AP1S3 - adaptor related protein complex 1 subunit sigma 3 Gene

Homo sapiens

Also known as PSORS15; sigma1C

Gene ID: 130340 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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