PREPL - prolyl endopeptidase like Gene

Homo sapiens

Also known as CMS22

Gene ID: 9581 | Gene type: protein coding

About PREPL

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:44,317,607-44,361,862 (from NCBI)

This gene has 16 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 6 phenotypes. Broad expression in brain (RPKM 66.6), kidney (RPKM 33.1) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]

PREPL Products(10)

mRNA	Protein	Name
NM_001042385.2	NP_001035844.1	prolyl endopeptidase-like isoform 2
NM_001042386.2	NP_001035845.1	prolyl endopeptidase-like isoform 3
NM_001171603.1	NP_001165074.1	prolyl endopeptidase-like isoform 1
NM_001171606.2	NP_001165077.1	prolyl endopeptidase-like isoform 1
NM_001171613.2	NP_001165084.1	prolyl endopeptidase-like isoform 4
NM_001171617.1	NP_001165088.1	prolyl endopeptidase-like isoform 4
NM_001374275.1	NP_001361204.1	prolyl endopeptidase-like isoform 1
NM_001374276.1	NP_001361205.1	prolyl endopeptidase-like isoform 1
NM_001374277.1	NP_001361206.1	prolyl endopeptidase-like isoform 4
NM_006036.4	NP_006027.2	prolyl endopeptidase-like isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables peptidase activity	IMP IMP: Inferred from mutant phenotype	28726805	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of synaptic vesicle exocytosis	IMP IMP: Inferred from mutant phenotype	24610330	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PREPL Protein Structure

Peptidase_S9_N

Peptidase_S9

0
200
400
600
727 a.a.

Protein Preferred Names

Protein Names

prolyl endopeptidase-like

putative prolyl oligopeptidase

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 22

CMS22	Prepl Deficiency
Congenital Myasthenic Syndrome 22

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

2p21 Microdeletion Syndrome Without Cystinuria

Del(2)(P21) Without Cystinuria

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Hypotonia

Developmental And Epileptic Encephalopathy 47

DEE47	Epileptic Encephalopathy, Early Infantile, 47
Eiee47	Developmental And Epileptic Encephalopathy, 47
Early Infantile Epileptic Encephalopathy 47

Ureteral Disease

Ureteral Diseases	Ureteral Disorders
Disorder Of Ureter

Epidermolysis Bullosa Simplex 5a, Ogna Type

Epidermolysis Bullosa Simplex, Ogna Type	EBS5A
Ebsog	Epidermolysis Bullosa Simplex Ogna Type
Ebs-Og	Ebs-O
Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement	Plec-Related Intermediate Ebs Without Extracutaneous Involvement
Ebs1	Ebso
Epidermolysis Bullosa Simplex 1	O-Ebs
Simplex Epidermolysis Bullosa_ogna Type

Joubert Syndrome 4

JBTS4	Joubert Syndrome With Renal Defect
Joubert Syndrome With Renal Anomalies	Js-R
Joubert Syndrome, Type 4

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Animal Phobia

Zoophobia

Fear Of Animals

Chromosomal Deletion Syndrome

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11084	PREPL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PREPL	VGNC	VGNC:44961
Rattus norvegicus	PREPL	RGD	RGD:1310143
Mus musculus	PREPL	MGD	MGI:2441932
Macaca mulatta	PREPL	VGNC	VGNC:76346
Bos taurus	PREPL	VGNC	VGNC:33311
Felis catus	PREPL	VGNC	VGNC:64350

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