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CALB1 (calbindin 1)

Identity

Alias_namesCALB
calbindin 1, 28kDa
Other aliasD-28K
HGNC (Hugo) CALB1
LocusID (NCBI) 793
Atlas_Id 61384
Location 8q21.3  [Link to chromosome band 8q21]
Location_base_pair Starts at 90058608 and ends at 90082881 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)

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)CALB1   1434
Cards
Entrez_Gene (NCBI)CALB1  793  calbindin 1
AliasesCALB; D-28K
GeneCards (Weizmann)CALB1
Ensembl hg19 (Hinxton)ENSG00000104327 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104327 [Gene_View]  chr8:90058608-90082881 [Contig_View]  CALB1 [Vega]
ICGC DataPortalENSG00000104327
TCGA cBioPortalCALB1
AceView (NCBI)CALB1
Genatlas (Paris)CALB1
WikiGenes793
SOURCE (Princeton)CALB1
Genetics Home Reference (NIH)CALB1
Genomic and cartography
GoldenPath hg38 (UCSC)CALB1  -     chr8:90058608-90082881 -  8q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CALB1  -     8q21.3   [Description]    (hg19-Feb_2009)
EnsemblCALB1 - 8q21.3 [CytoView hg19]  CALB1 - 8q21.3 [CytoView hg38]
Mapping of homologs : NCBICALB1 [Mapview hg19]  CALB1 [Mapview hg38]
OMIM114050   
Gene and transcription
Genbank (Entrez)AK054881 AK295585 AK312491 AK315959 BC006478
RefSeq transcript (Entrez)NM_004929
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CALB1
Cluster EST : UnigeneHs.65425 [ NCBI ]
CGAP (NCI)Hs.65425
Alternative Splicing GalleryENSG00000104327
Gene ExpressionCALB1 [ NCBI-GEO ]   CALB1 [ EBI - ARRAY_EXPRESS ]   CALB1 [ SEEK ]   CALB1 [ MEM ]
Gene Expression Viewer (FireBrowse)CALB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)793
GTEX Portal (Tissue expression)CALB1
Human Protein AtlasENSG00000104327-CALB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05937   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05937  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05937
Splice isoforms : SwissVarP05937
PhosPhoSitePlusP05937
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Calbindin    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_6 (PF13405)    EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13405    pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)CALB1
DMDM Disease mutations793
Blocks (Seattle)CALB1
SuperfamilyP05937
Human Protein Atlas [tissue]ENSG00000104327-CALB1 [tissue]
Peptide AtlasP05937
HPRD00229
IPIIPI00220361   IPI00981886   IPI00982451   IPI00975762   IPI00976368   
Protein Interaction databases
DIP (DOE-UCLA)P05937
IntAct (EBI)P05937
FunCoupENSG00000104327
BioGRIDCALB1
STRING (EMBL)CALB1
ZODIACCALB1
Ontologies - Pathways
QuickGOP05937
Ontology : AmiGOvitamin D binding  calcium ion binding  protein binding  nucleus  cytosol  cytosol  short-term memory  long-term memory  locomotory behavior  zinc ion binding  retina layer formation  axon  axon  dendrite  metanephric part of ureteric bud development  neuronal cell body  terminal bouton  dendritic spine  cellular protein metabolic process  synapse  regulation of cytosolic calcium ion concentration  extracellular exosome  cellular response to organic substance  metanephric collecting duct development  metanephric distal convoluted tubule development  metanephric connecting tubule development  regulation of presynaptic cytosolic calcium ion concentration  regulation of long-term synaptic potentiation  
Ontology : EGO-EBIvitamin D binding  calcium ion binding  protein binding  nucleus  cytosol  cytosol  short-term memory  long-term memory  locomotory behavior  zinc ion binding  retina layer formation  axon  axon  dendrite  metanephric part of ureteric bud development  neuronal cell body  terminal bouton  dendritic spine  cellular protein metabolic process  synapse  regulation of cytosolic calcium ion concentration  extracellular exosome  cellular response to organic substance  metanephric collecting duct development  metanephric distal convoluted tubule development  metanephric connecting tubule development  regulation of presynaptic cytosolic calcium ion concentration  regulation of long-term synaptic potentiation  
Pathways : KEGGEndocrine and other factor-regulated calcium reabsorption   
NDEx NetworkCALB1
Atlas of Cancer Signalling NetworkCALB1
Wikipedia pathwaysCALB1
Orthology - Evolution
OrthoDB793
GeneTree (enSembl)ENSG00000104327
Phylogenetic Trees/Animal Genes : TreeFamCALB1
HOVERGENP05937
HOGENOMP05937
Homologs : HomoloGeneCALB1
Homology/Alignments : Family Browser (UCSC)CALB1
Gene fusions - Rearrangements
Tumor Fusion PortalCALB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCALB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CALB1
dbVarCALB1
ClinVarCALB1
1000_GenomesCALB1 
Exome Variant ServerCALB1
ExAC (Exome Aggregation Consortium)ENSG00000104327
GNOMAD BrowserENSG00000104327
Genetic variants : HAPMAP793
Genomic Variants (DGV)CALB1 [DGVbeta]
DECIPHERCALB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCALB1 
Mutations
ICGC Data PortalCALB1 
TCGA Data PortalCALB1 
Broad Tumor PortalCALB1
OASIS PortalCALB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCALB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCALB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CALB1
DgiDB (Drug Gene Interaction Database)CALB1
DoCM (Curated mutations)CALB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CALB1 (select a term)
intoGenCALB1
Cancer3DCALB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114050   
Orphanet
DisGeNETCALB1
MedgenCALB1
Genetic Testing Registry CALB1
NextProtP05937 [Medical]
TSGene793
GENETestsCALB1
Target ValidationCALB1
Huge Navigator CALB1 [HugePedia]
snp3D : Map Gene to Disease793
BioCentury BCIQCALB1
ClinGenCALB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD793
Chemical/Pharm GKB GenePA26026
Clinical trialCALB1
Miscellaneous
canSAR (ICR)CALB1 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCALB1
EVEXCALB1
GoPubMedCALB1
iHOPCALB1
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 : Tue Nov 21 13:17:57 CET 2017

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