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    AP3S1 adaptor related protein complex 3 sigma 1 subunit [ Homo sapiens (human) ]

    Gene ID: 1176, updated on 8-Apr-2018
    Official Symbol
    AP3S1provided by HGNC
    Official Full Name
    adaptor related protein complex 3 sigma 1 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:2013
    See related
    Ensembl:ENSG00000177879 MIM:601507; Vega:OTTHUMG00000128887
    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
    CLAPS3; Sigma3A
    Summary
    This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.7), small intestine (RPKM 6.5) and 25 other tissues See more
    Orthologs
    Location:
    5q22.3-q23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (115841606..115914081)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (115177303..115249778)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U2 small nuclear 49, pseudogene Neighboring gene cysteine dioxygenase type 1 Neighboring gene autophagy related 12 Neighboring gene uncharacterized LOC107986443 Neighboring gene laeverin Neighboring gene DEAD-box helicase 43 pseudogene 1

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 sigma 1 subunit (AP3S1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Envelope surface glycoprotein gp160, precursor env In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 sigma 1 subunit (AP3S1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 sigma 1 subunit (AP3S1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 3 sigma 1 subunit (AP3S1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    gag AP3S1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release PubMed
    gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
    matrix gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed

    Go to the HIV-1, Human Interaction Database

    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    AP-3 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    AP-type membrane coat adaptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    transport vesicle TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    AP-3 complex subunit sigma-1
    Names
    adapter-related protein complex 3 subunit sigma-1
    adaptor-related protein complex 3 subunit sigma-1
    clathrin adaptor complex AP3, sigma-3A subunit
    clathrin-associated/assembly/adapter protein, small 3
    clathrin-associated/assembly/adaptor protein, small 3 (22kD)
    sigma-adaptin 3a

    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_001002924.2NP_001002924.2  AP-3 complex subunit sigma-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC026449, BC000804, BC012614, BP368651, BX647735
      UniProtKB/Swiss-Prot
      Q92572
      Conserved Domains (1) summary
      COG5030
      Location:1130
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    2. NM_001284.3NP_001275.1  AP-3 complex subunit sigma-1 isoform 1

      See identical proteins and their annotated locations for NP_001275.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC026449, BC000804, BP368651, BX647735
      Consensus CDS
      CCDS4123.1
      UniProtKB/Swiss-Prot
      Q92572
      Related
      ENSP00000325369.7, OTTHUMP00000159125, ENST00000316788.11, OTTHUMT00000250847
      Conserved Domains (1) summary
      COG5030
      Location:1152
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    3. NM_001318090.1NP_001305019.1  AP-3 complex subunit sigma-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC026449, BC000804, BP368651, DB483797
      UniProtKB/Swiss-Prot
      Q92572
      Conserved Domains (1) summary
      cl02092
      Location:180
      Clat_adaptor_s; Clathrin adaptor complex small chain
    4. NM_001318091.1NP_001305020.1  AP-3 complex subunit sigma-1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC026449, BC000804, BP368651, CN411347
      UniProtKB/Swiss-Prot
      Q92572
      Conserved Domains (1) summary
      COG5030
      Location:1128
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    5. NM_001318093.1NP_001305022.1  AP-3 complex subunit sigma-1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (5) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC010282, AC026449, BC000804, BI757703, BP368651, BX647735
      Consensus CDS
      CCDS83021.1
      UniProtKB/Swiss-Prot
      Q92572
      UniProtKB/TrEMBL
      F5H459
      Related
      ENSP00000446179.1, OTTHUMP00000236881, ENST00000506430.2, OTTHUMT00000370990
      Conserved Domains (1) summary
      COG5030
      Location:1148
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    6. NM_001318094.1NP_001305023.1  AP-3 complex subunit sigma-1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AC026449, BC000804, BP368651, BX394598, BX647735
      UniProtKB/Swiss-Prot
      Q92572
      Conserved Domains (1) summary
      COG5030
      Location:1116
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      115841606..115914081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009025.1XP_016864514.1  AP-3 complex subunit sigma-1 isoform X2

    2. XM_017009024.2XP_016864513.2  AP-3 complex subunit sigma-1 isoform X1

      Conserved Domains (1) summary
      COG5030
      Location:1148
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
    3. XM_011543136.3XP_011541438.3  AP-3 complex subunit sigma-1 isoform X1

      Related
      ENSP00000491430.1, ENST00000640413.1
      Conserved Domains (1) summary
      COG5030
      Location:1148
      APS2; Clathrin adaptor complex, small subunit [Intracellular trafficking and secretion]
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