AP1S1
AP-1 complex subunit sigma-1A
Also known as: AP19, AP1S1_HUMAN, CLAPS1, EKV3, SIGMA1A, WUGSC:H_DJ0747G18.2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P61966
- Gene
- AP1S1
- Ensembl
- ENSG00000106367
- Chromosome
- 7
- Canonical length
- 158 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Golgi apparatus,Vesicles
OverviewNCBI 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-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
158 residues, UniProt reviewed canonical sequence.
>P61966|AP1S1
1 MMRFMLLFSR QGKLRLQKWY LATSDKERKK MVRELMQVVL ARKPKMCSFL EWRDLKVVYK
61 RYASLYFCCA IEGQDNELIT LELIHRYVEL LDKYFGSVCE LDIIFNFEKA YFILDEFLMG
121 GDVQDTSKKS VLKAIEQADL LQEEDESPRS VLEEMGLALocalizationUniProt · AlphaFold · HPA
Whether an antibody against AP1S1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 116 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 116 nTPM
- cerebral cortex: 105 nTPM
- amygdala: 88 nTPM
- hippocampal formation: 68 nTPM
- kidney: 48 nTPM
- hypothalamus: 44 nTPM
Single-cell type
- enterocytes: 209 nCPM
- migrating cytotrophoblasts: 206 nCPM
- cytotrophoblasts: 197 nCPM
- esophageal basal cells: 147 nCPM
- esophageal suprabasal cells: 140 nCPM
- enteric transient amplifying cells: 128 nCPM
Immune cell
- plasmacytoid DC: 5.1 nTPM
- myeloid DC: 4.6 nTPM
- classical monocyte: 3.3 nTPM
- T-reg: 3.3 nTPM
- memory CD4 T-cell: 3.2 nTPM
- intermediate monocyte: 3.1 nTPM
Brain region
- cerebral cortex: 114 nTPM
- basal ganglia: 94 nTPM
- amygdala: 87 nTPM
- hippocampal formation: 83 nTPM
- thalamus: 68 nTPM
- white matter: 66 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AP1S1.
Disease | AllUniProt
Conditions AP1S1 is implicated in, by any mechanism.
- MEDNIK syndrome (MEDNIK) MIM:609313
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 161 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- MEDNIK syndrome
- AP1S1-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.86
- gnomAD pLI
- 0.1
- gnomAD missense Z
- 1.74
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- basolateral protein secretion
- intracellular protein transport
- melanosome assembly
- platelet dense granule organization
- receptor-mediated endocytosis
- response to virus
- retrograde transport, endosome to Golgi
- vesicle-mediated transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AP1S1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AP1S1 as an antibody target. Whether an autoantibody or antibody against AP1S1 could matter depends on whether native AP1S1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AP1S1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AP1S1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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