KLKB1 (kallikrein B1)

2003-05-01  

Identity

HGNC
KLKB1
LOCATION
4q35.2
LOCUSID
3818
ALIAS
KLK3,PKK,PKKD,PPK

Other Information

Locus ID:

NCBI: 3818
MIM: 229000
HGNC: 6371
Ensembl: ENSG00000164344

Variants:

dbSNP: 3818
ClinVar: 3818
TCGA: ENSG00000164344
COSMIC: KLKB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164344ENST00000264690P03952
ENSG00000164344ENST00000428196C9J075
ENSG00000164344ENST00000446598C9JCT1
ENSG00000164344ENST00000511608H0YAC1
ENSG00000164344ENST00000513864E9PBC5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
HemostasisREACTOMER-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Activation of Matrix MetalloproteinasesREACTOMER-HSA-1592389

References

Pubmed IDYearTitleCitations
382949752024CRISPR-Cas9 In Vivo Gene Editing of KLKB1 for Hereditary Angioedema.4
382949752024CRISPR-Cas9 In Vivo Gene Editing of KLKB1 for Hereditary Angioedema.4
368126562023KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study.1
368126562023KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study.1
345329762022Kallikrein augments the anticoagulant function of the protein C system in thrombin generation.3
361004022022[Matrix metalloproteinase 14 and plasma kallikrein 1 may be potential biomarkers in the diagnosis and treatment of sepsis: a proteomics and bioinformatics analysis].0
345329762022Kallikrein augments the anticoagulant function of the protein C system in thrombin generation.3
361004022022[Matrix metalloproteinase 14 and plasma kallikrein 1 may be potential biomarkers in the diagnosis and treatment of sepsis: a proteomics and bioinformatics analysis].0
330734602021c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans.3
330734602021c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans.3
322020572020Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.14
322020572020Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.14
308172302019IONIS-PKK(Rx) a Novel Antisense Inhibitor of Prekallikrein and Bradykinin Production.10
314734032019Prospective study of plasma high molecular weight kininogen and prekallikrein and incidence of coronary heart disease, ischemic stroke and heart failure.3
308172302019IONIS-PKK(Rx) a Novel Antisense Inhibitor of Prekallikrein and Bradykinin Production.10

Citation

Dessen P

KLKB1 (kallikrein B1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41089/meetings/haematological-explorer/js/template.js