Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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130340 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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AP1S3 |
SynonymsGene synonyms aliases
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PSORS15, sigma1C |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q36.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
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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 |
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Palmoplantar pustules |
Pustulosis of Palms and Soles, Pustulosis palmaris et plantaris |
|
24791904 |
Psoriasiform eczema |
Psoriasiform eczema |
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