2. Gene
  3. PREPL - prolyl endopeptidase like Gene

PREPL - prolyl endopeptidase like Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

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

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 / 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