AP3S1 - adaptor related protein complex 3 subunit sigma 1 Gene

Homo sapiens

Also known as CLAPS3; Sigma3A

Gene ID: 1176 | Gene type: protein coding

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

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

Bioactive Molecules (2)

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

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