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AP1S3 (adaptor related protein complex 1 subunit sigma 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
130340
Gene nameGene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 1 subunit sigma 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AP1S3
SynonymsGene synonyms aliases
PSORS15, sigma1C
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs116107386 A>C Risk-factor Non coding transcript variant, coding sequence variant, missense variant
rs138292988 G>A Likely-benign, risk-factor Non coding transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023729 hsa-miR-1-3p Microarray 18668037
MIRT027290 hsa-miR-101-3p Sequencing 20371350
MIRT705629 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT705628 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT705627 hsa-miR-940 HITS-CLIP 23313552
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 25416956
GO:0005765 Component Lysosomal membrane TAS
GO:0005829 Component Cytosol TAS
GO:0005905 Component Clathrin-coated pit IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96PC3
Protein name AP-1 complex subunit sigma-3 (Adaptor protein complex AP-1 subunit sigma-1C) (Adaptor-related protein complex 1 subunit sigma-1C) (Clathrin assembly protein complex 1 sigma-1C small chain) (Golgi adaptor HA1/AP1 adaptin sigma-1C subunit) (Sigma 1C subunit
Protein function Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognitio
PDB 4HMY , 6CM9 , 6CRI , 6D83 , 6D84 , 6DFF , 7R4H , 7UX3 , 8D4C , 8D4D , 8D4E , 8D4F , 8D4G , 8D9R , 8D9S , 8D9T , 8D9U , 8D9V , 8D9W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01217 Clat_adaptor_s
1 142
Clathrin adaptor complex small chain
Domain
Sequence
Sequence length 154
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Lysosome
Human immunodeficiency virus 1 infection
  Nef mediated downregulation of MHC class I complex cell surface expression
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma, Childhood asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 30929738
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212
Pustular psoriasis Generalized pustular psoriasis rs387906914, rs148755083 24791904
Unknown
Disease name Disease term dbSNP ID References
Acrodermatitis continua of hallopeau Acrodermatitis continua of Hallopeau 24791904
Nail dystrophy Dystrophia unguium
Palmoplantar pustules Pustulosis of Palms and Soles, Pustulosis palmaris et plantaris 24791904
Psoriasiform eczema Psoriasiform eczema

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