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CUBN Gene

protein-coding   GIFtS: 60
GCID: GC10M016906

Cubilin (Intrinsic Factor-Cobalamin Receptor)


(Previous symbol: MGA1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cubilin (Intrinsic Factor-Cobalamin Receptor)1 2     cubilin2
MGA11 2 5     Cubilin Precursor Variant 12
IFCR2 3 5     Cubilin Precursor Variant 22
Intestinal Intrinsic Factor Receptor2 3     gp2802
Intrinsic Factor-Vitamin B12 Receptor2 3     Intrinsic Factor-Cobalamin Receptor3
460 KDa Receptor2 3     

External Ids:    HGNC: 25481   Entrez Gene: 80292   Ensembl: ENSG000001076117   OMIM: 6029975   UniProtKB: O604943   

Export aliases for CUBN gene to outside databases

Previous GC identifers: GC10M016848 GC10M017016 GC10M016870


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 imerslund-grasbeck syndrome. GO annotations related to this gene include receptor activity and calcium ion binding. An important paralog of this gene is TLL2.

UniProtKB/Swiss-Prot: CUBN_HUMAN, O60494
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 Wiki entry for CUBN (Cubilin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CUBN gene promoter:
         HFH-3   LHX3b/Lhx3b   FOXO3   FOXL1   FOXO3b   FOXI1   FOXC1   LHX3a/Lhx3a   FOXO3a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCUBN promoter sequence
   Search Chromatin IP Primers for CUBN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CUBN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p12.31   Ensembl cytogenetic band:  10p13   HGNC cytogenetic band: 10p12

CUBN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CUBN gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M016906:  view genomic region     (about GC identifiers)

Start:
16,865,963 bp from pter      End:
17,171,830 bp from pter
Size:
305,868 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CUBN_HUMAN, O60494 (See protein sequence)
Recommended Name: Cubilin precursor  
Size: 3623 amino acids; 398736 Da
Subunit: 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
1 PDB 3D structure from and Proteopedia for CUBN:
3KQ4 (3D)    
Secondary accessions: B0YIZ4 Q5VTA6 Q96RU9

Explore the universe of human proteins at neXtProt for CUBN: NX_O60494

Explore proteomics data for CUBN at MOPED

Post-translational modifications: 

  • The precursor is cleaved by a trans-Golgi proteinase furin. The result is a propeptide cleaved off1
  • N-glycosylated1
  • Glycosylation2 at Asn105, Asn428, Asn482, Asn711, Asn749, Asn781, Asn857, Asn957, Asn984, Asn1092,
                                 Asn1168, Asn1217, Asn1285, Asn1307, Asn1319, Asn1332, Asn1500, Asn1551, Asn1646, Asn1802 (see all 47)
  • Modification sites at PhosphoSitePlus

  • See CUBN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001072.2  
    ENSEMBL proteins: 
     ENSP00000367064   ENSP00000391830   ENSP00000415970   ENSP00000367054  
    Reactome Protein details: O60494

    CUBN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for CUBN
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CUBN

    CUBN Antibody Products:

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    R&D Systems Antibodies for CUBN (Cubilin)
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    Abcam antibodies for CUBN
    Cloud-Clone Corp. Antibodies for CUBN
    Search ThermoFisher Antibodies for CUBN
    Search LSBio for Antibodies for CUBN

    CUBN Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CUBN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CUBN
    Cloud-Clone Corp. CLIAs for CUBN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR024731 EGF_dom_MSP1-like
     IPR000859 CUB_dom

    Graphical View of Domain Structure for InterPro Entry O60494

    ProtoNet protein and cluster: O60494

    1 Blocks protein domain: IPB001881 EGF-like calcium-binding

    UniProtKB/Swiss-Prot: CUBN_HUMAN, O60494
    Domain: The CUB domains 5 to 8 mediate binding to GIF and ALB. CUB domains 1 and 2 mediate interaction with LRP2
    Similarity: Contains 27 CUB domains
    Similarity: Contains 7 EGF-like domains


    CUBN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CUBN_HUMAN, O60494
    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

         Genatlas biochemistry entry for CUBN:
    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)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS10080186
    GO:0005215transporter activity TAS9478979
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI14576052
    GO:0031419cobalamin binding IEA--
         
    CUBN for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cubn):
     cardiovascular system  embryogenesis  growth/size/body  homeostasis/metabolism  mortality/aging 
     renal/urinary system 

    CUBN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CUBN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CUBN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CUBN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CUBN

    miRNA
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    Block miRNA regulation of human, mouse, rat CUBN using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CUBN:
    hsa-miR-205* hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidCUBN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CUBN
    Predesigned siRNA for gene silencing in human, mouse, rat CUBN

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CUBN

    Clone
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    OriGene ORF clones in mouse, rat for CUBN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CUBN (NM_001081)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CUBN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CUBN

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CUBN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUBN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CUBN_HUMAN, O60494: Endosome membrane; Peripheral membrane protein (By similarity). Lysosome membrane;
    Peripheral membrane protein (By similarity). Note=Colocalizes with AMN and LRP2 in the endocytotic apparatus of
    epithelial cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    cytosol4
    extracellular3
    endoplasmic reticulum2
    golgi apparatus2

    Gene Ontology (GO): Selected cellular component terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IEA--
    GO:0005768endosome ----
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    CUBN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CUBN About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Lipoprotein metabolism
    Lipoprotein metabolism0.59
    HDL-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Vitamin D (calciferol) metabolism0.00
    5Vitamin digestion and absorption
    Vitamin digestion and absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 Reactome Pathways for CUBN
        Defective AMN causes hereditary megaloblastic anemia 1
    Cobalamin (Cbl, vitamin B12) transport and metabolism
    Vitamin D (calciferol) metabolism
    HDL-mediated lipid transport
    Defective CUBN causes hereditary megaloblastic anemia 1


    1 Kegg Pathway  (Kegg details for CUBN):
        Vitamin digestion and absorption


    CUBN for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CUBN: 
              WNT Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CUBN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for CUBN (O604943 ENSP000003670644) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    ENSG00000230336Q018603I2D: score=2 
    ENSG00000233911Q018603I2D: score=2 
    ENSG00000235068Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001894tissue homeostasis NAS11994745
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006898receptor-mediated endocytosis NAS11994745
    GO:0008202steroid metabolic process TAS--

    CUBN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CUBN

    4 HMDB Compounds for CUBN    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CobaltCo (see all 6)7440-48-4--
    IronArmco iron (see all 19)7439-89-6--

    2 DrugBank Compounds for CUBN    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9transportersubstrate15845892 16567952 15736970
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetother17139284 17016423 14585166

    Selected Novoseek inferred chemical compound relationships for CUBN gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cobalamin 86.3 36 10552972 (4), 9649473 (2), 7768365 (2), 7979409 (2) (see all 16)
    vitamin b12 74.5 15 19161160 (2), 9572993 (2), 10080186 (1), 10887099 (1) (see all 8)
    tunicamycin 43.3 3 7979409 (2)
    25-hydroxyvitamin d 42.4 1 17395559 (1)
    vitamin d 39.4 3 11717447 (1), 17023519 (1), 17395559 (1)
    folate 27.3 3 19161160 (2)
    calcitriol 26.3 1 18567755 (1)
    methionine 20.4 2 19586788 (1)
    cholesterol 18.6 7 15616221 (3), 18791690 (1), 10787174 (1), 15375181 (1)
    lipid 0 4 15457546 (1), 15891391 (1), 16027047 (1)



    CUBN for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CUBN gene: 
    NM_001081.3  

    Unigene Cluster for CUBN:

    Cubilin (intrinsic factor-cobalamin receptor)
    Hs.166206  [show with all ESTs]
    Unigene Representative Sequence: NM_001081
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377833(uc001ioo.3 uc009xjq.1 uc009xjr.1) ENST00000438254
    ENST00000433666 ENST00000377823

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CUBN:
    hsa-miR-205* hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidCUBN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CUBN
    Clone
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    GenScript: all cDNA clones in your preferred vector: CUBN (NM_001081)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CUBN
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CUBN
      QuantiTect SYBR Green Assays in human, mouse, rat CUBN
      QuantiFast Probe-based Assays in human, mouse, rat CUBN

    Additional mRNA sequence: 

    AB209880.1 AF034611.1 AK074536.1 AK075228.1 AK308290.1 AK309623.1 AK310404.1 

    8 DOTS entries:

    DT.103720  DT.91921050  DT.102831040  DT.40248507  DT.100016818  DT.121296949  DT.75150088  DT.95258986 

    Selected AceView cDNA sequences (see all 82):

    BF434554 AI744019 AI793020 BF197378 BM716637 AA975161 AI985277 AA999964 
    W80768 BQ130592 AF086456 AI222568 BX951704 AA495771 AI005054 BI762808 
    CA428216 AI922265 BG536099 BU600818 CD610502 CD610485 AW237502 BG430242 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CUBN (see all 6)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                                                                            

    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:                                                                                                                              


    ECgene alternative splicing isoforms for CUBN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CUBN expression in normal human tissues (normalized intensities)      CUBN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCCGTGGT
    CUBN Expression
    About this image


    CUBN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Floor Plate
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Kidney (Urinary System)
             Tubular cell-enriched subpopulation of renal cells
     
     Hypoblast (Extraembryonic Tissues)
             Visceral Endoderm Cells Visceral Endoderm
     
     Gonad
             XX Germ Cells Ovigerous Cord
    CUBN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CUBN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.166206

    UniProtKB/Swiss-Prot: CUBN_HUMAN, O60494
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including CUBN: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CUBN gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cubn1 , 5 cubilin (intrinsic factor-cobalamin receptor)1, 5 76.57(n)1
    70.06(a)1
      2 (9.86 cM)5
    659691  NM_001081084.21  NP_001074553.11 
     132763385 
    chicken
    (Gallus gallus)
    Aves CUBN1 cubilin (intrinsic factor-cobalamin receptor) 65.07(n)
    59.99(a)
      420523  XM_001235155.3  XP_001235156.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    55(a)
    1 → many
    6(18444457-18519384)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cubn1 cubilin (intrinsic factor-cobalamin receptor) 62.03(n)
    57.22(a)
      100125884  XM_002939005.2  XP_002939051.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cubn1 cubilin (intrinsic factor-cobalamin receptor) 58.58(n)
    53.76(a)
      100144772  XM_002666678.4  XP_002666724.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG327021 CG32702 42.66(n)
    31.71(a)
      326235  NM_167193.2  NP_727348.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZC116.31 ZC116.3 41.9(n)
    28.11(a)
      179729  NM_073756.5  NP_506157.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CUBN gene
    TLL22  CDCP22  PCOLCE2  BMP12  PCOLCE22  NETO22  MFRP2  NETO12  
    TLL12  
    Selected SIMAP similar genes for CUBN using alignment to 6 protein entries:     CUBN_HUMAN (see all proteins) (see all similar genes):
    DMBT1    DKFZp781F1053    CSMD1    C1S    BMP1    SEZ6L
    SCUBE2    CSMD2    TLL1    CSMD3    MFRP    SEZ6L2
    NRP2    F9    NOTCH3    SEZ6    MASP1    NOTCH2

    CUBN for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for CUBN
    PGOHUM00000238433 PGOHUM00000238447 PGOHUM00000238761


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CUBN (see all 7845)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs455518351,2,,4
    C,FA breast cancer sample4 --16840982(+) AGGACG/ACGGAG 2 /A /V mis14Minor allele frequency- A:0.01NS NA EU 5915
    VAR_0358294
    A breast cancer sample4--see VAR_0358292 H Q mis40--------
    VAR_0358304
    A colorectal cancer sample4--see VAR_0358302 A V mis40--------
    VAR_0358324
    A breast cancer sample4--see VAR_0358322 I V mis40--------
    rs289396991,2,4
    Recessive hereditary megaloblastic anemia 1 (RH-MGA1)4--see VAR_0252882 mis40--------
    rs1214344301,2
    Cpathogenic116991754(-) GTATCC/TGAATC 2 P L mis11Minor allele frequency- T:0.00NA 4550
    rs1384566801,2
    --16774058(+) GTTACA/GGCAAA 1 -- ds50010--------
    rs1838790291,2
    --16774115(+) TAGGGA/GCATGG 1 -- ds50010--------
    rs780813091,2
    C,F--16774136(+) ACACAG/AGTGAG 1 -- ds50011Minor allele frequency- A:0.04WA 118
    rs1885344921,2
    C--16774148(+) CTTGGA/GCCTGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CUBN (16865963 - 17115963 bp, first 250kb of CUBN)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CUBN (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677828CNV Deletion23128226
    nsv5943CNV Insertion18451855
    nsv520521CNV Loss19592680
    nsv5932CNV Loss18451855
    esv22833CNV Loss19812545
    nsv894911CNV Gain21882294
    esv21978CNV Gain19812545
    nsv470924CNV Gain18288195
    nsv466758CNV Gain19166990
    nsv894910CNV Gain21882294

    Human Gene Mutation Database (HGMD): CUBN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CUBN
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602997   
    OMIM disorders: 261100  
    UniProtKB/Swiss-Prot: CUBN_HUMAN, O60494
  • 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

  • Selected diseases for CUBN (see all 30):    About MalaCards
    megaloblastic anemia-1, finnish type    imerslund-grasbeck syndrome    megaloblastic anemia 1    megaloblastic anemia
    dent's disease    nephropathic cystinosis    cystinosis    vitamin b12 deficiency
    fanconi syndrome    holoprosencephaly    proteinuria    spina bifida
    nephrotic syndrome    cleft palate    cleft lip    colon adenocarcinoma
    coronary heart disease    cystic fibrosis    type 1 diabetes    myeloma

    4 diseases from the University of Copenhagen DISEASES database for CUBN:
    Megaloblastic anemia     Proteinuria     Fanconi syndrome     Vitamin B12 deficiency

    CUBN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for CUBN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    imerslund-grasbeck syndrome 94.8 6 9649473 (3), 10552972 (2), 10887099 (1)
    dent disease 88.3 1 18025833 (1)
    anemia megaloblastic 86.1 12 9572993 (2), 10080186 (1), 11169018 (1), 16047053 (1)
    proteinuria 69.9 18 12687456 (3), 10552972 (2), 12187318 (1), 15709971 (1) (see all 11)
    malabsorption 69.8 8 10552972 (2), 9584852 (1), 12687456 (1), 16567952 (1) (see all 5)
    renal disease 29.4 1 11195049 (1)
    myeloma 28.8 2 9691015 (1)

    Genetic Association Database (GAD): CUBN
    Human Genome Epidemiology (HuGE) Navigator: CUBN (11 documents)

    Export disorders for CUBN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CUBN gene, integrated from 10 sources (see all 155):
    (articles sorted by number of sources associating them with CUBN)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 9572993)1, 2, 3, 9 Kozyraki R.... Moestrup S.K. (Blood 1998)
    2. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. (PubMed id 14576052)1, 2, 9 Fyfe J.C.... Moestrup S.K. (Blood 2004)
    3. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4, 9 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    4. The intrinsic factor-vitamin B12 receptor, cubilin, is a high- affinity apolipoprotein A-I receptor facilitating endocytosis of high- density lipoprotein. (PubMed id 10371504)1, 2, 9 Kozyraki R.... Moestrup S.K. (Nat. Med. 1999)
    5. Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). (PubMed id 11717447)1, 2, 9 Nykjaer A.... Christensen E.I. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    6. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. (PubMed id 10080186)1, 2, 9 Aminoff M.... Krahe R. (Nat. Genet. 1999)
    7. Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia. (PubMed id 11606717)1, 2, 9 Kozyraki R.... Moestrup S.K. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    8. Composite organization of the cobalamin binding and cubilin recognition sites of intrinsic factor. (PubMed id 15736970)1, 7, 9 Fedosov S.N....Petersen T.E. (Biochemistry 2005)
    9. Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. (PubMed id 10887099)1, 2, 9 Kristiansen M.... Moestrup S.K. (Blood 2000)
    10. CUBN is a gene locus for albuminuria. (PubMed id 21355061)1, 4 BAPger C.A....Kao W.H. (J. Am. Soc. Nephrol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8029 HGNC: 2548 AceView: CUBN Ensembl:ENSG00000107611 euGenes: HUgn8029
    ECgene: CUBN Kegg: 8029 H-InvDB: CUBN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CUBN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CUBN[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CUBN gene:
    Search GeneIP for patents involving CUBN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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