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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 imerslund-grasbeck syndrome, and megaloblastic anemia-1, finnish type, and among its related super-pathways are Lipoprotein metabolism and Metabolism of water-soluble vitamins and cofactors. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_008705.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CUBN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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)
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:

  • UniProtKB: The precursor is cleaved by a trans-Golgi proteinase furin. The result is a propeptide cleaved off
  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60494

  • CUBN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CUBN Protein Expression
    REFSEQ proteins: NP_001072.2  
    ENSEMBL proteins: 
     ENSP00000367064   ENSP00000391830   ENSP00000415970   ENSP00000367054  
    Reactome Protein details: O60494
    Human Recombinant Protein Products for CUBN: 
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    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CUBN 

    Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17):    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



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    Abcam antibodies for CUBN
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    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)
    About This Section
    5/8 InterPro protein domains (see all 8):
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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 ----
    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  homeostasis/metabolism  mortality/aging 
     renal/urinary system 

    CUBN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CUBN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    2 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CUBN (NM_001081)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUBN


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CUBN About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Lipoprotein metabolism
    Lipoprotein metabolism0.57
    Lipid digestion, mobilization, and transport0.56
    HDL-mediated lipid transport0.57
    2Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    3Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    5Vitamin D2 (ergocalciferol) metabolism
    Vitamin D (calciferol) metabolism0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/11        Reactome Pathways for CUBN (see all 11)
        Metabolism
    Steroid hormones
    Metabolism of vitamins and cofactors
    Vitamin D (calciferol) metabolism
    Lipid digestion, mobilization, and transport


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


    CUBN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CUBN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/19 Interacting proteins for CUBN (O604943 ENSP000003670644) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    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): 5/12 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CUBN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/13 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)

    Search CenterWatch for drugs/clinical trials and news about CUBN

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 QIAGEN miScript miRNA 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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    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 

    24/82 AceView cDNA sequences (see all 82):

    BF434554 AA999964 AF086456 AA975161 AI222568 AI793020 BF197378 AI985277 
    AI744019 BQ130592 BM716637 W80768 CD610494 BX090941 AA341460 BX491982 
    CD610484 AI922265 CD610482 AA495771 AI017258 AF034611 AI005054 CD610488 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/8 selected tissues (see all 8) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Floor Plate
     
     Kidney (Urinary System)
             Tubular cell-enriched subpopulation of renal cells
     
     Gonad
             XX Germ Cells Ovigerous Cord
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord

    See CUBN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CUBN

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CUBN gene from 6/14 species (see all 14)    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)
    59.96(a)
      420523  XM_001235155.2  XP_001235156.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    58(a)
    56(a)
    1 ↔ many
    1 ↔ many
    6(18444457-18519384)
    6(18373627-18434462)
    zebrafish
    (Danio rerio)
    Actinopterygii cubn1 cubilin (intrinsic factor-cobalamin receptor) 58.65(n)
    53.82(a)
      100144772  XM_002666678.3  XP_002666724.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG327021 CG32702 42.73(n)
    31.64(a)
      326235  NM_167193.2  NP_727348.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZC116.31 Protein ZC116.3 41.84(n)
    28.01(a)
      179729  NM_073756.4  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)
    About This Section
    Paralogs for CUBN gene
    TLL22  CDCP22  PCOLCE2  BMP12  PCOLCE22  NETO22  MFRP2  NETO12  
    TLL12  
    18/34 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7845 SNPs in CUBN are shown (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
    ----------
    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--------
    VAR_0252884
    Recessive hereditary megaloblastic anemia 1 (RH-MGA1)4--see VAR_0252882 P L mis40--------
    rs455518351,2,4
    C,FA breast cancer sample4 --16840982(+) AGGACG/ACGGAG 2 /A /V mis14Minor allele frequency- A:0.01NS NA EU 5915
    rs1214344301,2
    Cpathogenic116991754(-) GTATCC/TGAATC 2 P L mis11Minor allele frequency- T:0.00NA 4550
    VAR_0647044
    ----see VAR_0647042 S G mis40--------
    VAR_0252894
    ----see VAR_0252892 N Y mis40--------
    VAR_0252974
    ----see VAR_0252972 L I mis40--------
    rs1384566801,2
    --16774058(+) GTTACA/GGCAAA 1 -- ds50010--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 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
    SABiosciences Cancer Mutation PCR Assays
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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
    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

  • 20/26 diseases for CUBN (see all 26):    About MalaCards
    imerslund-grasbeck syndrome    megaloblastic anemia-1, finnish type    megaloblastic anemia    megaloblastic anemia 1
    dent's disease    nephropathic cystinosis    cystinosis    fanconi syndrome
    anemia    birth defects    proteinuria    holoprosencephaly
    spina bifida    nephrotic syndrome    colon adenocarcinoma    coronary heart disease
    cystic fibrosis    myeloma    type 1 diabetes    atherosclerosis

    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)
    About This Section

    PubMed articles for CUBN gene, integrated from 9 sources (see all 153):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (2000)
    10. CUBN is a gene locus for albuminuria. (PubMed id 21355061)1, 4 BAPger C.A....Kao W.H. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8029 HGNC: 2548 AceView: CUBN Ensembl:ENSG00000107611 euGenes: HUgn8029
    ECgene: CUBN Kegg: 8029 H-InvDB: CUBN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CUBN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CUBN

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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