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AP1S1 (adaptor related protein complex 1 subunit sigma 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1174
Gene nameGene Name - the full gene name approved by the HGNC.
Adaptor related protein complex 1 subunit sigma 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
AP1S1
SynonymsGene synonyms aliases
AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005765 Component Lysosomal membrane TAS
GO:0005794 Component Golgi apparatus IDA
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 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
Sequence
Sequence length 158
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
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Erythrokeratoderma ERYTHROKERATODERMIA VARIABILIS 3 (disorder) rs753293188, rs1278993777 23423674, 24754424, 19057675
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Unknown
Disease name Disease term dbSNP ID References
Cirrhosis Cirrhosis rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Hyperkeratosis Hyperkeratosis
Lipoidosis Lipoidosis 17175557
Liver fibrosis Fibrosis, Liver

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