KLKB1 (kallikrein B1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3818
Gene name Kallikrein B1
Gene symbol KLKB1
Synonyms (NCBI Gene)
KLK3PKKPKKDPPK
Chromosome 4
Chromosome location 4q35.2
Summary 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.
6
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.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002542 Process Factor XII activation TAS 2510163
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity TAS 1993180
GO:0005515 Function Protein binding IPI 2844223, 32814053
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
229000 6371 ENSG00000164344
Protein Protein information from UniProt database.
Gene SNPs miRNA 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.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inherited prekallikrein deficiency Likely pathogenic; Pathogenic rs768319200, rs142420360, rs2476905568, rs1303557405, rs186254196, rs2477040195, rs771385385 RCV002467395
RCV002463563
RCV002467397
RCV002467472
RCV005411373
RCV003990383
RCV003991702
KLKB1-related disorder Likely pathogenic; Pathogenic rs768319200, rs2477042297 RCV003395482
RCV003408489
Prekallikrein deficiency Likely pathogenic; Pathogenic rs186254196, rs121964949, rs121964950, rs121964952 RCV000490524
RCV000012813
RCV000012814
RCV000012816
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Uncertain significance rs146650319 RCV001270604
Cervical cancer Benign; Likely benign rs13118347, rs4253379 RCV005917009
RCV005912059
Clear cell carcinoma of kidney Benign; Likely benign rs4253379 RCV005912060
Hepatocellular carcinoma Benign rs2292423 RCV005917281
Show/Hide Text Mining Associations (24)
Associations from Text MiningDisease associations identified through Pubtator
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