KLKB1 (kallikrein B1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3818
Gene name Gene Name - the full gene name approved by the HGNC.
Kallikrein B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLKB1
Synonyms (NCBI Gene) Gene synonyms aliases
KLK3, PKK, PKKD, PPK
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PKKD
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q35.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs3733402 G>A,C Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
rs121964949 C>T Pathogenic Coding sequence variant, upstream transcript variant, stop gained, genic upstream transcript variant, 5 prime UTR variant
rs121964950 G>A Pathogenic Stop gained, coding sequence variant
rs121964951 G>A Pathogenic, uncertain-significance Missense variant, coding sequence variant, intron variant
rs121964952 G>A,T Pathogenic Coding sequence variant, upstream transcript variant, stop gained, missense variant, genic upstream transcript variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT1099104 hsa-miR-3545-3p CLIP-seq
MIRT1099105 hsa-miR-4680-5p CLIP-seq
MIRT1099106 hsa-miR-510 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0002542 Process Factor XII activation TAS 2510163
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 2844223, 32814053
GO:0005576 Component Extracellular region NAS 14718574
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
229000 6371 ENSG00000164344
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P03952
Protein name Plasma kallikrein (EC 3.4.21.34) (Fletcher factor) (Kininogenin) (Plasma prekallikrein) (PKK) [Cleaved into: Plasma kallikrein heavy chain; Plasma kallikrein light chain]
Protein function Participates in the surface-dependent activation of blood coagulation. Activates, in a reciprocal reaction, coagulation factor XII/F12 after binding to negatively charged surfaces. Releases bradykinin from HMW kininogen and may also play a role
PDB 2ANW , 2ANY , 4OGX , 4OGY , 5F8T , 5F8X , 5F8Z , 5TJX , 6I44 , 6O1G , 6O1S , 6T7P , 7N7X , 7QOX , 8A3Q , 8FGX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00024 PAN_1 19 → 104 PAN domain Domain
PF00024 PAN_1 111 → 194 PAN domain Domain
PF00024 PAN_1 201 → 284 PAN domain Domain
PF00024 PAN_1 292 → 375 PAN domain Domain
PF00089 Trypsin 391 → 621 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Found in plasma (at protein level). {ECO:0000269|PubMed:14652634, ECO:0000269|PubMed:17598838}.
Sequence
Sequence length 638
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Complement and coagulation cascades   Intrinsic Pathway of Fibrin Clot Formation
Activation of Matrix Metalloproteinases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Bietti crystalline dystrophy BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY rs119103283, rs119103285, rs199476183, rs199476198, rs199476199, rs199476200, rs199476201, rs199476202, rs199476203, rs199476184, rs199476204, rs146494374, rs199476205, rs199476186, rs199476187
View all (16 more)
Prekallikrein deficiency Prekallikrein deficiency rs121964949, rs121964950, rs121964952, rs186254196 20301226, 11344577, 15461630, 14652634, 17598838, 12871337
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Prekallikrein Deficiency inherited prekallikrein deficiency GenCC
Show/Hide Text Mining Associations (24)
Associations from Text Mining
Disease Name Relationship Type References
Acute On Chronic Liver Failure Associate 30867825
Angioedemas Hereditary Associate 37992228, 38142864
Aortic Valve Calcification of Inhibit 40008515
Asthma Associate 24249636
Carcinoma Hepatocellular Associate 32443377, 34424809, 35035517, 39207047
Cleft Palate Associate 31204702
Cognition Disorders Associate 31204702
Creutzfeldt Jakob Syndrome Associate 25149502
DiGeorge Syndrome Associate 31204702
Hepatitis B Associate 30867825, 39207047