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

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

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%

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

相关产品

Approval

生物活性分子 (3)

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

抗体抑制剂 (1)

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

Clinical Phase

生物活性分子 (1)

目录号	产品名	作用方式	纯度	Phase
HY-106566	Alclometasone dipropionate		≥96.0%	Phase 2

Pre-clinical Phase

生物活性分子 (26)

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-103320A	Calhex 231 hydrochloride	Inhibitor	99.81%	否
HY-118069	(R)-ZINC-3573	Agonist	99.81%	否
HY-147051	MRGPRX4 modulator-2		99.64%	否
HY-145997	MRGPRX4 modulator-1		99.09%	否
HY-129047A	Trypsin (MS grade)	Activator	95.00%	否
HY-136642	Fluocinolone		99.66%	是
HY-148949	Kallikrein 5-IN-2		98.69%	否
HY-B1144A	Chlormidazole hydrochloride	Inhibitor	98.98%	否
HY-103320B	(1R,2R)-Calhex 231 hydrochloride		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-143481	Nav1.8-IN-2	Inhibitor	/	否
HY-157496	EP3 antagonist 7	Antagonist	/	否
HY-163840	GFRα2/3-IN-1		/	否
HY-P1192	GR-73632	Agonist	99.98%	否
HY-P5357	SFNGGP-NH2		/	否
HY-RS06943	ITCH Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-124356	Alcaftadine carboxylic acid		/	否
HY-135495	AM-0466		/	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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