1. Gene
  2. HERPUD1 - homocysteine inducible ER protein with ubiquitin like domain 1 Gene

HERPUD1 - homocysteine inducible ER protein with ubiquitin like domain 1 Gene

中文名称:具有泛素样结构域 1 的同型半胱氨酸诱导型 ER 蛋白

种属: Homo sapiens

同用名: SUP; HERP; Mif1

基因 ID: 9709 | 基因类型: protein coding

关于 HERPUD1

Cytogenetic location: 16q13 Genomic coordinates (GRCh38): 16:56,932,142-56,944,864 (from NCBI)

This gene has 19 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 51 phenotypes. Ubiquitous expression in thyroid (RPKM 145.7), prostate (RPKM 120.9) and 25 other tissues.

功能概要

未折叠蛋白在内质网 (ER) 中的积累会触发 ER 应激反应。这种反应包括抑制翻译以防止未折叠蛋白质的进一步积累、参与多肽折叠的蛋白质表达增加,称为未折叠蛋白质反应 (UPR) ,以及通过 ER 相关蛋白质降解 (ERAD) 破坏错误折叠的蛋白质) 系统。该基因可能在 UPR 和 ERAD 中发挥作用。它的表达是由 UPR 诱导的,在其启动子区域有一个内质网应激反应元件,而编码的蛋白质有一个 N 端泛素样结构域,可以与 ERAD 系统相互作用。这种蛋白质已被证明与早老素蛋白质相互作用,并在其过度表达后增加淀粉样蛋白-β 的水平。该基因的可变剪接产生编码不同亚型的多个转录变体。所有转录变体的全长性质尚未确定。[RefSeq 提供,2013 年 1 月]

The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]

HERPUD1 基因产物(3)

mRNA Protein Name
NM_001010989.3 NP_001010989.1 homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 2
NM_001272103.2 NP_001259032.1 homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 4
NM_014685.4 NP_055500.1 homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
18307982 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
22045699 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Lewy body core IDA
IDA: 通过直接分析推断
19788048 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15102845 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
10922362 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

HERPUD1 蛋白结构

ubiquitin

ubiquitin: Ubiquitin family (18 - 87)

  • 0
  • 100
  • 200
  • 300
  • 391 a.a.
蛋白主名 其他名称

homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein

MMS-inducible

关联疾病

疾病名称 别名
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

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
Canis familiaris HERPUD1 VGNC VGNC:41663
Felis catus HERPUD1 VGNC VGNC:62801
Rattus norvegicus HERPUD1 RGD RGD:620818
Mus musculus HERPUD1 MGD MGI:1927406
Macaca mulatta HERPUD1 VGNC VGNC:73163
Bos taurus HERPUD1 VGNC VGNC:29816