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KEL (Kell blood group, metallo-endopeptidase)

Identity

Alias_namesKell blood group
Kell blood group, metalloendopeptidase
Alias_symbol (synonym)ECE3
CD238
Other alias
HGNC (Hugo) KEL
LocusID (NCBI) 3792
Atlas_Id 53653
Location 7q34  [Link to chromosome band 7q34]
Location_base_pair Starts at 142638201 and ends at 142659503 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TRPV6 (7q34) / KEL (7q34)TRPV6 7q34 / KEL 7q34

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)KEL   6308
LRG (Locus Reference Genomic)LRG_799
Cards
Entrez_Gene (NCBI)KEL  3792  Kell blood group, metallo-endopeptidase
AliasesCD238; ECE3
GeneCards (Weizmann)KEL
Ensembl hg19 (Hinxton)ENSG00000197993 [Gene_View]  chr7:142638201-142659503 [Contig_View]  KEL [Vega]
Ensembl hg38 (Hinxton)ENSG00000197993 [Gene_View]  chr7:142638201-142659503 [Contig_View]  KEL [Vega]
ICGC DataPortalENSG00000197993
TCGA cBioPortalKEL
AceView (NCBI)KEL
Genatlas (Paris)KEL
WikiGenes3792
SOURCE (Princeton)KEL
Genetics Home Reference (NIH)KEL
Genomic and cartography
GoldenPath hg19 (UCSC)KEL  -     chr7:142638201-142659503 -  7q34   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KEL  -     7q34   [Description]    (hg38-Dec_2013)
EnsemblKEL - 7q34 [CytoView hg19]  KEL - 7q34 [CytoView hg38]
Mapping of homologs : NCBIKEL [Mapview hg19]  KEL [Mapview hg38]
OMIM110900   613883   
Gene and transcription
Genbank (Entrez)AK314831 AW294875 BC003135 BC050639 DQ896776
RefSeq transcript (Entrez)NM_000420
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_007492 NT_007933 NT_187562 NW_004929333
Consensus coding sequences : CCDS (NCBI)KEL
Cluster EST : UnigeneHs.368588 [ NCBI ]
CGAP (NCI)Hs.368588
Alternative Splicing GalleryENSG00000197993
Gene ExpressionKEL [ NCBI-GEO ]   KEL [ EBI - ARRAY_EXPRESS ]   KEL [ SEEK ]   KEL [ MEM ]
Gene Expression Viewer (FireBrowse)KEL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3792
GTEX Portal (Tissue expression)KEL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23276   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23276  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23276
Splice isoforms : SwissVarP23276
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
PhosPhoSitePlusP23276
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)KEL    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)KEL
DMDM Disease mutations3792
Blocks (Seattle)KEL
SuperfamilyP23276
Human Protein AtlasENSG00000197993
Peptide AtlasP23276
HPRD00194
IPIIPI00220459   IPI00930561   IPI01009381   IPI00947335   IPI00945528   IPI00947168   
Protein Interaction databases
DIP (DOE-UCLA)P23276
IntAct (EBI)P23276
FunCoupENSG00000197993
BioGRIDKEL
STRING (EMBL)KEL
ZODIACKEL
Ontologies - Pathways
QuickGOP23276
Ontology : AmiGOmetalloendopeptidase activity  protein binding  plasma membrane  proteolysis  cellular calcium ion homeostasis  regulation of cell size  cellular magnesium ion homeostasis  integral component of membrane  regulation of axon diameter  vasoconstriction  myelination  metal ion binding  skeletal muscle fiber development  negative regulation of potassium ion transmembrane transport  
Ontology : EGO-EBImetalloendopeptidase activity  protein binding  plasma membrane  proteolysis  cellular calcium ion homeostasis  regulation of cell size  cellular magnesium ion homeostasis  integral component of membrane  regulation of axon diameter  vasoconstriction  myelination  metal ion binding  skeletal muscle fiber development  negative regulation of potassium ion transmembrane transport  
NDEx NetworkKEL
Atlas of Cancer Signalling NetworkKEL
Wikipedia pathwaysKEL
Orthology - Evolution
OrthoDB3792
GeneTree (enSembl)ENSG00000197993
Phylogenetic Trees/Animal Genes : TreeFamKEL
HOVERGENP23276
HOGENOMP23276
Homologs : HomoloGeneKEL
Homology/Alignments : Family Browser (UCSC)KEL
Gene fusions - Rearrangements
Fusion: TCGATRPV6 7q34 KEL 7q34 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKEL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KEL
dbVarKEL
ClinVarKEL
1000_GenomesKEL 
Exome Variant ServerKEL
ExAC (Exome Aggregation Consortium)KEL (select the gene name)
Genetic variants : HAPMAP3792
Genomic Variants (DGV)KEL [DGVbeta]
DECIPHER (Syndromes)7:142638201-142659503  ENSG00000197993
CONAN: Copy Number AnalysisKEL 
Mutations
ICGC Data PortalKEL 
TCGA Data PortalKEL 
Broad Tumor PortalKEL
OASIS PortalKEL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKEL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKEL
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 KEL
DgiDB (Drug Gene Interaction Database)KEL
DoCM (Curated mutations)KEL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KEL (select a term)
intoGenKEL
Cancer3DKEL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM110900    613883   
Orphanet
MedgenKEL
Genetic Testing Registry KEL
NextProtP23276 [Medical]
TSGene3792
GENETestsKEL
Huge Navigator KEL [HugePedia]
snp3D : Map Gene to Disease3792
BioCentury BCIQKEL
ClinGenKEL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3792
Chemical/Pharm GKB GenePA30087
Clinical trialKEL
Miscellaneous
canSAR (ICR)KEL (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKEL
EVEXKEL
GoPubMedKEL
iHOPKEL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:11:45 CET 2017

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