AP1S2

Protein identityUniProt · HPA

UniProt accession

P56377

Gene

AP1S2

Ensembl

ENSG00000182287

Chromosome

X

Canonical length

157 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Golgi apparatus,Vesicles

OverviewNCBI Gene

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

157 residues, UniProt reviewed canonical sequence.

>P56377|AP1S2
     1  MQFMLLFSRQ GKLRLQKWYV PLSDKEKKKI TRELVQTVLA RKPKMCSFLE WRDLKIVYKR
    61  YASLYFCCAI EDQDNELITL EIIHRYVELL DKYFGSVCEL DIIFNFEKAY FILDEFLLGG
   121  EVQETSKKNV LKAIEQADLL QEEAETPRSV LEEIGLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP1S2 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)

0.32

Highest tissue expression

622 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AP1S2.

Disease | AllUniProt

Conditions AP1S2 is implicated in, by any mechanism.

• Pettigrew syndrome (PGS) MIM:304340

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 110 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pettigrew syndrome
• Fried syndrome
• Thyroid cancer, nonmedullary, 1
• Inborn genetic diseases
• X-linked syndromic intellectual disability

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)

0.45

gnomAD pLI

0.87

gnomAD missense Z

2.01

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular protein transport
• melanosome assembly
• platelet dense granule organization
• vesicle-mediated transport

Molecular functions

• clathrin adaptor activity

Cellular components

• AP-1 adaptor complex
• AP-type membrane coat adaptor complex
• clathrin-coated pit
• cytoplasmic vesicle membrane
• cytosol
• early endosome
• Golgi apparatus
• Golgi membrane
• lysosomal membrane
• trans-Golgi network membrane

Protein domainsUniProt · Pfam · InterPro

• Clathrin adaptor complex, small chain
• Longin-like domain superfamily
• Adaptor protein complex, sigma subunit
• AP complex, mu/sigma subunit
• AP-1 complex subunit sigma
• Clathrin adaptor complex small chain

KeywordsUniProt

• Coated pit
• Cytoplasmic vesicle
• Golgi apparatus
• Intellectual disability
• Membrane
• Protein transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of AP1S2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AP1G1