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    Ap4s1 adaptor-related protein complex AP-4, sigma 1 [ Mus musculus (house mouse) ]

    Gene ID: 11782, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ap4s1provided by MGI
    Official Full Name
    adaptor-related protein complex AP-4, sigma 1provided by MGI
    Primary source
    MGI:MGI:1337065
    See related
    Ensembl:ENSMUSG00000020955 AllianceGenome:MGI:1337065
    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 adaptor-related protein complex 4 which mediates intracellular membrane trafficking along the endocytic and secretory transport pathways. This complex contains four subunits, beta, epsilon, mu, and sigma, and belongs to a family of five adapter protein complexes, including three clathrin-associated complexes and two non clathrin-associated complexes, that localize to different intracellular compartments and mediate membrane vesicle trafficking using distinct pathways. In humans, loss-of-function mutations in this gene have been linked to specific adapter complex 4 deficiency disorders including hereditary spastic paraplegia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 9.3), frontal lobe adult (RPKM 8.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ap4s1 in Genome Data Viewer
    Location:
    12 B3; 12 22.11 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (51708545..51785716)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (51680481..51738933)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_32104 Neighboring gene zyg-11 homolog A pseudogene Neighboring gene cochlin Neighboring gene striatin, calmodulin binding protein 3 Neighboring gene STARR-positive B cell enhancer ABC_E5328 Neighboring gene STARR-seq mESC enhancer starr_32110 Neighboring gene predicted gene, 22663 Neighboring gene HECT domain E3 ubiquitin protein ligase 1 Neighboring gene predicted gene 5785

    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
    • 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. Adaptor protein complexes and intracellular transport. Park SY, et al. Biosci Rep, 2014 Jul 29. PMID 24975939, Free PMC Article
    2. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hardies K, et al. Hum Mol Genet, 2015 Apr 15. PMID 25552650, Free PMC Article
    3. Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population. Wang H, et al. Mol Biol Rep, 2013 Nov. PMID 24065543
    4. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Fink JK. Acta Neuropathol, 2013 Sep. PMID 23897027, Free PMC Article
    5. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Abou Jamra R, et al. Am J Hum Genet, 2011 Jun 10. PMID 21620353, Free PMC Article

    See all (32) 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 (2) 

    Pathways from PubChem

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    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 MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within intracellular protein transport TAS
    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-4 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of AP-4 adaptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of AP-4 adaptor complex 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 trans-Golgi network NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AP-4 complex subunit sigma-1
    Names
    AP-4 adapter complex subunit sigma-1
    adapter-related protein complex 4 subunit sigma-1
    sigma4-adaptin

    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_001329698.1 → NP_001316627.1  AP-4 complex subunit sigma-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC159644, AI847561
      Conserved Domains (1) summary
      cl38905
      Location:3 → 105
      longin-like; Longin-like domains

    2. NM_001329699.1 → NP_001316628.1  AP-4 complex subunit sigma-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites in the 3' coding region, compared to variant 1, resulting in a novel 3' coding region and shorter 3' UTR. It encodes isoform 3 which has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC159644, AI847561
      UniProtKB/TrEMBL
      A0A1W2P708
      Related
      ENSMUSP00000151472.2, ENSMUST00000218820.2
      Conserved Domains (1) summary
      cl02092
      Location:1 → 128
      Clat_adaptor_s; Clathrin adaptor complex small chain

    3. NM_021710.4 → NP_068356.1  AP-4 complex subunit sigma-1 isoform 2

      See identical proteins and their annotated locations for NP_068356.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in the 3' coding region, compared to variant 1, resulting in a novel 3' coding region and longer 3' UTR. It encodes isoform 2 which has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI847561, AK005283, CD551689
      Consensus CDS
      CCDS36441.1
      UniProtKB/Swiss-Prot
      Q9WVL1
      Related
      ENSMUSP00000021338.9, ENSMUST00000021338.10
      Conserved Domains (1) summary
      cd14832
      Location:3 → 140
      AP4_sigma; AP-4 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_000078.7 Reference GRCm39 C57BL/6J

      Range
      51708545..51785716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515433.5 → XP_006515496.1  AP-4 complex subunit sigma-1 isoform X1

      See identical proteins and their annotated locations for XP_006515496.1

      Conserved Domains (1) summary
      cl38905
      Location:3 → 105
      longin-like; Longin-like domains

    2. XM_036157170.1 → XP_036013063.1  AP-4 complex subunit sigma-1 isoform X1

      Conserved Domains (1) summary
      cl38905
      Location:3 → 105
      longin-like; Longin-like domains
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WVL1.1 GenPept UniProtKB/Swiss-Prot:Q9WVL1

    Gene LinkOut

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

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