Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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)
 Explore 29 diseases affiliated with
CUBN via our new
 Human Malady Compendium 
Biological research products
for CUBN
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cubilin (Intrinsic Factor-Cobalamin Receptor)1 2     460 KDa Receptor2 3
IFCR1 2 3 5     Cubilin1
MGA11 2 5     Cubilin Precursor Variant 12
Gp2801     Cubilin Precursor Variant 22
Intestinal Intrinsic Factor Receptor2 3     Intrinsic Factor-Cobalamin Receptor3
Intrinsic Factor-Vitamin B12 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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • The precursor is cleaved by a trans-Golgi proteinase furin. The result is a propeptide cleaved off1
  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60494

  • CUBN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001072.2  
    ENSEMBL proteins: 
     ENSP00000367064   ENSP00000391830   ENSP00000415970   ENSP00000367054  
    Reactome Protein details: O60494
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: CUBN
    OriGene Custom Protein Services for CUBN 
    GenScript Custom Purified and Recombinant Proteins Services for CUBN
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CUBN

    Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IEA--
    GO:0005768endosome ----
    GO:0005783endoplasmic reticulum IEA--


    CUBN for ontologies           About GeneDecksing



    CUBN Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CUBN (Cubilin)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CUBN 
    GenScript Custom Superior Antibodies Services for CUBN
    Search for Antibodies for CUBN at Abcam  
    Uscn Antibodies for CUBN
    Search ThermoFisher Antibodies for CUBN

    Assay Products for CUBN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CUBN
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CUBN


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CUBN for domains           About GeneDecksing

    5/8 InterPro domains/families (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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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)

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: CUBN
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CUBN
    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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CUBN (see all 4)
    OriGene shRNA RFP: CUBN
    OriGene siRNA: CUBN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CUBN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CUBN

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CUBN (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CUBN
    Search LifeMap BioReagents cell lines for CUBN

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUBN

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    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:0030492hemoglobin binding ----


    CUBN for ontologies           About GeneDecksing


    Animal Models:
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin D (calciferol) metabolism
    Vitamin D (calciferol) metabolism1.00
    Steroid hormones0.27
    Legumain degrades DBP0.43
    Metabolism of steroid hormones and vitamin D0.27
    2Lipoprotein metabolism
    Lipoprotein metabolism1.00
    Lipid digestion, mobilization, and transport0.56
    HDL-mediated lipid transport0.57
    3Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    4Endocytosis and degradation of apoA-I
    Endocytosis and degradation of apoA-I1.00
    5Vitamin digestion and absorption
    Vitamin digestion and absorption1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/10        Reactome Pathways for CUBN (see all 10)
        Endocytosis and degradation of apoA-I
    Metabolism
    Steroid hormones
    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)

    5/13 Interacting proteins for CUBN (O604943 ENSP000003670644) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LGALS3P179313, ENSP000002543014I2D: score=2 STRING: ENSP00000254301
    LRP2P981643, ENSP000002638164I2D: score=2 STRING: ENSP00000263816
    GIFP273523, ENSP000002572484I2D: score=2 STRING: ENSP00000257248
    ALBP027683, ENSP000002958974I2D: score=2 STRING: ENSP00000295897
    GCP027743, ENSP000002739514I2D: score=2 STRING: ENSP00000273951
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development ----
    GO:0001894tissue homeostasis NAS11994745
    GO:0006629lipid metabolic process TAS--
    GO:0006898receptor-mediated endocytosis NAS11994745
    GO:0007584response to nutrient ----


    CUBN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    Products:
         
    OriGene 3'-UTR Clone: CUBN
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CUBN
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CUBN (see all 4)
    OriGene shRNA RFP: CUBN
    OriGene siRNA: CUBN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CUBN
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CUBN (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CUBN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CUBN 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CUBN
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CUBN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CUBN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CUBN

    Additional cDNA 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):

    W80768 BF197378 AI744019 AI222568 BF434554 BQ130592 BM716637 AI793020 
    AF086456 AA999964 AA975161 AI985277 BU600818 AI858332 BG431842 AI005054 
    AW235082 CB047397 CD610482 AI245458 AI253182 AA495827 CD610485 AL698084 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACCCGTGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CUBN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
              WNT Signaling Targets in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CUBN
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CUBN
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CUBN
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CUBN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUBN

    (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 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 --
    --
    --
    58(a)
    54(a)
    possible ortholog
    possible ortholog
    6(18444457-18518967)
    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  
    18/39 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    C1QTNF5    CSMD3    LRP12
    MFRP    SEZ6L2    NOTCH2    NRP2    F9    SEZ6

    CUBN for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for CUBN
    PGOHUM00000238433 PGOHUM00000238447 PGOHUM00000238761


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/6435 NCBI SNPs in CUBN are shown (see all 6435    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214344301,2
    Cpathogenic44567492(-) GTATCC/TGAATC 2 P L mis11Minor allele frequency- T:0.00NA 4550
    rs780813091,2
    F,--16779340(+) ACACAG/AGTGAG 1 -- ds50011Minor allele frequency- A:0.04WA 118
    rs115970451,2
    C,A,H--16779537(+) atcccC/Tttata 1 -- ds50010--------
    rs796656011,2
    F,--16779683(+) AAAAAT/CTAAAC 1 -- ds50011Minor allele frequency- C:0.08WA 118
    rs455659311,2
    --16780207(+) TCAAAG/ATTTTT 1 -- ut311Minor allele frequency- A:0.03NS 38
    rs767423841,2
    --16780616(+) GCCTAT/CAAATA 1 -- ut311Minor allele frequency- C:0.00CSA 1
    rs1116447641,2
    C,--16780674(+) TCTCTG/TTGGCA 1 -- ut312Minor allele frequency- T:0.04CSA WA 119
    rs70968701,2
    C,F,A,H,--16780952(+) GTAACA/GAAGTA 1 -- int111Minor allele frequency- G:0.02NS EA NA WA 1210
    rs777165281,2
    C,--16781473(+) TTGGGG/AGGATA 1 -- int12Minor allele frequency- A:0.07WA 120
    rs61438011,2
    C,--16782090(+) ACAAA-/CATAT 
     TTACATG
    CATAT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for CUBN (16865963 - 17115963 bp, first 250kb of CUBN)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CUBN
         2 CNVs: 70926 65600
    Human Gene Mutation Database (HGMD): CUBN

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CUBN
    DNA2.0 Custom Variant and Variant Library Synthesis for CUBN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CUBN for disorders           About GeneDecksing

    OMIM gene information: 602997   
    OMIM disorders: 261100  
    UniProtKB/Swiss-Prot: CUBN_HUMAN, O60494
  • Defects in CUBN are a cause of recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]; also known
  • as MGA1 Norwegian type or Imerslund-Grasbeck syndrome (I-GS). RH-MGA1 is 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

    20/29 diseases for CUBN (see all 29):    About MalaCards
    megaloblastic anemia    megaloblastic anemia-1, finnish type    imerslund-grasbeck syndrome    anemia
    megaloblastic anemia 1    nephropathic cystinosis    dent disease    birth defects
    spina bifida    cystinosis    metastasis efficiency    coronary heart disease
    proteinuria    holoprosencephaly    cystic fibrosis    nephrotic syndrome
    fanconi syndrome    colon adenocarcinoma    myeloma    fibrosis

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

    7 Novoseek 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)

    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 146):
    (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. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. Structural basis for receptor recognition of vitamin- B(12)-intrinsic factor complexes. (PubMed id 20237569)1, 2 Andersen C.B....Andersen G.R. (2010)
    10. Identification of the ligands of protein interaction domains through a functional approach. (PubMed id 17124247)1, 2 Caratu G.... Zambrano N. (2007)

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for CUBN (Cubilin)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for CUBN  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CUBN   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CUBN  
     OriGene Protein Over-expression Lysate for CUBN   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CUBN   OriGene 3'-UTR Clone for CUBN  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CUBN   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CUBN  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CUBN   OriGene Custom Protein Services for CUBN  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CUBN
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CUBN
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CUBN
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CUBN
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CUBN
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CUBN
     GenScript Custom Purified and Recombinant Proteins Services for CUBN GenScript cDNA clones with any tag delivered in your preferred vector for CUBN
     GenScript Custom Assay Services for CUBN GenScript Custom Superior Antibodies Services for CUBN
     GenScript Custom overexpressing Cell Line Services for CUBN CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CUBN promoter
     Search Chromatin IP Primers for CUBN
     RT2 qPCR Primer Assay in human, mouse, rat CUBN
     GNC Network for CUBN
     SABiosciences PCR Arrays including human, mouse, rat CUBN
     Search Tocris compounds for CUBN
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Biologicals
     Novus Tissue Slides
     Search for Antibodies for CUBN at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CUBN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CUBN Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CUBN
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUBN
     SwitchGear 3'UTR luciferase reporter plasmids for CUBN
     SwitchGear Promoter luciferase reporter plasmids for CUBN
     Search ThermoFisher Antibodies for CUBN
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CUBN
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CUBN gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4