AP1S3 - adaptor related protein complex 1 subunit sigma 3 Gene

中文名称：适配器相关蛋白复合物 1 亚基 sigma 3

种属: Homo sapiens

同用名: PSORS15; sigma1C

基因 ID: 130340 | 基因类型: protein coding

关于 AP1S3

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:223,755,326-223,837,582 (from NCBI)

This gene has 18 transcripts (splice variants), 253 orthologues, 6 paralogues and is associated with 4 phenotypes. Broad expression in thyroid (RPKM 6.9), stomach (RPKM 3.1) and 16 other tissues.

功能概要

该基因编码适配器相关蛋白复合物 1 的一个成员，即 sigma 亚基基因。编码的蛋白质是衔接蛋白复合物 1 (AP-1) 的一个组成部分，AP 复合物是参与网格蛋白介导的从高尔基体或核内体的囊泡转运的 AP 复合物之一。 HIV-1 抗原展示途径的破坏已证明与 AP-1 复合物 (PMID: 15569716) 有关，这会阻止细胞毒性 T 细胞识别病毒。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 3 月]

This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

AP1S3 基因产物(1)

mRNA	Protein	Name
NM_001039569.2	NP_001034658.1	AP-1 complex subunit sigma-3

基因本体论

分子功能
生物过程

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	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein targeting	IMP IMP: 通过突变表型推断	24791904	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

AP1S3 蛋白结构

Clat_adaptor_s

0
100
154 a.a.

蛋白主名

其他名称

AP-1 complex subunit sigma-3

adapter-related protein complex 1 subunit sigma-1C

AP1S3 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	AP1S3	Q96PC3	AAGAB	Homo sapiens	Q6PD74	Y2H Array	25416956
种属内	AP1S3	Q96PC3	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Psoriasis 15, Pustular

Psoriasis 15, Pustular, Susceptibility To	PSORS15
Psoriasis, Pustular, Susceptibility To, Type 15

Psoriasis 14, Pustular

Generalized Pustular Psoriasis	Gpp
Ditra	Acrodermatitis Continua Of Hallopeau
Palmoplantar Pustulosis	PSORS14
Interleukin 36 Receptor Antagonist Deficiency	Psorp
Pustular Psoriasis 14	Deficiency Of Il-36r Antagonist
Acute Generalised Pustular Psoriasis	Deficiency Of The Interleukin-36 Receptor Antagonist
Generalized Pustular Psoriasis Of Von Zumbusch	Von Zumbusch Psoriasis
Deficiency Of Il-36ra	Psoriasis, Pustular, Generalized
Psoriasis, Pustular, Type 14	Pustulosis Of Palms And Soles
Acute Generalized Pustular Psoriasis	Palmoplantar Pustular Psoriasis
Pustulosis Palmaris Et Plantaris	Ppp - [Palmoplantar Pustulosis]
Pustular Psoriasis Of The Palms And Soles	Pustular Bacterid

Periodontitis, Aggressive, 1

Pustulosis Palmaris Et Plantaris	Ppp
Periodontitis, Juvenile	Localized Pustular Psoriasis
Jpd	Periodontitis 1, Juvenile
Lpp	Palmoplantar Pustulosis
Prepubertal Periodontitis	Periodontitis, Aggressive 1
Periodontitis, Prepubertal	Periodontititis, Aggressive, 1
AP1	Juvenile Periodontitis
Periodontitis Juvenile	Pustulosis Of Palms And Soles
Generalized Pustular Psoriasis

Pustular Psoriasis

Psoriasis 15

Psors15

Combined Oxidative Phosphorylation Deficiency 16

COXPD16	Infantile Hypertrophic Cardiomyopathy Due To Mrpl44 Deficiency
Combined Oxidative Phosphorylation Defect Type 16	Combined Oxidative Phosphorylation Deficiency, Type 16

Impetigo Herpetiformis

Immunodeficiency 31a

Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency	IMD31A
Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant	Stat1 Deficiency, Autosomal Dominant
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency	Msmd Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency
Msmd Due To Partial Stat1 Deficiency	Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis
Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant

Pustulosis Of Palm And Sole

Psoriasis	Acropustulosis
Palmoplantar Pustulosis	Pustular Psoriasis Of The Palms And/Or Soles
Pustulosis Of Palms And Soles	Acrodermatitis Continua Of Hallopeau
Generalized Pustular Psoriasis

Psoriasis 2

PSORS2	Psoriasis
Psoriasis Vulgaris	Pv
Psoriasis, Susceptibility To, Type 2

Psoriasis

Immunodeficiency 31c

IMD31C	Candidiasis, Familial, 7
Candf7	Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome
Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant	Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis
Autosomal Dominant Immunodeficiency 31c	Familial Candidiasis 7
Chronic Mucocutaneous Candidiasis 7	Immunodeficiency 31c, Autosomal Dominant
Immunodeficiency, Type 31c, Autosomal Dominant

Miliaria Crystallina

Pityriasis Rubra Pilaris

PRP	Devergie'S Disease
Prp - [Pityriasis Rubra Pilaris]

Geographic Tongue

Benign Migratory Glossitis	Glossitis Areata Exfoliativa
Glossitis, Benign Migratory	Pityriasis Linguae
Ectopic Geographic Tongue	Erythema Migrans
Erythema Chronicum Migrans	Benign Migrating Glossitis
Geographical Tongue	Lingua Geographica
Erythema Migrans Of Tongue	Wandering Rash Of Tongue

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Familial Cold Autoinflammatory Syndrome 2

FCAS2	Nlrp12-Associated Hereditary Periodic Fever Syndrome
Familial Cold Autoinflammatory Syndrome Type 2	Familial Cold-Induced Autoinflammatory Syndrome Type 2
Naps12	Familial Cold Autoinflammatory Syndrome 2, Susceptibility To
Autoinflammatory Syndrome, Cold, Familial, Type 2

Atrophic Glossitis

Atrophy Of Tongue Papillae	Glossitis, Hunter'S
Hunter'S Glossitis	Smooth Atrophic Tongue
Hunter Glossitis	Central Papillary Atrophy Of The Tongue

Familial Behcet-Like Autoinflammatory Syndrome

Autoinflammatory Syndrome, Familial, Behcet-Like

A20 Haploinsufficiency

Acrodermatitis

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-RS00783	AP1S3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	AP1S3	VGNC	VGNC:25982
Felis catus	AP1S3	VGNC	VGNC:80136
Canis familiaris	AP1S3	VGNC	VGNC:37957
Mus musculus	AP1S3	MGD	MGI:1891304
Rattus norvegicus	AP1S3	RGD	RGD:1311772
Macaca mulatta	AP1S3	VGNC	VGNC:69864

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