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AP1S3 adaptor related protein complex 1 subunit sigma 3 [ Homo sapiens (human) ]

Gene ID: 130340, updated on 2-Nov-2024

Summary

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Official Symbol
AP1S3provided by HGNC
Official Full Name
adaptor related protein complex 1 subunit sigma 3provided by HGNC
Primary source
HGNC:HGNC:18971
See related
Ensembl:ENSG00000152056 MIM:615781; AllianceGenome:HGNC:18971
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSORS15; sigma1C
Summary
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 endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Expression
Broad expression in thyroid (RPKM 6.9), stomach (RPKM 3.1) and 16 other tissues See more
Orthologs
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Genomic context

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See AP1S3 in Genome Data Viewer
Location:
2q36.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (223755326..223837582, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (224238499..224320784, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (224620043..224702299, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12775 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:224482816-224483471 Neighboring gene secretogranin II Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:224561972-224563171 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:224563821-224565020 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:224590012-224591211 Neighboring gene MLX pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 2258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12376 Neighboring gene uncharacterized LOC124907988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:224746345-224746846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:224746847-224747346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17181 Neighboring gene WD repeat and FYVE domain containing 1 Neighboring gene general transcription factor IIIA pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in Glioma and Could Enhance Its Progression. Ye T, et al. Comput Math Methods Med, 2021. PMID 34367317, Free PMC Article
  2. AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production. Mahil SK, et al. J Invest Dermatol, 2016 Nov. PMID 27388993, Free PMC Article
  3. Replication of Caucasian loci associated with bone mineral density in Koreans. Kim YA, et al. Osteoporos Int, 2013 Oct. PMID 23575750
  4. AP1S3 is required for hepatitis C virus infection by stabilizing E2 protein. Li X, et al. Antiviral Res, 2016 Jul. PMID 27079945
  5. AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. Setta-Kaffetzi N, et al. Am J Hum Genet, 2014 May 1. PMID 24791904, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in Glioma and Could Enhance Its Progression.
    Title: Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in Glioma and Could Enhance Its Progression.
  2. study demonstrated that AP1S3 interacts with hepatitis C virus E2 and protects it from proteasome-dependent degradation
    Title: AP1S3 is required for hepatitis C virus infection by stabilizing E2 protein.
  3. AP1S3 silencing disrupted the endosomal translocation of the innate pattern-recognition receptor TLR-3 (Toll-like receptor 3) and resulted in a marked inhibition of downstream signaling.
    Title: AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Psoriasis 15, pustular, susceptibility to
MedGen: C4015235 OMIM: 616106 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env The highly conserved C-terminal dileucine motif (residues 851-856) in the cytosolic domain of HIV-1 gp41 interacts with clathrin-associated AP-1 adaptor complexes PubMed
env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
Nef nef Genome-wide shRNA screening identifies AP1S3, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
nef Adaptor-related protein complex 1 (AP-1) is necessary for cross-presentation by MHC-I HLA-A and HLA-B molecules containing a cytoplasmic tail tyrosine signal and that HIV-1 Nef inhibits the cross-presentation in antigen-presenting cells PubMed
nef HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment PubMed
nef The dileucine motif (residues 164-165) in HIV-1 Nef is required for binding to AP-1 complexes and stabilizing their association with membranes PubMed
nef A leucine-based motif near the C-terminus of HIV-1 Nef interacts with AP-1 complexes; residues 164 and 165 in Nef are required for the interaction with AP-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables clathrin adaptor activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in melanosome assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in platelet dense granule organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein targeting IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle-mediated transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of AP-1 adaptor complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in early endosome NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in lysosomal membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
  
located_in trans-Golgi network membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in trans-Golgi network membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
AP-1 complex subunit sigma-3
Names
adapter-related protein complex 1 subunit sigma-1C
adaptor protein complex AP-1 sigma-1C subunit
adaptor related protein complex 1 sigma 3 subunit
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 of AP-1 clathrin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034017.1 RefSeqGene

    Range
    5021..87277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039569.2 → NP_001034658.1  AP-1 complex subunit sigma-3

    See identical proteins and their annotated locations for NP_001034658.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AC093884, BE856458, BG177582, BG340480
    Consensus CDS
    CCDS42827.1
    UniProtKB/TrEMBL
    Q53R44
    Related
    ENSP00000379891.2, ENST00000396654.7
    Conserved Domains (1) summary
    cd14831
    Location:3 → 143
    AP1_sigma; AP-1 complex subunit sigma

RNA

  1. NR_110905.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093884, AK025338, BC009606, BC021898

  2. NR_110906.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093884, AK025338, BC021898

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    223755326..223837582 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510600.4 → XP_011508902.1  AP-1 complex subunit sigma-3 isoform X1

    UniProtKB/TrEMBL
    A0A8V8TN69
    Related
    ENSP00000401705.1, ENST00000415298.5
    Conserved Domains (1) summary
    cl02092
    Location:1 → 100
    Clat_adaptor_s; Clathrin adaptor complex small chain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    224238499..224320784 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340528.1 → XP_054196503.1  AP-1 complex subunit sigma-3 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_178814.2: Suppressed sequence

    Description
    NM_178814.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PC3.1 GenPept UniProtKB/Swiss-Prot:Q96PC3

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