1. Gene
  2. DDRGK1 - DDRGK domain containing 1 Gene

DDRGK1 - DDRGK domain containing 1 Gene

中文名称:含 DDRGK 域 1

种属: Homo sapiens

同用名: UFBP1; SEMDSH; C20orf116; dJ1187M17.3

基因 ID: 65992 | 基因类型: protein coding

关于 DDRGK1

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,190,350-3,204,682 (from NCBI)

This gene has 4 transcripts (splice variants), 170 orthologues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 21.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质与泛素折叠修饰符 1 结合通路的成分相互作用,有助于防止 ER 应激分泌组织的细胞凋亡。此外,编码的蛋白质调节核因子-#B 活性。[RefSeq 提供,2015 年 12 月]

The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent Apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]

DDRGK1 基因产物(1)

mRNA Protein Name
NM_023935.3 NP_076424.1 DDRGK domain-containing protein 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 RNA polymerase II-specific DNA-binding transcription factor binding IDA
IDA: 通过直接分析推断
23675531 GOA
enables UFM1-modified protein reader activity IDA
IDA: 通过直接分析推断
36121123 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20018847 GOA
enables ubiquitin-like protein ligase binding IPI
IPI: 通过物理相互作用推断
25219498 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cartilage development IMP
IMP: 通过突变表型推断
28263186 GOA
involved in negative regulation of IRE1-mediated unfolded protein response IDA
IDA: 通过直接分析推断
28128204 GOA
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
23675531 GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
28263186 GOA
involved in positive regulation of I-kappaB phosphorylation IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of NF-kappaB transcription factor activity IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of metallopeptidase activity IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
23675531 GOA
involved in positive regulation of proteolysis involved in protein catabolic process IDA
IDA: 通过直接分析推断
36543799 GOA
involved in positive regulation of reticulophagy IDA
IDA: 通过直接分析推断
36543799 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
23675531 GOA
involved in protein K69-linked ufmylation IDA
IDA: 通过直接分析推断
25219498 GOA
involved in protein localization to endoplasmic reticulum IDA
IDA: 通过直接分析推断
32160526 GOA
involved in protein ufmylation IDA
IDA: 通过直接分析推断
32160526 GOA
involved in protein ufmylation IMP
IMP: 通过突变表型推断
30626644 GOA
involved in regulation of intracellular estrogen receptor signaling pathway IDA
IDA: 通过直接分析推断
25219498 GOA
involved in regulation of protein stability IDA
IDA: 通过直接分析推断
28128204 GOA
involved in rescue of stalled ribosome IDA
IDA: 通过直接分析推断
37595036 GOA
involved in response to endoplasmic reticulum stress IDA
IDA: 通过直接分析推断
28128204 GOA
involved in reticulophagy IDA
IDA: 通过直接分析推断
32160526 GOA
involved in ribosome disassembly IDA
IDA: 通过直接分析推断
38383785 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
20018847 GOA
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
36543799 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
20228063 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

DDRGK1 蛋白结构

DDRGK

DDRGK: DDRGK domain (116 - 302)

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

DDRGK domain-containing protein 1

Dashurin

DDRGK1 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
种属内
DDRGK1 Q96HY6 UFL1 Homo sapiens O94874 33961781
种属内
DDRGK1 Q96HY6 UFL1 Homo sapiens O94874 37595036
种属内
DDRGK1 Q96HY6 CFTR Homo sapiens P13569 35156780
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
Spondyloepimetaphyseal Dysplasia, Shohat Type

Semd, Shohat Type

SEMDSH

Spondyloepimetaphyseal Dysplasia Shohat Type

Semd Shohat Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Beukes Hip Dysplasia

Hip Dysplasia, Beukes Type

Beukes Familial Hip Dysplasia

BFHD

Cilliers-Beighton Syndrome

Osteoarthropathy, Premature Degenerative, Of Hip

Premature Degenerative Osteoarthropathy Of The Hip

BHD

Beukes Type Hip Dysplasia

Hip Dysplasia Beukes Type

Premature Degenerative Osteoarthropathy

Dysplasia, Hip, Beukes Type

Renal Cysts And Diabetes Syndrome

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

Developmental And Epileptic Encephalopathy 44

DEE44

Epileptic Encephalopathy, Early Infantile, 44

Eiee44

Developmental And Epileptic Encephalopathy, 44

Early Infantile Epileptic Encephalopathy 44

Encephalopathy, Epileptic, Early Infantile, Type 44

Metachondromatosis

METCDS

MC

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

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 DDRGK1 MGD MGI:1924256
Bos taurus DDRGK1 VGNC VGNC:27954
Rattus norvegicus DDRGK1 RGD RGD:1309979
Canis familiaris DDRGK1 VGNC VGNC:39843
Macaca mulatta DDRGK1 VGNC VGNC:107785
Felis catus DDRGK1 VGNC VGNC:80081