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KLK1 (kallikrein 1)
Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3816
Gene nameGene Name - the full gene name approved by the HGNC.
Kallikrein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KLK1
SynonymsGene synonyms aliases
KLKR, Klk6, hK1
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
SummarySummary of gene provided in NCBI Entrez Gene.
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs5515 C>T Affects Missense variant, coding sequence variant, 5 prime UTR variant
Transcription factors
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
AR Unknown 11532861
GATA3 Unknown 19232384
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003073 Process Regulation of systemic arterial blood pressure IBA 21873635
GO:0004252 Function Serine-type endopeptidase activity NAS 7749372
GO:0005634 Component Nucleus IDA 19232384
GO:0030141 Component Secretory granule IBA 21873635
GO:0031638 Process Zymogen activation IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P06870
Protein name Kallikrein-1 (EC 3.4.21.35) (Kidney/pancreas/salivary gland kallikrein) (Tissue kallikrein)
Protein function Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin.
PDB 1SPJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin
25 → 254
Trypsin
 Domain
Sequence
Sequence length 262
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Renin-angiotensin system
Endocrine and other factor-regulated calcium reabsorption 		  Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Associated diseases
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Myocardial infarction Myocardial Infarction rs12316150, rs41303970, rs909253, rs7291467, rs2234693 12411458
Hypertension Hypertensive disease rs13306026 14568997
Unknown
Disease name Disease term dbSNP ID References
Cirrhosis Cirrhosis rs119465999, rs144369314, rs8056684, rs112053857, rs75998507 18227104
Diabetic cardiomyopathy Diabetic Cardiomyopathies 16129698
Diabetic nephropathy Diabetic Nephropathy 19516248
Glomerulosclerosis Nodular glomerulosclerosis 19516248

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