UBR5 - ubiquitin protein ligase E3 component n-recognin 5 Gene

中文名称：泛素蛋白连接酶 E3 成分 n-识别蛋白 5

种属: Homo sapiens

同用名: DD5; EDD; HYD; EDD1

基因 ID: 51366 | 基因类型: protein coding

关于 UBR5

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:102,252,273-102,412,700 (from NCBI)

This gene has 13 transcripts (splice variants), 209 orthologues, 24 paralogues and is associated with 104 phenotypes. Ubiquitous expression in testis (RPKM 18.7), lymph node (RPKM 11.2) and 25 other tissues.

功能概要

该基因编码孕激素诱导蛋白，属于 HECT (与 E6-AP 羧基末端同源) 家族。 HECT 家族蛋白作为 E3 泛素蛋白连接酶发挥作用，靶向特定蛋白进行泛素介导的蛋白水解。该基因定位于染色体 8q22，该染色体在多种癌症中被破坏。该基因可能在调节细胞增殖或分化中发挥作用。[RefSeq 提供，2008 年 7 月]

This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]

UBR5 基因产物(2)

mRNA	Protein	Name
NM_001282873.2	NP_001269802.1	E3 ubiquitin-protein ligase UBR5 isoform 2
NM_015902.6	NP_056986.2	E3 ubiquitin-protein ligase UBR5 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	12011095	GOA
enables ubiquitin binding	IDA IDA: 通过直接分析推断	17897937	GOA
enables ubiquitin protein ligase activity	IDA IDA: 通过直接分析推断	28689657	GOA
enables ubiquitin-ubiquitin ligase activity	IDA IDA: 通过直接分析推断	21118991	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	12011095	GOA
involved in DNA repair-dependent chromatin remodeling	IMP IMP: 通过突变表型推断	22884692	GOA
involved in cytoplasm protein quality control	IDA IDA: 通过直接分析推断	29033132	GOA
involved in cytoplasm protein quality control by the ubiquitin-proteasome system	IDA IDA: 通过直接分析推断	29033132	GOA
involved in heterochromatin boundary formation	IMP IMP: 通过突变表型推断	22884692	GOA
involved in nuclear protein quality control by the ubiquitin-proteasome system	IDA IDA: 通过直接分析推断	37478846	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: 通过突变表型推断	21118991	GOA
acts upstream of or within positive regulation of gene expression	IDA IDA: 通过直接分析推断	18076571	GOA
involved in positive regulation of protein import into nucleus	IMP IMP: 通过突变表型推断	21118991	GOA
involved in progesterone receptor signaling pathway	IDA IDA: 通过直接分析推断	12011095	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	29378950	GOA
involved in protein K11-linked ubiquitination	IDA IDA: 通过直接分析推断	21118991	GOA
involved in protein K29-linked ubiquitination	IDA IDA: 通过直接分析推断	21118991	GOA
involved in protein K48-linked ubiquitination	IDA IDA: 通过直接分析推断	28689657	GOA
involved in protein branched polyubiquitination	IDA IDA: 通过直接分析推断	29033132	GOA
involved in protein polyubiquitination	IDA IDA: 通过直接分析推断	21118991	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	37478846	GOA
is active in cytoplasm	IDA IDA: 通过直接分析推断	29033132	GOA
is active in nucleus	IDA IDA: 通过直接分析推断	37478846	GOA
located in nucleus	IDA IDA: 通过直接分析推断	12011095	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	18076571	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	18076571	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

UBR5 蛋白结构

E3_UbLigase_EDD

zf-UBR

PABP

HECT

0
500
1000
1500
2000
2500
2799 a.a.

蛋白主名

其他名称

E3 ubiquitin-protein ligase UBR5

E3 identified by differential display

UBR5 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	UBR5	O95071	PAIP2	Homo sapiens	Q9BPZ3	SPR	16601676
种属内	UBR5	O95071	PAIP2	Homo sapiens	Q9BPZ3	ITC	16601676
种属内	UBR5	O95071	GSK3B	Homo sapiens	P49841	Anti Bait CoIP	21118991
种属内	UBR5	O95071	GSK3B	Homo sapiens	P49841	Pull Down	21118991
种属内	UBR5	O95071	CTNNB1	Homo sapiens	P35222	Confocal	21118991
种属内	UBR5	O95071	CTNNB1	Homo sapiens	P35222	Anti Bait CoIP	21118991

种属间: 跨种属相互作用 种属内: 同种属相互作用

UBR5 抗体

目录号	产品名	应用	反应物种
HY-P82885	EDD Antibody (YA2630)	WB	Human, Mouse

关联疾病

疾病名称

别名

Hypogonadotropic Hypogonadism 16 With Or Without Anosmia

HH16	Hypogonadism, Hypogonadotropic, Type 16 With/Without Anosmia

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

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15390	UBR5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	UBR5	RGD	RGD:621236
Felis catus	UBR5	VGNC	VGNC:66788
Mus musculus	UBR5	MGD	MGI:1918040
Bos taurus	UBR5	VGNC	VGNC:36619
Canis familiaris	UBR5	VGNC	VGNC:48092
Macaca mulatta	UBR5	VGNC	VGNC:79050

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