1. Gene
  2. UBR3 - ubiquitin protein ligase E3 component n-recognin 3 Gene

UBR3 - ubiquitin protein ligase E3 component n-recognin 3 Gene

中文名称:泛素蛋白连接酶 E3 成分 n-识别蛋白 3

种属: Homo sapiens

同用名: ZNF650

基因 ID: 130507 | 基因类型: protein coding

关于 UBR3

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:169,827,454-170,084,131 (from NCBI)

This gene has 10 transcripts (splice variants), 215 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 13.7), thyroid (RPKM 11.5) and 25 other tissues.

功能概要

预测可启用泛素蛋白连接酶活性。预计参与多个过程,包括细胞蛋白质代谢过程;气味的感官知觉;和哺乳行为。预计在子宫内胚胎发育和嗅觉行为的上游或内部起作用。预计是膜的组成部分。预计是泛素连接酶复合物的一部分。预计在细胞质中有活性。 [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 several processes, including cellular protein metabolic process; sensory perception of smell; and suckling behavior. Predicted to act upstream of or within in utero embryonic development and olfactory behavior. Predicted to be integral component of membrane. Predicted to be part of ubiquitin Ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

UBR3 基因产物(1)

mRNA Protein Name
NM_172070.4 NP_742067.3 E3 ubiquitin-protein ligase UBR3

UBR3 蛋白结构

zf-UBR

zf-UBR: Putative zinc finger in N-recognin (UBR box) (119 - 188)

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  • 1888 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase UBR3

N-recognin-3

关联疾病

疾病名称 别名
Johanson-Blizzard Syndrome

JBS

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness

Johanson Blizzard Syndrome

Myh-9 Related Disease

Myh9-Related Disease

Myh9-Rd

Myh9-Related Disorder

Myh9-Related Syndrome

Myh9-Related Syndromic Thrombocytopenia

Sebastian Syndrome

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

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
Rattus norvegicus UBR3 RGD RGD:1565257
Felis catus UBR3 VGNC VGNC:66786
Mus musculus UBR3 MGD MGI:1861100
Macaca mulatta UBR3 VGNC VGNC:99419
Canis familiaris UBR3 VGNC VGNC:53111
Bos taurus UBR3 VGNC VGNC:55173