2. Gene
  3. TMEM129 - transmembrane protein 129, E3 ubiquitin ligase Gene

TMEM129 - transmembrane protein 129, E3 ubiquitin ligase Gene

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

中文名称：跨膜蛋白 129，E3 泛素连接酶

种属: Homo sapiens

同用名: D4S2561E

基因 ID: 92305 | 基因类型: protein coding

关于 TMEM129

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,715,952-1,721,323 (from NCBI)

This gene has 6 transcripts (splice variants) and 188 orthologues. Ubiquitous expression in kidney (RPKM 11.0), thyroid (RPKM 10.1) and 25 other tissues.

功能概要

启用泛素蛋白连接酶活性。参与蛋白质多泛素化；逆行蛋白质转运，ER 到胞质溶胶；和泛素依赖性 ERAD 通路。位于内质网。 [由基因组资源联盟提供，2022 年 4 月]

Enables ubiquitin protein Ligase activity. Involved in protein polyubiquitination; retrograde protein transport, ER to cytosol; and ubiquitin-dependent ERAD pathway. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

TMEM129 基因产物(2)

mRNA Protein Name
NM_001127266.2 NP_001120738.1 E3 ubiquitin-protein ligase TM129 isoform a
NM_138385.4 NP_612394.1 E3 ubiquitin-protein ligase TM129 isoform b
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
32814053 GOA
enables ubiquitin protein ligase activity EXP
EXP: 通过实验结果推断
24807418 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
24807418 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IMP
IMP: 通过突变表型推断
24807418 GOA
involved in protein polyubiquitination IDA
IDA: 通过直接分析推断
24807418 GOA
involved in retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
24807418 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
24807418 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
24807418 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

TMEM129 蛋白结构

Tmpp129

Tmpp129: Putative transmembrane protein precursor (17 - 361)

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

E3 ubiquitin-protein ligase TM129

RING-type E3 ubiquitin transferase TM129

关联疾病

疾病名称 别名
Blepharochalasis

Dermatolysis Palpebrarum

Adiposa Ptosis
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
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-RS14661 TMEM129 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris TMEM129 VGNC VGNC:47463
Rattus norvegicus TMEM129 RGD RGD:1310828
Mus musculus TMEM129 MGD MGI:1915616
Felis catus TMEM129 VGNC VGNC:66266
Bos taurus TMEM129 VGNC VGNC:35962
Macaca mulatta TMEM129 VGNC VGNC:107204
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