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

Gene ID: 11782, updated on 5-Mar-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 (31) 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 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
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 NAS
Non-traceable Author Statement
more info
 PubMed 
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
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

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