Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CUBN (cubilin)

Identity

Alias (NCBI)IFCR
IGS
IGS1
MGA1
gp280
HGNC (Hugo) CUBN
HGNC Alias symbIFCR
gp280
HGNC Alias nameintrinsic factor-cobalamin receptor
HGNC Previous nameMGA1
HGNC Previous namecubilin (intrinsic factor-cobalamin receptor)
LocusID (NCBI) 8029
Atlas_Id 56699
Location 10p13  [Link to chromosome band 10p13]
Location_base_pair Starts at 16823966 and ends at 17129811 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATP5L (11q23.3) / CUBN (10p13)FLNA (Xq28) / CUBN (10p13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CUBN   2548
LRG (Locus Reference Genomic)LRG_540
Cards
Entrez_Gene (NCBI)CUBN    cubilin
AliasesIFCR; IGS; IGS1; MGA1; 
gp280
GeneCards (Weizmann)CUBN
Ensembl hg19 (Hinxton)ENSG00000107611 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107611 [Gene_View]  ENSG00000107611 [Sequence]  chr10:16823966-17129811 [Contig_View]  CUBN [Vega]
ICGC DataPortalENSG00000107611
TCGA cBioPortalCUBN
AceView (NCBI)CUBN
Genatlas (Paris)CUBN
SOURCE (Princeton)CUBN
Genetics Home Reference (NIH)CUBN
Genomic and cartography
GoldenPath hg38 (UCSC)CUBN  -     chr10:16823966-17129811 -  10p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CUBN  -     10p13   [Description]    (hg19-Feb_2009)
GoldenPathCUBN - 10p13 [CytoView hg19]  CUBN - 10p13 [CytoView hg38]
ImmunoBaseENSG00000107611
Genome Data Viewer NCBICUBN [Mapview hg19]  
OMIM261100   602997   618884   
Gene and transcription
Genbank (Entrez)AB209880 AF034611 AF086456 AK074536 AK075228
RefSeq transcript (Entrez)NM_001081
Consensus coding sequences : CCDS (NCBI)CUBN
Gene ExpressionCUBN [ NCBI-GEO ]   CUBN [ EBI - ARRAY_EXPRESS ]   CUBN [ SEEK ]   CUBN [ MEM ]
Gene Expression Viewer (FireBrowse)CUBN [ Firebrowse - Broad ]
GenevisibleExpression of CUBN in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8029
GTEX Portal (Tissue expression)CUBN
Human Protein AtlasENSG00000107611-CUBN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60494   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60494  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60494
PhosPhoSitePlusO60494
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CUB (PS01180)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)   
Domains : Interpro (EBI)CUB_dom    Cubilin    EGF-like_Ca-bd_dom    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    EGF_dom    Growth_fac_rcpt_cys_sf    Sperma_CUB_dom_sf   
Domain families : Pfam (Sanger)CUB (PF00431)    EGF (PF00008)    EGF_3 (PF12947)    EGF_CA (PF07645)   
Domain families : Pfam (NCBI)pfam00431    pfam00008    pfam12947    pfam07645   
Domain families : Smart (EMBL)CUB (SM00042)  EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)CUBN
PDB (RSDB)3KQ4    6GJE   
PDB Europe3KQ4    6GJE   
PDB (PDBSum)3KQ4    6GJE   
PDB (IMB)3KQ4    6GJE   
Structural Biology KnowledgeBase3KQ4    6GJE   
SCOP (Structural Classification of Proteins)3KQ4    6GJE   
CATH (Classification of proteins structures)3KQ4    6GJE   
SuperfamilyO60494
AlphaFold pdb e-kbO60494   
Human Protein Atlas [tissue]ENSG00000107611-CUBN [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O60494
IntAct (EBI)O60494
BioGRIDCUBN
STRING (EMBL)CUBN
ZODIACCUBN
Ontologies - Pathways
QuickGOO60494
Ontology : AmiGOtissue homeostasis  calcium ion binding  protein binding  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  plasma membrane  clathrin-coated pit  receptor-mediated endocytosis  cholesterol metabolic process  cobalamin metabolic process  response to bacterium  endosome membrane  cobalamin transport  membrane  apical plasma membrane  apical plasma membrane  endocytic vesicle  extrinsic component of external side of plasma membrane  cobalamin binding  brush border membrane  brush border membrane  high-density lipoprotein particle clearance  signaling receptor activity  cargo receptor activity  vitamin D metabolic process  protein homodimerization activity  lipoprotein transport  lysosomal lumen  receptor complex  extracellular exosome  extracellular exosome  
Ontology : EGO-EBItissue homeostasis  calcium ion binding  protein binding  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  plasma membrane  clathrin-coated pit  receptor-mediated endocytosis  cholesterol metabolic process  cobalamin metabolic process  response to bacterium  endosome membrane  cobalamin transport  membrane  apical plasma membrane  apical plasma membrane  endocytic vesicle  extrinsic component of external side of plasma membrane  cobalamin binding  brush border membrane  brush border membrane  high-density lipoprotein particle clearance  signaling receptor activity  cargo receptor activity  vitamin D metabolic process  protein homodimerization activity  lipoprotein transport  lysosomal lumen  receptor complex  extracellular exosome  extracellular exosome  
Pathways : KEGGVitamin digestion and absorption   
NDEx NetworkCUBN
Atlas of Cancer Signalling NetworkCUBN
Wikipedia pathwaysCUBN
Orthology - Evolution
OrthoDB8029
GeneTree (enSembl)ENSG00000107611
Phylogenetic Trees/Animal Genes : TreeFamCUBN
Homologs : HomoloGeneCUBN
Homology/Alignments : Family Browser (UCSC)CUBN
Gene fusions - Rearrangements
Fusion : QuiverCUBN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCUBN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CUBN
dbVarCUBN
ClinVarCUBN
MonarchCUBN
1000_GenomesCUBN 
Exome Variant ServerCUBN
GNOMAD BrowserENSG00000107611
Varsome BrowserCUBN
ACMGCUBN variants
VarityO60494
Genomic Variants (DGV)CUBN [DGVbeta]
DECIPHERCUBN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCUBN 
Mutations
ICGC Data PortalCUBN 
TCGA Data PortalCUBN 
Broad Tumor PortalCUBN
OASIS PortalCUBN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCUBN  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCUBN
Mutations and Diseases : HGMDCUBN
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCUBN
DgiDB (Drug Gene Interaction Database)CUBN
DoCM (Curated mutations)CUBN
CIViC (Clinical Interpretations of Variants in Cancer)CUBN
Cancer3DCUBN
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261100    602997    618884   
Orphanet
DisGeNETCUBN
MedgenCUBN
Genetic Testing Registry CUBN
NextProtO60494 [Medical]
GENETestsCUBN
Target ValidationCUBN
Huge Navigator CUBN [HugePedia]
ClinGenCUBN
Clinical trials, drugs, therapy
MyCancerGenomeCUBN
Protein Interactions : CTDCUBN
Pharm GKB GenePA27044
PharosO60494
Clinical trialCUBN
Miscellaneous
canSAR (ICR)CUBN
HarmonizomeCUBN
DataMed IndexCUBN
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCUBN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:05:41 CEST 2021

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