KLK1 (kallikrein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3816
Gene name Kallikrein 1
Gene symbol KLK1
Synonyms (NCBI Gene)
KLKRKlk6hK1
Chromosome 19
Chromosome location 19q13.33
Summary 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.
1
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 Transcription factors information provided by TRRUST V2 database.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147910 6357 ENSG00000167748
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (12)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARDIOMYOPATHIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (134)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 23639635
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 18227104
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 29707153
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26884824 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 26884824
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 31275448
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 27858843
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic aneurysm Pubtator 27858843 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 36470918 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 21571276
★★★★★
★☆☆☆☆
Found in Text Mining only