AP3S1 - adaptor related protein complex 3 subunit sigma 1 Gene

Also Known as CLAPS3; Sigma3A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1176

About AP3S1

Cytogenetic location: 5q22.3-q23.1 Genomic coordinates (GRCh38): 5:115,841,935-115,914,081 (from NCBI)

This gene has 8 transcripts (splice variants), 199 orthologues and 6 paralogues. Ubiquitous expression in bone marrow (RPKM 9.7), small intestine (RPKM 6.5) and 25 other tissues.

Summary

This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

AP3S1 Products (9)

mRNA	Protein	Name
NM_001002924.3	NP_001002924.2	AP-3 complex subunit sigma-1 isoform 2
NM_001284.4	NP_001275.1	AP-3 complex subunit sigma-1 isoform 1
NM_001318090.2	NP_001305019.1	AP-3 complex subunit sigma-1 isoform 3
NM_001318091.2	NP_001305020.1	AP-3 complex subunit sigma-1 isoform 4
NM_001318093.2	NP_001305022.1	AP-3 complex subunit sigma-1 isoform 5
NM_001318094.2	NP_001305023.1	AP-3 complex subunit sigma-1 isoform 6
NM_001364119.1	NP_001351048.1	AP-3 complex subunit sigma-1 isoform 7
NM_001364120.1	NP_001351049.1	AP-3 complex subunit sigma-1 isoform 8
NM_001364122.1	NP_001351051.1	AP-3 complex subunit sigma-1 isoform 9

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16162817	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of AP-3 adaptor complex	IDA IDA: Inferred from direct assay	9118953	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

AP3S1 Protein Structure

Clat_adaptor_s

0
100
193 a.a.

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

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 73	DEE73 Epileptic Encephalopathy, Early Infantile, 73 Eiee73 Developmental And Epileptic Encephalopathy, 73 Early Infantile Epileptic Encephalopathy 73 Rnf13-Related Severe Early-Onset Epileptic Encephalopathy Rnf13-Related Severe Eoee
Intellectual Developmental Disorder, Autosomal Dominant 56	Mental Retardation, Autosomal Dominant 56 MRD56 Autosomal Dominant Mental Retardation 56 Autosomal Dominant Intellectual Developmental Disorder 56 Autosomal Dominant Intellectual Developmental Disorder-56
Developmental And Epileptic Encephalopathy 48	DEE48 Epileptic Encephalopathy, Early Infantile, 48 Eiee48 Developmental And Epileptic Encephalopathy, 48 Early Infantile Epileptic Encephalopathy 48
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19587	Ditercalinium chloride	Inhibitor	96.12%	Unkown
HY-RS00794	AP3S1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AP3S1	VGNC	VGNC:37967
Macaca mulatta	AP3S1	VGNC	VGNC:69867
Rattus norvegicus	AP3S1	RGD	RGD:1311115
Mus musculus	AP3S1	MGD	MGI:1337062