RBCC

KLKB1_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: KLKB1 , KLK3
Protein names and data: KLKB1_HUMAN , Plasma kallikrein; 3.4.21.34 , Fletcher factor; Kininogenin; Plasma prekallikrein; Plasma kallikrein heavy chain; Plasma kallikrein light chain; Flags: Precursor Lenght: 638 a.a.
Mass: 71370 Da
fasta formatted sequence
Function: The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin.
Catalytic activity: Cleaves selectively Arg-|-Xaa and Lys-|-Xaa bonds, including Lys-|-Arg and Arg-|-Ser bonds in (human) kininogen to release bradykinin.
Disease: ( OMIM: 229000 612423 ) Prekallikrein deficiency (PKK deficiency) [MIM:612423]: This disorder is a blood coagulation defect. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.

Genetic variants

123 - 123 G -> R (in PKK deficiency; reduces the binding activity of Apple domain 2 to HMW kininogen). VAR_054907
143 - 143 N -> S (in PKK deficiency; reduces the binding activity of Apple domain 2 to HMW kininogen; dbSNP:rs3733402). VAR_013598 3733402
178 - 178 A -> T (in dbSNP:rs4253257). VAR_016280 4253257
202 - 202 H -> Q (in dbSNP:rs4253373). VAR_013599 4253373
208 - 208 H -> P. VAR_013600
210 - 210 A -> E (in dbSNP:rs2278542). VAR_020180 2278542
269 - 269 S -> C (in dbSNP:rs4253376). VAR_016281 4253376
311 - 311 F -> V (in dbSNP:rs4253377). VAR_016282 4253377
358 - 358 T -> A (in dbSNP:rs4253379). VAR_016283 4253379
381 - 381 S -> A (in dbSNP:rs4253301). VAR_016284 4253301
442 - 442 Q -> P (in dbSNP:rs4253316). VAR_016285 4253316
548 - 548 C -> Y (in PKK deficiency). VAR_054908
560 - 560 R -> Q (in dbSNP:rs4253325). VAR_016286 4253325

Database cross-references

UniProt: P03952
Ensembl: ENST00000264690
MIM: 229000
MIM: 612423
neXtProt: NX_P03952
Antibodypedia: P03952 (may not find the protein thus also not any antibody)
Local full text data: click here

RBCC Red Blood Cell Collection

KLKB1_HUMAN

Genetic variants

Database cross-references

Users' comments