AP1S3 - adaptor related protein complex 1 subunit sigma 3 Gene

Also Known as PSORS15; sigma1C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 130340

About 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.

Summary

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 Products (1)

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein targeting	IMP IMP: Inferred from mutant phenotype	24791904	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP1S3 Protein Structure

Clat_adaptor_s

0
100
154 a.a.

Protein Preferred Names	Protein Names
AP-1 complex subunit sigma-3	adapter-related protein complex 1 subunit sigma-1C

AP1S3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AP1S3	Q96PC3	AAGAB	Homo sapiens	Q6PD74	Y2H Array	25416956
Intra	AP1S3	Q96PC3	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00783	AP1S3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	AP1S3	NCBI