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FLASH GENE

Symbol

PREPL

contributors: mct - updated : 09-01-2024

HGNC name	prolyl endopeptidase-like
HGNC id	30228

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HCYS hypotonia-cystinuria syndrome PREPLDI PREPL deficiency isolated
Location	2p21      Physical location : 44.544.749 - 44.589.001
Genatlas name	related to moraxella proteinase 2, 72kDa
Synonym name	putative L-type neutral aminoacid transporter
	putative prolyl oligopeptidase
Synonym symbol(s)	FLJ16627, KIAA0436, CMS22
EC.number	3.4.21.-

DNA

TYPE	functioning gene
STRUCTURE	43.89 kb     15 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - LRPPRC - SLC3A1 - PREPL - C2orf34 - SIX3 - cen
Authors	Martens (2007)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001042385 13 - 5792 NP_001035844 - 665 - 2018 29483676 variant E NM_001042386 13 - 5780 NP_001035845 - 661 - 2018 29483676 variant D NM_001171603 15 - 6318 NP_001165074 - 727 - 2018 29483676 variant C1 NM_001171606 15 - 6371 NP_001165077 - 727 - 2018 29483676 NM_001171613 14 - 5829 NP_001165084 - 638 - 2018 29483676 NM_001171617 14 - 6064 NM_001171617 - 638 - 2018 29483676 NM_001374275 15 - 6046 NP_001361204 - 727 - 2018 29483676 NM_001374276 15 - 6083 NP_001361205 - 727 - 2018 29483676 NM_001374277 14 - 5792 NP_001361206 - 638 - 2018 29483676 NM_006036 14 - 6903 NP_006027 - 727 - 2018 29483676

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Nervous brain       highly Homo sapiens Urinary kidney       highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

monomer

HOMOLOGY

interspecies

homolog to moraxella proteinase 2

intraspecies	homolog to prolyl endopeptidase and oligopeptidase B
	homolog to PREP

Homologene

FAMILY	peptidase S9A family
	prolyl peptidase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus

basic FUNCTION	serine peptidase cleaving peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long
	may also have biological functions independent of its predicted peptidase activity
	PREPL specifically impacts Complex IV biogenesis by acting at the intersection of mitochondrial lipid metabolism and protein synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HCYS , PREPLDI

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Prepl(-/-) mice suffer from neonatal hypotonia