ENSG00000197993


Homo sapiens

Features
Gene ID: ENSG00000197993
  
Biological name :KEL
  
Synonyms : KEL / Kell blood group, metallo-endopeptidase / P23276
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q34
Gene start: 142941114
Gene end: 142962681
  
Corresponding Affymetrix probe sets: 206077_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000347409
Ensembl peptide - ENSP00000420011
Ensembl peptide - ENSP00000419889
Ensembl peptide - ENSP00000418886
NCBI entrez gene - 3792     See in Manteia.
OMIM - 613883
RefSeq - XM_005249994
RefSeq - NM_000420
RefSeq - XM_005249993
RefSeq Peptide - NP_000411
swissprot - H0Y8A1
swissprot - E9PHG0
swissprot - P23276
swissprot - A0A077QP03
swissprot - E7ETW3
Ensembl - ENSG00000197993
  
Related genetic diseases (OMIM): 110900 - [Blood group, Kell], 110900
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kelENSDARG00000076950Danio rerio
 KELENSGALG00000014736Gallus gallus
 KelENSMUSG00000029866Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ECE1 / P42892 / endothelin converting enzyme 1ENSG0000011729830
ECE2 / O60344 / endothelin converting enzyme 2ENSG0000014519430
O60344 / EEF1AKMT4-ECE2 / EEF1AKMT4-ECE2 readthroughENSG0000028491730
ECEL1 / O95672 / endothelin converting enzyme like 1ENSG0000017155127
MMEL1 / Q495T6 / membrane metalloendopeptidase like 1ENSG0000014260627
PHEX / P78562 / phosphate regulating endopeptidase homolog X-linkedENSG0000010217423
MME / P08473 / membrane metalloendopeptidaseENSG0000019654923


Protein motifs (from Interpro)
Interpro ID Name
 IPR000718  Peptidase M13
 IPR008753  Peptidase M13, N-terminal domain
 IPR018497  Peptidase M13, C-terminal domain
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR029737  Kell blood group glycoprotein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0008361 regulation of cell size IEA
 biological_processGO:0010961 cellular magnesium ion homeostasis IEA
 biological_processGO:0031133 regulation of axon diameter IEA
 biological_processGO:0042310 vasoconstriction TAS
 biological_processGO:0042552 myelination IEA
 biological_processGO:0048741 skeletal muscle fiber development IEA
 biological_processGO:1901380 negative regulation of potassium ion transmembrane transport IEA
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124205 EDN3 / P14138 / endothelin 3  / reaction
 ENSG00000047597 XK / P51811 / X-linked Kx blood group  / complex






 

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