• Gene id: 3816

Gene Summary

• Gene Symbol: KLK1   Gene   UCSC   Ensembl
• Aliases: KLKR, Klk6, hK1
• Gene name: kallikrein 1
• Alternate names: kallikrein-1, glandular kallikrein 1, kallikrein 1, renal/pancreas/salivary, kallikrein serine protease 1, kidney/pancreas/salivary gland kallikrein, tissue kallikrein,
• Gene location: 19q13.33 (50823786: 50819145)     Exons: 6     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 603626

Protein Summary

• Protein general information: P06870  
  • Name: Kallikrein 1 (EC 3.4.21.35) (Kidney/pancreas/salivary gland kallikrein) (Tissue kallikrein)
  • Length: 262  
  • Mass: 28890
  • Tissue specificity: Isoform 2 is expressed in pancreas, salivary glands, kidney, colon, prostate gland, testis, spleen and the colon adenocarcinoma cell line T84. {ECO
• Sequence:

  MWFLVLCLALSLGGTGAAPPIQSRIVGGWECEQHSQPWQAALYHFSTFQCGGILVHRQWVLTAAHCISDNYQLWL
  GRHNLFDDENTAQFVHVSESFPHPGFNMSLLENHTRQADEDYSHDLMLLRLTEPADTITDAVKVVELPTEEPEVG
  STCLASGWGSIEPENFSFPDDLQCVDLKILPNDECKKAHVQKVTDFMLCVGHLEGGKDTCVGDSGGPLMCDGVLQ
  GVTSWGYVPCGTPNKPSVAVRVLSYVKWIEDTIAENS

• Structural information:
  • Protein Domains: (25..25-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • PDB: 1SPJ
  • PDBsum: 1SPJ
  • STRING: ENSP00000301420
• Other Databases: GeneCards:  KLK1  Malacards:  KLK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030141	secretory granule	IBA	cellular component
GO:0031638	zymogen activation	IBA	biological process
GO:0003073	regulation of systemic arterial blood pressure	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0004252	serine-type endopeptidase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04614	Renin-angiotensin system

Diseases

Associated diseases	References
Cardiomyopathy	PMID:15117887
Hypertension	PMID:17272402
Myocardial infarction	PMID:17022964
Chronic kidney disease	PMID:15086490
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq