Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
KLK4 kallikrein related peptidase 4	ARM1 , EMSP , PSTS , AI2A1 , EMSP1 , KLK-L1 , PRSS17 , kallikrein	Homo sapiens	6	protein-coding	GZMK , GZMA , CFD , AZU1 , GZMM , PRSS57 , CMA1 , GZMH , CTSG , GZMB , KLK3 , KLK2 , KLK1 , KLK6 , KLK15 , KLK13 , KLK14 , KLK11 , KLK8 , KLK7 , KLK5 , KLK9 , KLK10 , PRSS37 , PRSS58 , KLK12		603767

Summary

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 of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]

GeneOntology

Function (1)

Go ID	Value	Evidence
0046872	enables metal ion binding	IEA

Component (2)

Go ID	Value	Evidence
0005576	located_in extracellular region	IEA
0030141	is_active_in secretory granule	IBA

Process (5)

Go ID	Value	Evidence
0097186	involved_in amelogenesis	IBA
0097186	involved_in amelogenesis	IMP
0031214	involved_in biomineral tissue development	IEA
0022617	involved_in extracellular matrix disassembly	IBA
0006508	involved_in proteolysis	NAS

Gene Loss events - KLK4 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_I0WN9Q	Balaena mysticetus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.celrep.2014.12.008