Gene Gene information from NCBI Gene database.
Entrez ID 130340
Gene name Adaptor related protein complex 1 subunit sigma 3
Gene symbol AP1S3
Synonyms (NCBI Gene)
PSORS15sigma1C
Chromosome 2
Chromosome location 2q36.1
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
SNPs SNP information provided by dbSNP.
2
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.
997
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615781 18971 ENSG00000152056
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANGIOEDEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AP1S3-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia Achondroplasia Pubtator 30036598 Associate
★☆☆☆☆
Found in Text Mining only
Acrodermatitis continua of Hallopeau Acrodermatitis Continua Of Hallopeau ORPHANET_DG 24791904
★☆☆☆☆
Found in Text Mining only
Acrodermatitis continua of Hallopeau Acrodermatitis Continua Of Hallopeau Orphanet
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 28887889
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29660218
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 36113963 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 30929738
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoinflammatory disorder Autoinflammatory Disease GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40555003 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 29660218 Associate
★☆☆☆☆
Found in Text Mining only