CUBN Gene
protein-coding GIFtS : 60
GCID: GC10 M016906
cubilin (intrinsic factor-cobalamin receptor) (Previous symbol: MGA1 )
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Aliasesfor CUBN gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )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
Export aliases for CUBN gene to outside databases Previous GC identifers: GC10M016848 GC10M017016 GC10M016870
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Summariesfor CUBN gene (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)
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Genomic Viewsfor CUBN 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 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 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) 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
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Proteinsfor CUBN gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 complexcomposed 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; Peripheralmembrane 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 Q96RU9Explore 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 PhosphoSitePlus 2 View neXtProt modification sites for NX_O60494 CUBN Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_001072.2 ENSEMBL proteins: ENSP00000367064 ENSP00000391830 ENSP00000415970 ENSP00000367054 Reactome Protein details: O60494 Human Recombinant Protein Products: Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20 ): About this table
CUBN for ontologies About GeneDecksing CUBN Antibody Products: Assay Products for CUBN:
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Protein
Domains / Familiesfor CUBN gene (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 ):
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 LRP2Similarity : Contains 27 CUB domainsSimilarity : Contains 7 EGF-like domains
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Functionfor CUBN gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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) 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 CUBNOriGene 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
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
CUBN for ontologies About GeneDecksing Animal Models: 6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Cubn) :
CUBN for phenotypes About GeneDecksing
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Pathways & Interactionsfor CUBN gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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-pathway contained gene-specific pathways 1 Vitamin D (calciferol) metabolism 2 Lipoprotein metabolism 3 Metabolism 4 Endocytosis and degradation of apoA-I 5 Vitamin digestion and absorption
Pathway sources See GeneCards unified pathways Show all pathways 5/10
Reactome Pathways for CUBN (see all 10 )1
Kegg Pathway (Kegg details for CUBN) :
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 (O60494 3 ENSP00000367064 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 13 )About this table Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14 ): About this table
CUBN for ontologies About GeneDecksing
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Drugs & Compoundsfor CUBN gene (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 Tocris compounds for CUBN 4 HMDB Compounds for CUBN About this table 2 DrugBank Compounds for CUBN About this table 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
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Transcriptsfor CUBN gene (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 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 CUBNOriGene 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
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
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Expression for CUBN gene
(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 image BioGPS CGAP TAG: CACCCGTGGT
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
Cell Category (developmental path) Heart Cardiac Crescent Cardiac Crescent Cells Myocardium Expression: Positive Negative
Selective markerExperimental 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 absorptiveintestinal cells. Expressed in the epithelium of intestine and kidney SABiosciences Expression via Pathway-Focused PCR Array including CUBN : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CUBNBrowse 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
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Orthologsfor CUBN gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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
ENSEMBL Gene Tree for CUBN (if available)TreeFam Gene Tree for CUBN (if available)
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Paralogsfor CUBN gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CUBN gene TLL2 2 CDCP2 2 PCOLCE 2 BMP1 2 PCOLCE2 2 NETO2 2 MFRP 2 NETO1 2 TLL1 2 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
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Genomic Variantsfor CUBN gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 10 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
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
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Disorders
/ Diseasesfor CUBN gene
(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
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Publicationsfor CUBN gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
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
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) 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) 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) 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) 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) 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) 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) 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) Structural basis for receptor recognition of vitamin- B(12)-intrinsic factor complexes. (PubMed id 20237569) 1 , 2 Andersen C.B....Andersen G.R. (2010) Identification of the ligands of protein interaction domains through a functional approach. (PubMed id 17124247) 1 , 2 Caratu G.... Zambrano N. (2007)
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Genome Databases showing CUBN gene
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and/or
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Specialized Databases showing CUBN gene (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
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PharmGKB entry for CUBN Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CUBN
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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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Productsfor CUBN gene (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
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,
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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
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CUBN Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUBN
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