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  2. PGPEP1 - pyroglutamyl-peptidase I Gene

PGPEP1 - pyroglutamyl-peptidase I Gene

中文名称:焦谷氨酰肽酶 I

种属: Homo sapiens

同用名: PGI; PGP; Pcp; PGPI; PAP-I; PGP-I

基因 ID: 54858 | 基因类型: protein coding

关于 PGPEP1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,340,598-18,369,950 (from NCBI)

This gene has 9 transcripts (splice variants), 255 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 13.0), duodenum (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码半胱氨酸蛋白酶和肽酶 C15 蛋白家族的成员。编码的蛋白质从蛋白质底物 (包括促甲状腺激素释放激素和其他神经肽) 上切割氨基末端焦谷氨酸残基。该基因的表达可能在结直肠癌中下调,而编码蛋白的活性可能与结直肠癌患者的癌症进展呈负相关。编码的蛋白酶的活性也可能在其他疾病状态下发生改变,包括与蛋白酶活性降低相关的肝硬化和与蛋白酶活性升高相关的坏死精子症。[RefSeq 提供,2016 年 7 月]

The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and Other neuropeptides. Expression of this gene may be downregulated in colorectal Cancer, while activity of the encoded protein may be negatively correlated with Cancer progression in colorectal Cancer patients. Activity of the encoded protease may also be altered in Other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]

PGPEP1 基因产物(7)

mRNA Protein Name
NM_001300927.2 NP_001287856.1 pyroglutamyl-peptidase 1 isoform 2
NM_001308366.2 NP_001295295.1 pyroglutamyl-peptidase 1 isoform 3
NM_001329471.2 NP_001316400.1 pyroglutamyl-peptidase 1 isoform 4
NM_001329476.2 NP_001316405.1 pyroglutamyl-peptidase 1 isoform 6
NM_001329477.2 NP_001316406.1 pyroglutamyl-peptidase 1 isoform 7
NM_001329478.2 NP_001316407.1 pyroglutamyl-peptidase 1 isoform 7
NM_017712.4 NP_060182.1 pyroglutamyl-peptidase 1 isoform 1

PGPEP1 蛋白结构

Peptidase_C15

Peptidase_C15: Pyroglutamyl peptidase (7 - 172)

  • 0
  • 100
  • 209 a.a.
蛋白主名 其他名称

pyroglutamyl-peptidase 1

5-oxoprolyl-peptidase

关联疾病

疾病名称 别名
Olecranon Bursitis

Bursitis Of Elbow

Bursitis Of Elbow Region

Capped Elbow

Elbow Bursitis

Miner'S Elbow

Miners' Elbow

Shoe Boil

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9

Left Ventricular Noncompaction 5

Dilated Cardiomyopathy 1e

Dilated Cardiomyopathy 1s

CMD1E

Cdcd2

Cardiomyopathy, Dilated, 1y

CMD1Y

Cardiomyopathy, Dilated, 1s

CMD1S

Dilated Cardiomyopathy 1y

Dilated Cardiomyopathy With Conduction Defect 2

Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Defect 2

Cardiomyopathy Dilated With Conduction Defect Type 2

Cardiomyopathy, Dilated 1e

Cardiomyopathy, Dilated 1s

Cardiomyopathy, Dilated 1y

Left Ventricular Non-Compaction 5

LVNC5

Left Ventricular Non-Compaction 9

LVNC9

Cardiomyopathy, Dilated, Type 1e

Cardiomyopathy, Dilated, Type 1s

Cardiomyopathy, Dilated, Type 1y

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus PGPEP1 MGD MGI:1913772
Bos taurus PGPEP1 VGNC VGNC:32799
Canis familiaris PGPEP1 VGNC VGNC:44467
Rattus norvegicus PGPEP1 RGD RGD:1303133
Felis catus PGPEP1 VGNC VGNC:102661
Macaca mulatta PGPEP1 VGNC VGNC:75797