ENSG00000167749


Homo sapiens

Features
Gene ID: ENSG00000167749
  
Biological name :KLK4
  
Synonyms : kallikrein related peptidase 4 / KLK4 / Q9Y5K2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.41
Gene start: 50906352
Gene end: 50910738
  
Corresponding Affymetrix probe sets: 1555697_at (Human Genome U133 Plus 2.0 Array)   1555737_a_at (Human Genome U133 Plus 2.0 Array)   224062_x_at (Human Genome U133 Plus 2.0 Array)   231782_s_at (Human Genome U133 Plus 2.0 Array)   233854_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000326159
Ensembl peptide - ENSP00000469769
Ensembl peptide - ENSP00000469963
Ensembl peptide - ENSP00000472091
Ensembl peptide - ENSP00000399448
NCBI entrez gene - 9622     See in Manteia.
OMIM - 603767
RefSeq - XM_011527546
RefSeq - NM_001302961
RefSeq - NM_004917
RefSeq - XM_005259441
RefSeq - XM_011527545
RefSeq Peptide - NP_004908
RefSeq Peptide - NP_001289890
swissprot - Q5BQA0
swissprot - M0QYN5
swissprot - Q9Y5K2
swissprot - A0A0C4DFQ5
Ensembl - ENSG00000167749
  
Related genetic diseases (OMIM): 204700 - Amelogenesis imperfecta, type IIA1, 204700
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
 ENSGALG00000034771Gallus gallus
 Klk4ENSMUSG00000006948Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLK5 / Q9Y337 / kallikrein related peptidase 5ENSG0000016775449
KLK7 / P49862 / kallikrein related peptidase 7ENSG0000016903541
KLK12 / Q9UKR0 / kallikrein related peptidase 12ENSG0000018647438
KLK10 / O43240 / kallikrein related peptidase 10ENSG0000012945132


Protein motifs (from Interpro)
Interpro ID Name
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR009003  Peptidase S1, PA clan
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR033116  Serine proteases, trypsin family, serine active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis NAS
 biological_processGO:0022617 extracellular matrix disassembly IEA
 biological_processGO:0030163 protein catabolic process IEA
 biological_processGO:0031214 biomineral tissue development IEA
 biological_processGO:0097186 amelogenesis IMP
 cellular_componentGO:0005576 extracellular region TAS
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000670 Carious teeth 
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 HP:0000705 Amelogenesis imperfecta 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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