1. Gene
  2. HECTD1 - HECT domain E3 ubiquitin protein ligase 1 Gene

HECTD1 - HECT domain E3 ubiquitin protein ligase 1 Gene

中文名称:HECT 结构域 E3 泛素蛋白连接酶 1

种属: Homo sapiens

同用名: EULIR

基因 ID: 25831 | 基因类型: protein coding

关于 HECTD1

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:31,100,117-31,207,793 (from NCBI)

This gene has 30 transcripts (splice variants), 212 orthologues and 24 paralogues. Ubiquitous expression in thyroid (RPKM 22.9), testis (RPKM 20.1) and 25 other tissues.

功能概要

预测可启用泛素蛋白连接酶活性。预计参与解剖结构开发;蛋白酶体泛素依赖性蛋白质分解代谢过程的正调控;和蛋白质 K63 连接的泛素化。预计在几个过程的上游或内部起作用,包括动物器官发育;蛋白质定位到质膜的负调节;和蛋白质自身泛素化。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable ubiquitin protein Ligase activity. Predicted to be involved in anatomical structure development; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and protein K63-linked ubiquitination. Predicted to act upstream of or within several processes, including animal organ development; negative regulation of protein localization to plasma membrane; and protein autoubiquitination. [provided by Alliance of Genome Resources, Apr 2022]

HECTD1 基因产物(2)

mRNA Protein Name
NM_001411010.1 NP_001397939.1 E3 ubiquitin-protein ligase HECTD1 isoform 2
NM_015382.4 NP_056197.3 E3 ubiquitin-protein ligase HECTD1 isoform 1
基因本体论
  • 分子功能
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
12421765 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
33711283 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

HECTD1 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (401 - 480)

Sad1_UNC

Sad1_UNC: Sad1 / UNC-like C-terminal (1109 - 1239)

MIB_HERC2

MIB_HERC2: Mib_herc2 (1277 - 1336)

HECT

HECT: HECT-domain (ubiquitin-transferase) (2180 - 2610)

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  • 2000
  • 2610 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase HECTD1

E3 ligase for inhibin receptor

关联疾病

疾病名称 别名
Diffuse Pulmonary Fibrosis
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 HECTD1 MGD MGI:2384768
Bos taurus HECTD1 VGNC VGNC:29800
Felis catus HECTD1 VGNC VGNC:62782
Macaca mulatta HECTD1 VGNC VGNC:73200
Canis familiaris HECTD1 VGNC VGNC:41642
Rattus norvegicus HECTD1 RGD RGD:1561653