2. Gene
  3. POMP - proteasome maturation protein Gene

POMP - proteasome maturation protein Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：蛋白酶体成熟蛋白

种属: Homo sapiens

同用名: UMP1; PRAAS2; HSPC014; C13orf12; PNAS-110

基因 ID: 51371 | 基因类型: protein coding

关于 POMP

Cytogenetic location: 13q12.3 Genomic coordinates (GRCh38): 13:28,659,130-28,678,959 (from NCBI)

This gene has 12 transcripts (splice variants), 285 orthologues and is associated with 4 phenotypes. Ubiquitous expression in placenta (RPKM 45.6), colon (RPKM 36.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是结合 20S 前蛋白酶体成分的分子伴侣，对 20S 蛋白酶体的形成至关重要。 20S 蛋白酶体是 26S 蛋白酶体复合物的蛋白水解活性成分。编码的蛋白质在 20S 蛋白酶体成熟之前被降解。该基因 5' UTR 的变异与 KLICK 综合征 (一种罕见的皮肤病) 有关。[RefSeq 提供，2010 年 8 月]

The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S Proteasome formation. The 20S Proteasome is the proteolytically active component of the 26S Proteasome complex. The encoded protein is degraded before the maturation of the 20S Proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]

POMP 基因产物(1)

mRNA Protein Name
NM_015932.6 NP_057016.1 proteasome maturation protein
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 protein binding IPI
IPI: 通过物理相互作用推断
14733938 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteasome assembly IMP
IMP: 通过突变表型推断
17948026 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

POMP 蛋白结构

UMP1

UMP1: Proteasome maturation factor UMP1 (14 - 140)

  • 0
  • 100
  • 141 a.a.
蛋白主名 其他名称

proteasome maturation protein

2510048O06Rik

POMP 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra POMP Q9Y244 PSMB6 Homo sapiens P28072
Y2H
17948026
Intra POMP Q9Y244 PSMB2 Homo sapiens P49721
Y2H
17948026
Intra POMP Q9Y244 PSMB1 Homo sapiens P20618
Y2H
14733938
Intra POMP Q9Y244 PSMB1 Homo sapiens P20618
Y2H
17948026
Intra POMP Q9Y244 PSMB7 Homo sapiens Q99436
Y2H
14733938
Intra POMP Q9Y244 PSMB3 Homo sapiens P49720
MAPPIT
25416956
Intra POMP Q9Y244 PSMB4 Homo sapiens P28070
Y2H
17948026
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma

Klick Syndrome

Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome

KLICK

Klick Genodermatosis
Proteasome-Associated Autoinflammatory Syndrome 2

PRAAS2
Proteasome-Associated Autoinflammatory Syndrome

Aldd Syndrome

Autoinflammation-Lipodystrophy-Dermatosis Syndrome

Praas

Proteasome Disability Syndrome
Atrophoderma Vermiculata

Atrophoderma Vermiculatum

Folliculitis Ulerythematosa Reticulata

Atrophodermia Vermiculata

Honeycomb Atrophy

Atrophodermia Reticulata Symmetrica Faciei

AVA

Atrophodermia Reticulata

Folliculitis Ulerythematosa

Folliculitis Ulerythematosa Reticulate

Burnett Schwartz Berberian Syndrome
Keratosis

Actinic Keratosis

Hyperkeratosis
Nodular Episcleritis
Familial Cold Autoinflammatory Syndrome 4

FCAS4

Nlrc4-Related Familial Cold Autoinflammatory Syndrome

Nlrc4-Related Familial Cold Urticaria

Autoinflammatory, Cold, Familial, Syndrome, Type 4
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10869 POMP Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus POMP VGNC VGNC:33157
Macaca mulatta POMP VGNC VGNC:106285
Rattus norvegicus POMP RGD RGD:1305831
Mus musculus POMP MGD MGI:1913787
Felis catus POMP VGNC VGNC:102290
Others POMP NCBI
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z