PREPL - prolyl endopeptidase like Gene

Also Known as CMS22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9581

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 References Source
enables peptidase activity IMP
IMP: Inferred from mutant phenotype
28726805 GOA
Biological Process GO Annotation Evidence References 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_N: Prolyl oligopeptidase, N-terminal beta-propeller domain (128 - 426)

Peptidase_S9

Peptidase_S9: Prolyl oligopeptidase family (490 - 707)

  • 0
  • 200
  • 400
  • 600
  • 727 a.a.
Protein Preferred Names Protein Names

prolyl endopeptidase-like

  • putative prolyl oligopeptidase

PREPL Antibodies

Cat. No. Product Name Application Reactivity
HY-P83430 PPCEL Antibody (YA3175) WB, IHC-P, IP Human, Mouse, Rat, Hamster
HY-P83430A PPCEL Antibody (YA3175)(PBS only) WB, IHC-P, IP Human, Mouse, Rat, Hamster

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

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 Set / 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
Others PREPL NCBI