ITCH - itchy E3 ubiquitin protein ligase Gene

中文名称：痒 E3 泛素蛋白连接酶

种属: Homo sapiens

同用名: AIF4; AIP4; ADMFD; NAPP1

基因 ID: 83737 | 基因类型: protein coding

关于 ITCH

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,363,273-34,511,773 (from NCBI)

This gene has 19 transcripts (splice variants), 285 orthologues, 24 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.7), esophagus (RPKM 11.6) and 25 other tissues.

功能概要

该基因编码 HECT 结构域 E3 泛素连接酶的 Nedd4 家族成员。 HECT 域 E3 泛素连接酶将泛素从 E2 泛素结合酶转移到蛋白质底物，从而靶向特定蛋白质进行溶酶体降解。编码的蛋白质在多种细胞过程中发挥作用，包括红细胞和淋巴细胞分化以及免疫反应的调节。该基因的突变是综合征性多系统自身免疫性疾病的原因。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 3 月]

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating Enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

ITCH 基因产物(5)

mRNA	Protein	Name
NM_001257137.3	NP_001244066.1	E3 ubiquitin-protein ligase Itchy homolog isoform 1
NM_001257138.3	NP_001244067.1	E3 ubiquitin-protein ligase Itchy homolog isoform 3
NM_001324197.2	NP_001311126.1	E3 ubiquitin-protein ligase Itchy homolog isoform 1
NM_001324198.2	NP_001311127.1	E3 ubiquitin-protein ligase Itchy homolog isoform 2
NM_031483.7	NP_113671.3	E3 ubiquitin-protein ligase Itchy homolog isoform 2

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 CXCR chemokine receptor binding	IPI IPI: 通过物理相互作用推断	19116316	GOA
enables arrestin family protein binding	IPI IPI: 通过物理相互作用推断	23886940	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9647693	GOA
enables ribonucleoprotein complex binding	IPI IPI: 通过物理相互作用推断	19881509	GOA
enables ubiquitin protein ligase activity	IDA IDA: 通过直接分析推断	15678106	GOA
enables ubiquitin protein ligase activity	IMP IMP: 通过突变表型推断	15051726	GOA
enables ubiquitin-like protein ligase binding	IPI IPI: 通过物理相互作用推断	24790097	GOA
enables ubiquitin-protein transferase activity	EXP EXP: 通过实验结果推断	34999730	GOA
enables ubiquitin-ubiquitin ligase activity	IDA IDA: 通过直接分析推断	29378950	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of apoptotic process	IMP IMP: 通过突变表型推断	20068034	GOA
involved in negative regulation of cytoplasmic pattern recognition receptor signaling pathway	IDA IDA: 通过直接分析推断	27736772	GOA
involved in negative regulation of defense response to virus	IMP IMP: 通过突变表型推断	19881509	GOA
involved in positive regulation of receptor catabolic process	IMP IMP: 通过突变表型推断	24790097	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	29378950	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	22009753	GOA
involved in protein K29-linked ubiquitination	IDA IDA: 通过直接分析推断	17028573	GOA
involved in protein K48-linked ubiquitination	IDA IDA: 通过直接分析推断	19881509	GOA
involved in protein K63-linked ubiquitination	IDA IDA: 通过直接分析推断	18718448	GOA
involved in protein autoubiquitination	IMP IMP: 通过突变表型推断	24790097	GOA
involved in protein branched polyubiquitination	IDA IDA: 通过直接分析推断	29378950	GOA
involved in protein monoubiquitination	IDA IDA: 通过直接分析推断	34927784	GOA
involved in protein ubiquitination	IDA IDA: 通过直接分析推断	17592138	GOA
involved in protein ubiquitination	IMP IMP: 通过突变表型推断	24790097	GOA
involved in receptor internalization	IMP IMP: 通过突变表型推断	34927784	GOA
acts upstream of or within ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	15678106	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	22009753	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	22009753	GOA
colocalizes with early endosome	IDA IDA: 通过直接分析推断	24790097	GOA
is active in plasma membrane	IDA IDA: 通过直接分析推断	34927784	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	14602072	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	24790097	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

ITCH 蛋白结构

HECT

0
200
400
600
800
903 a.a.

蛋白主名

其他名称

E3 ubiquitin-protein ligase Itchy homolog

HECT-type E3 ubiquitin transferase Itchy homolog

ITCH 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	ITCH	Q96J02	TTYH3	Homo sapiens	Q9C0H2	Phage Display	37219487
种属内	ITCH	Q96J02	CYLD	Homo sapiens	Q9NQC7	Anti Tag CoIP	22057290
种属内	ITCH	Q96J02	TP63	Homo sapiens	Q9H3D4	Anti Bait CoIP	16908849
种属内	ITCH	Q96J02	ARRDC1	Homo sapiens	Q8N5I2	Y2H	23236378
种属内	ITCH	Q96J02	MLANA	Homo sapiens	Q16655	Phage Display	37219487
种属内	ITCH	Q96J02	SGK3	Homo sapiens	Q96BR1	IF	16888620
种属内	ITCH	Q96J02	SGK3	Homo sapiens	Q96BR1	Pull Down	16888620
种属内	ITCH	Q96J02	GLI1	Homo sapiens	P08151	Pull Down	20818436
种属内	ITCH	Q96J02	PI4K2A	Homo sapiens	Q9BTU6	IF	23146885
种属内	ITCH	Q96J02	PI4K2A	Homo sapiens	Q9BTU6	Pull Down	23146885
种属内	ITCH	Q96J02	TP73	Homo sapiens	O15350	Anti Bait CoIP	15678106
种属内	ITCH	Q96J02	TP73	Homo sapiens	O15350	Phage Display	37219487
种属内	ITCH	Q96J02	TP73	Homo sapiens	O15350	Pull Down	17592138
种属内	ITCH	Q96J02	TP73	Homo sapiens	O15350-1	Pull Down	15678106
种属内	ITCH	Q96J02	TP73	Homo sapiens	O15350-1	Anti Tag CoIP	15678106
种属内	ITCH	Q96J02	RNF11	Homo sapiens	Q9Y3C5	Anti Tag CoIP	20676133
种属间	ITCH	Q96J02	M	Isfahan virus	Q5K2K5	Phage Display	37100772
种属内	ITCH	Q96J02	N4BP1	Homo sapiens	O75113	Pull Down	17592138
种属内	ITCH	Q96J02	N4BP1	Homo sapiens	O75113	Anti Tag CoIP	17592138
种属内	ITCH	Q96J02	TP73	Homo sapiens	O15350-8	Anti Tag CoIP	15678106
种属内	ITCH	Q96J02	TMEM51	Homo sapiens	Q9NW97	Phage Display	37219487
种属内	ITCH	Q96J02	TP53BP2	Homo sapiens	Q13625	Anti Bait CoIP	25436413
种属内	ITCH	Q96J02	SNX9	Homo sapiens	Q9Y5X1	Anti Tag CoIP	20491914
种属内	ITCH	Q96J02	ENTREP1	Homo sapiens	Q15884	Y2H	34927784
种属间	ITCH	Q96J02	VP40	Sudan ebolavirus	Q5XX06	Phage Display	37100772
种属间	ITCH	Q96J02	VP40	Lake Victoria marburgvirus	Q6UY67	Phage Display	37100772
种属间	ITCH	Q96J02	VP40	Lake Victoria marburgvirus	Q1PDC8	Phage Display	37100772
种属间	ITCH	Q96J02	VP40	Lake Victoria marburgvirus	Q1PD51	Phage Display	37100772
种属间	ITCH	Q96J02	VP40	Lake Victoria marburgvirus	Q03040	Phage Display	37100772
种属间	ITCH	Q96J02	VP40	Lake Victoria marburgvirus	P35260	Phage Display	37100772
种属间	ITCH	Q96J02	M	Vesicular stomatitis Indiana virus	Q8B0I2	Phage Display	37100772
种属间	ITCH	Q96J02	M	Vesicular stomatitis Indiana virus	Q8B0H7	Phage Display	37100772
种属间	ITCH	Q96J02	M	Vesicular stomatitis Indiana virus	Q8B0H2	Phage Display	37100772
种属间	ITCH	Q96J02	M	Vesicular stomatitis Indiana virus	P04876	Phage Display	37100772
种属间	ITCH	Q96J02	M	Vesicular stomatitis Indiana virus	P03519	Phage Display	37100772

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ITCH 蛋白

目录号	产品名	蛋白编号	纯度
HY-P75894	ITCH/AIP4 Protein, Human (solution)	NP_113671.3 (N-G&P, R485-E862)	≥95%
HY-P75894A	ITCH/AIP4 Protein, Human	Q96J02-2/NP_113671.3 (R485-E862)	≥95%

ITCH 抗体

目录号	产品名	应用	反应物种
HY-P82878	ITCH Antibody (YA2623)	WB, IHC-P	Human, Mouse, Rat

关联疾病

疾病名称

别名

Autoimmune Disease, Multisystem, With Facial Dysmorphism

Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	ADMFD
Syndromic Multisystem Autoimmune Disease

Itch E3 Ubiquitin Ligase Deficiency

Autoimmune Disease, Syndromic Multisystem

Syndromic Multisystem Autoimmune Disease

Autoimmune Disease

Autoimmune Diseases	Autoimmune Hypersensitivity Disease
Hypersensitivity Reaction Type Ii Disease	Type Ii Hypersensitivity Reaction Disease

Influenza

Flu	Influenza With Non-Respiratory Manifestation
Influenza With Other Manifestations	Influenza, Human
Influenza, Susceptibility To	Seasonal Influenza, Virus Identified

Immunodeficiency 58

IMD58	Severe Combined Immunodeficiency Due To Carmil2 Deficiency
Combined Immunodeficiency Due To Carmil2 Deficiency	Combined Immunodeficiency Due To Rltpr Deficiency

Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome	SPG20
Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting	Spastic Paraplegia, Autosomal Recessive, Troyer Type
Autosomal Recessive Spastic Paraplegia Type 20	Autosomal Recessive Hereditary Spastic Paraplegia
Spastic Paraplegia 20	Cross-Mckusick Syndrome
Autosomal Recessive Spastic Paraplegia 20	Autosomal Recessive Spastic Paraplegia Troyer Type
Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting	Hereditary Spastic Paraplegia 20
Spastic Paraplegia Type 20	Hereditary Spastic Paraplegia
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome	Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
Spastic Paraplegia Autosomal Recessive Troyer Type	Trs
Spastic Paraplegia Hereditary Autosomal Recessive	Spastic Paraplegia, Hereditary

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

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

目录号	产品名	作用方式	纯度	是否罕见病
HY-B0548A	Hydroxyzine dihydrochloride	Antagonist	99.81%	否
HY-B1183	Hydrocortisone acetate	Agonist	99.14%	是
HY-B0548	Hydroxyzine	Antagonist	99.60%	否
HY-106566	Alclometasone dipropionate		≥96.0%	否

目录号	产品名	作用方式	纯度	是否罕见病
HY-P99025	Lebrikizumab	Inhibitor	99.90%	否
HY-P99162	Nemolizumab	Inhibitor	99.70%	否

目录号	产品名	作用方式	纯度	Phase
HY-136642	Fluocinolone	Agonist	99.66%	Phase 4
HY-14939	Vapitadine		/	Phase 2

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-129047	Trypsin	Activator	/	否
HY-103368	Eact	Activator	98.14%	否
HY-148244	MS47134		99.88%	否
HY-118069	(R)-ZINC-3573	Agonist	99.81%	否
HY-129047A	Trypsin (MS grade)	Activator	95.00%	否
HY-103320A	Calhex 231 hydrochloride	Inhibitor	99.81%	否
HY-147051	Nelremagpran		99.64%	否
HY-145997	MRGPRX4 modulator-1		99.09%	否
HY-148949	Kallikrein 5-IN-2		98.69%	否
HY-B1144A	Chlormidazole hydrochloride	Inhibitor	98.98%	否
HY-P1192	GR-73632	Agonist	99.93%	否
HY-103320B	(1R,2R)-Calhex 231 hydrochloride	Control	99.07%	否
HY-145153	S-777469	Agonist	98.83%	否
HY-108425	AMG8379	Antagonist	/	否
HY-108425B	(Rac)-AMG8379	Antagonist	/	否
HY-103320	Calhex 231	Antagonist	/	否
HY-108425A	AMG8380	Antagonist	/	否
HY-124356	Alcaftadine carboxylic acid		/	否
HY-135495	AM-0466	Inhibitor	/	否
HY-143481	Nav1.8-IN-2	Inhibitor	/	否
HY-157496	EP3 antagonist 7	Antagonist	/	否
HY-163840	GFRα2/3-IN-1	Inhibitor	/	否
HY-P5357	SFNGGP-NH2		/	否
HY-RS06943	ITCH Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-124356AS	Alcaftadine carboxylic acid-d3 sodium		/	否
HY-N12040	γ-Isofagarine		/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	ITCH	VGNC	VGNC:42117
Macaca mulatta	ITCH	VGNC	VGNC:73589
Rattus norvegicus	ITCH	RGD	RGD:1359556
Bos taurus	ITCH	VGNC	VGNC:30307
Mus musculus	ITCH	MGD	MGI:1202301
Felis catus	ITCH	VGNC	VGNC:80122
Others	ITCH	NCBI

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