Gene Gene information from NCBI Gene database.
Entrez ID 1174
Gene name Adaptor related protein complex 1 subunit sigma 1
Gene symbol AP1S1
Synonyms (NCBI Gene)
AP19CLAPS1EKV3MEDNIKSIGMA1A
Chromosome 7
Chromosome location 7q22.1
Summary The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adapti
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs751430853 A>G Pathogenic Splice acceptor variant
rs981747624 T>C,G Pathogenic Stop gained, coding sequence variant, synonymous variant
rs1584203922 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
406
miRTarBase ID miRNA Experiments Reference
MIRT005815 hsa-miR-204-5p Microarray 21282569
MIRT023801 hsa-miR-1-3p Microarray 18668037
MIRT544682 hsa-miR-4524b-3p PAR-CLIP 21572407
MIRT544681 hsa-miR-1182 PAR-CLIP 21572407
MIRT544679 hsa-miR-4781-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 32296183, 32814053
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
603531 559 ENSG00000106367
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61966
Protein name AP-1 complex subunit sigma-1A (Adaptor protein complex AP-1 subunit sigma-1A) (Adaptor-related protein complex 1 subunit sigma-1A) (Clathrin assembly protein complex 1 sigma-1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adap
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 4P6Z
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. {ECO:0000269|PubMed:9733768}.
Sequence
Sequence length 158
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AP1S1-related disorder Pathogenic rs751430853 RCV004758617
MEDNIK syndrome Likely pathogenic; Pathogenic rs754496700, rs751430853, rs767358930, rs981747624, rs1584203922, rs1310110289 RCV005047809
RCV000033081
RCV001215772
RCV001731918
RCV000991383
RCV000991384
RCV005047259
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 1 Likely benign rs142485973 RCV005903024
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune enteropathy Associate 32306098
Deafness Associate 32306098
Diarrhea Associate 32306098
Dysentery Associate 32306098
Erythrokeratodermia Variabilis 3 Stimulate 31630791
Erythrokeratodermia Variabilis 3 Associate 32306098
Fever Stimulate 30909744
Glioblastoma Associate 31137733
Ichthyosis Associate 32306098
Intellectual Disability Associate 32306098