PREPL - prolyl endopeptidase like Gene

中文名称：脯氨酰内肽酶样

种属: Homo sapiens

同用名: CMS22

基因 ID: 9581 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于丝氨酸肽酶的脯氨酰寡肽酶亚家族。该基因的突变与肌张力减退-胱氨酸尿症综合征有关，也称为 2p21 缺失综合征。已针对该基因描述了几种编码相同或不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables peptidase activity	IMP IMP: 通过突变表型推断	28726805	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of synaptic vesicle exocytosis	IMP IMP: 通过突变表型推断	24610330	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PREPL 蛋白结构

Peptidase_S9_N

Peptidase_S9

0
200
400
600
727 a.a.

蛋白主名

其他名称

prolyl endopeptidase-like

putative prolyl oligopeptidase

PREPL 抗体

目录号	产品名	应用	反应物种
HY-P83430	PPCEL Antibody (YA3175)	WB, IHC-P, IP	Human, Mouse, Rat, Hamster

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11084	PREPL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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