Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
130340
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 1 subunit sigma 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AP1S3
Synonyms (NCBI Gene) Gene synonyms aliases
PSORS15, sigma1C
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.1
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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, 32296183, 33961781
GO:0005765 Component Lysosomal membrane NAS 23247405
GO:0005765 Component Lysosomal membrane TAS
GO:0005769 Component Early endosome NAS 23247405
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615781 18971 ENSG00000152056
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
Sequence length 154
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Atopic asthma, Asthma, Asthma (childhood onset) N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Palmoplantar Pustules pustulosis palmaris et plantaris N/A N/A GenCC
Psoriasis Psoriasis 15, pustular, susceptibility to, psoriasis 14, pustular, psoriasis 15, pustular, susceptibility to N/A N/A ClinVar, GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 30036598
Arthritis Psoriatic Associate 36113963
Breast Neoplasms Stimulate 40555003
Carcinoma Pancreatic Ductal Associate 29660218
Diabetes Complications Associate 34367317
Genetic Diseases Inborn Associate 36113963
Glioblastoma Stimulate 34367317
Glioma Associate 34367317
Hereditary Autoinflammatory Diseases Associate 27388993
Inflammation Associate 27388993