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 name Gene Name - the full gene name approved by the HGNC.
Kallikrein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLK1
Synonyms (NCBI Gene) Gene synonyms aliases
KLKR, Klk6, hK1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
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
Show/Hide all(2)
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
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0003073 Process Regulation of systemic arterial blood pressure IBA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity NAS 7749372
GO:0004252 Function Serine-type endopeptidase activity TAS 2686621
Other IDs Other 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
147910 6357 ENSG00000167748
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.; (Microbial infection) Cleaves Neisseria meningitidis NHBA in saliva; Neisseria is an obligate commensal of the nasopharyngeal mucosa. {ECO:
PDB 1SPJ , 8YGY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 25 → 254 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is expressed in pancreas, salivary glands, kidney, colon, prostate gland, testis, spleen and the colon adenocarcinoma cell line T84. {ECO:0000269|PubMed:7749372}.
Sequence
Sequence length 262
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pulmonary arterial hypertension pulmonary arterial hypertension N/A N/A GenCC
Show/Hide Text Mining Associations (52)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 15086490, 21679467, 23635481
Adenocarcinoma Associate 32592124
Adenoma Oxyphilic Associate 20926528
Adenoma Pleomorphic Associate 30120721
Alzheimer Disease Associate 26884824
Aortic Aneurysm Associate 27858843
Aortic Aneurysm Abdominal Associate 36470918
Asthma Associate 16424381
Atherosclerosis Associate 27858843
Bronchitis Chronic Associate 16424381