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 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
PSORS15 |
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 |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
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 View all (32 more) |
|
Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
|
Pustular psoriasis |
Generalized pustular psoriasis |
rs387906914, rs148755083 |
24791904 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma, Childhood asthma |
|
30929738 |
ClinVar, GWAS |
Palmoplantar Pustules |
pustulosis palmaris et plantaris |
|
|
GenCC |
Hypertension |
Hypertension |
|
|
GWAS |
|
Associations from Text Mining |
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 |
Lymphoma Non Hodgkin |
Inhibit
|
34367317 |
Neoplasms |
Associate
|
40555003 |
Psoriasis |
Associate
|
30036598 |
|