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Ap3s1 adaptor-related protein complex 3, sigma 1 subunit [ Mus musculus (house mouse) ]

Gene ID: 11777, updated on 18-Sep-2024

Summary

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Official Symbol
Ap3s1provided by MGI
Official Full Name
adaptor-related protein complex 3, sigma 1 subunitprovided by MGI
Primary source
MGI:MGI:1337062
See related
Ensembl:ENSMUSG00000024480 AllianceGenome:MGI:1337062
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
This gene encodes the sigma subunit of the heterotetrameric adaptor protein complex AP-3 which is involved in the formation of specialized lysosome-related compartments such as melanosomes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on chromosomes 1, 8, 16, 17 and X. [provided by RefSeq, Dec 2014]
Expression
Ubiquitous expression in CNS E18 (RPKM 12.6), CNS E14 (RPKM 11.2) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Ap3s1 in Genome Data Viewer
Location:
18 C; 18 24.77 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (46874761..46923893)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (46741694..46790826)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_44516 Neighboring gene cysteine dioxygenase 1, cytosolic Neighboring gene STARR-positive B cell enhancer mm9_chr18:46901062-46901363 Neighboring gene autophagy related 12 Neighboring gene STARR-seq mESC enhancer starr_44521 Neighboring gene laeverin Neighboring gene STARR-seq mESC enhancer starr_44523 Neighboring gene predicted gene, 23610 Neighboring gene ADP-ribosylation factor-like 14 effector protein-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Interaction of insulin receptor substrate-1 with the sigma3A subunit of the adaptor protein complex-3 in cultured adipocytes. VanRenterghem B, et al. J Biol Chem, 1998 Nov 6. PMID 9792713
  2. Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1. Nie Z, et al. Dev Cell, 2003 Sep. PMID 12967569
  3. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Di Pietro SM, et al. Mol Biol Cell, 2006 Sep. PMID 16837549, Free PMC Article
  4. Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain. Seong E, et al. Mol Biol Cell, 2005 Jan. PMID 15537701, Free PMC Article
  5. Association of the AP-3 adaptor complex with clathrin. Dell'Angelica EC, et al. Science, 1998 Apr 17. PMID 9545220

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117528

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in Golgi to vacuole transport IEA
Inferred from Electronic Annotation
more info
  
involved_in anterograde axonal transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in anterograde synaptic vesicle transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in clathrin-coated vesicle cargo loading, AP-3-mediated NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within intracellular protein transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in intracellular transport NAS
Non-traceable Author Statement
more info
 PubMed 
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 synaptic vesicle coating NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in synaptic vesicle recycling NAS
Non-traceable Author Statement
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 
acts_upstream_of_or_within vesicle-mediated transport TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of AP-3 adaptor complex ISO
Inferred from Sequence Orthology
more info
  
part_of AP-3 adaptor complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in trans-Golgi network TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
AP-3 complex subunit sigma-1
Names
AP-3 complex sigma-3A subunit
adapter-related protein complex 3 sigma-1 subunit
adaptor-related protein complex AP-3, sigma 1 subunit
sigma-3A-adaptin
sigma-adaptin 3a

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.

mRNA and Protein(s)

  1. NM_001303015.1 → NP_001289944.1  AP-3 complex subunit sigma-1 isoform 2

    See identical proteins and their annotated locations for NP_001289944.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC123927, AK137489, BC145234
    Consensus CDS
    CCDS89235.1
    UniProtKB/TrEMBL
    A0A286YDU3
    Related
    ENSMUSP00000153388.2, ENSMUST00000224622.2
    Conserved Domains (1) summary
    cd14834
    Location:1 → 146
    AP3_sigma; AP-3 complex subunit sigma

  2. NM_009681.5 → NP_033811.1  AP-3 complex subunit sigma-1 isoform 1

    See identical proteins and their annotated locations for NP_033811.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC123927, AK137489, AK152100
    Consensus CDS
    CCDS29236.1
    UniProtKB/Swiss-Prot
    O88670, Q9DCR2
    UniProtKB/TrEMBL
    Q3U8S0
    Related
    ENSMUSP00000025357.8, ENSMUST00000025357.9
    Conserved Domains (1) summary
    cd14834
    Location:1 → 146
    AP3_sigma; AP-3 complex subunit sigma

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    46874761..46923893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006525528.5 → XP_006525591.1  AP-3 complex subunit sigma-1 isoform X1

    Conserved Domains (1) summary
    cl38905
    Location:1 → 78
    longin-like; Longin-like domains

  2. XM_036160943.1 → XP_036016836.1  AP-3 complex subunit sigma-1 isoform X2

    Conserved Domains (1) summary
    cd14834
    Location:1 → 146
    AP3_sigma; AP-3 complex subunit sigma

RNA

  1. XR_004939814.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9DCR2.2 GenPept UniProtKB/Swiss-Prot:Q9DCR2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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