • Gp280 3
  • MGA1 3

External Ids for CUBN Gene

Previous HGNC Symbols for CUBN Gene

  • MGA1

Previous GeneCards Identifiers for CUBN Gene

  • GC10M016848
  • GC10M017016
  • GC10M016870

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) is a Protein Coding gene. Diseases associated with CUBN include megaloblastic anemia-1, finnish type and megaloblastic anemia. Among its related pathways are Lipoprotein metabolism and Metabolism. GO annotations related to this gene include calcium ion binding and receptor activity. An important paralog of this gene is MFRP.

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

Regulatory Elements for CUBN Gene

Genomic Location for CUBN Gene

Chromosome:
10
Start:
16,823,964 bp from pter
End:
17,130,249 bp from pter
Size:
306,286 bases
Orientation:
Minus strand

Genomic View for CUBN Gene

Genes around CUBN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CUBN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CUBN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Asn 105, Asn 428, Asn 482, Asn 711, Asn 749, Asn 781, Asn 857, Asn 957, Asn 984, Asn 1092, Asn 1168, Asn 1217, Asn 1285, Asn 1307, Asn 1319, Asn 1332, Asn 1500, Asn 1551, Asn 1646, Asn 1802, Asn 1819, Asn 1885, Asn 2085, Asn 2117, Asn 2274, Asn 2386, Asn 2400, Asn 2531, Asn 2581, Asn 2592, Asn 2610, Asn 2813, Asn 2923, Asn 2945, Asn 3042, Asn 3103, Asn 3125, Asn 3165, Asn 3268, Asn 3283, Asn 3290, Asn 3295, Asn 3357, Asn 3430, Asn 3457, Asn 3533, and Asn 3576
  • Modification sites at PhosphoSitePlus

Other Protein References for CUBN Gene

Antibody Products

No data available for DME Specific Peptides for CUBN Gene

Domains & Families for CUBN Gene

Graphical View of Domain Structure for InterPro Entry

O60494

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for CUBN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CUBN Gene

MGI Knock Outs for CUBN:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
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 IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
GO:0005903 brush border IEA --
genes like me logo Genes that share ontologies with CUBN: view

Pathways & Interactions for CUBN Gene

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:0008203 cholesterol metabolic process IEA --
GO:0042359 vitamin D metabolic process TAS --
GO:0042953 lipoprotein transport IEA --
genes like me logo Genes that share ontologies with CUBN: view

No data available for SIGNOR curated interactions for CUBN Gene

Drugs & Compounds for CUBN Gene

(12) Drugs for CUBN Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other 227
Cyanocobalamin Approved Nutra Transporter, substrate 227
calcium Nutra 0
Cobalamin Nutra 227
Cobalt Pharma 155

(5) Additional Compounds for CUBN Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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 (x17.2).

Protein differential expression in normal tissues from HIPED for CUBN Gene

This gene is overexpressed in Urine (55.1) and Kidney (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CUBN: view

Protein tissue co-expression partners for CUBN Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CUBN 36
  • 80 (a)
OneToOne
CUBN 35
  • 83.61 (n)
  • 79.72 (a)
dog
(Canis familiaris)
Mammalia CUBN 35
  • 85.9 (n)
  • 83.12 (a)
CUBN 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cubn 16
Cubn 36
  • 70 (a)
OneToOne
Cubn 35
  • 76.57 (n)
  • 70.06 (a)
oppossum
(Monodelphis domestica)
Mammalia CUBN 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cubn 35
  • 75.94 (n)
  • 70.03 (a)
chicken
(Gallus gallus)
Aves CUBN 35
  • 65.07 (n)
  • 59.99 (a)
CUBN 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cubn 35
  • 62.03 (n)
  • 57.22 (a)
zebrafish
(Danio rerio)
Actinopterygii cubn 36
  • 53 (a)
OneToOne
cubn 35
  • 58.58 (n)
  • 53.76 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005526 35
  • 43.34 (n)
  • 33.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32702 36
  • 28 (a)
ManyToMany
CG42255 36
  • 24 (a)
ManyToMany
CG32702 35
  • 42.66 (n)
  • 31.71 (a)
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 35
  • 41.9 (n)
  • 28.11 (a)
ZC116.3 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs1801220 - 17,126,778(-) GAAAA(A/T)TCCAA reference, missense
rs1801222 - 17,114,152(-) GATGT(C/T)TTCAC reference, missense
rs1801224 - 17,105,522(-) ATGGG(A/C/G)CAAAT reference, missense
rs1801227 - 17,065,553(-) TCGCT(C/T)ATGAA reference, missense
VAR_025288 Recessive hereditary megaloblastic anemia 1 (RH-MGA1)

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

Variation tolerance for CUBN Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.00; 98.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CUBN Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CUBN Gene

Disorders for CUBN Gene

MalaCards: The human disease database

(10) MalaCards diseases for CUBN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
megaloblastic anemia-1, finnish type
  • megaloblastic anemia-1, norwegian type
megaloblastic anemia
  • grasbeck-imerslund syndrome
dent disease
  • dent disease 1
cystinosis
  • cystine storage disease
fanconi syndrome
  • adult fanconi anemia
- elite association - COSMIC cancer census association via MalaCards
Search CUBN in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:10080186, ECO:0000269 PubMed:10887099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CUBN

Genetic Association Database (GAD)
CUBN
Human Genome Epidemiology (HuGE) Navigator
CUBN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CUBN
genes like me logo Genes that share disorders with CUBN: view

No data available for Genatlas for CUBN Gene

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 67
  2. Composite organization of the cobalamin binding and cubilin recognition sites of intrinsic factor. (PMID: 15736970) Fedosov S.N. … Petersen T.E. (Biochemistry 2005) 3 23 25 26
  3. New insights into carrier binding and epithelial uptake of the erythropoietic nutrients cobalamin and folate. (PMID: 16567952) Moestrup S.K. (Curr. Opin. Hematol. 2006) 23 25 26
  4. Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. (PMID: 15845892) He Q. … Fyfe J.C. (Blood 2005) 23 25 26
  5. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PMID: 19161160) Franke B. … Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009) 3 23

Products for CUBN Gene

Sources for CUBN Gene

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