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Ap4m1 adaptor-related protein complex AP-4, mu 1 [ Mus musculus (house mouse) ]

Gene ID: 11781, updated on 12-May-2024

Summary

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Official Symbol
Ap4m1provided by MGI
Official Full Name
adaptor-related protein complex AP-4, mu 1provided by MGI
Primary source
MGI:MGI:1337063
See related
Ensembl:ENSMUSG00000019518 AllianceGenome:MGI:1337063
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ap4m4; 4930443L05Rik
Summary
Predicted to enable protein domain specific binding activity. Involved in protein targeting. Predicted to be located in Golgi apparatus; endosome; and membrane. Predicted to be part of AP-4 adaptor complex. Predicted to be active in cytoplasmic vesicle and trans-Golgi network. Is expressed in brain. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 50. Orthologous to human AP4M1 (adaptor related protein complex 4 subunit mu 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 32.8), ovary adult (RPKM 26.7) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ap4m1 in Genome Data Viewer
Location:
5 G2; 5 76.98 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (138170283..138178691)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (138172021..138180429)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene microRNA 106b Neighboring gene minichromosome maintenance complex component 7 Neighboring gene microRNA 93 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:138612151-138612338 Neighboring gene STARR-positive B cell enhancer ABC_E1693 Neighboring gene STARR-positive B cell enhancer ABC_E1694 Neighboring gene TATA-box binding protein associated factor 6 Neighboring gene STARR-seq mESC enhancer starr_14665 Neighboring gene canopy FGF signaling regulator 4 Neighboring gene metallo-beta-lactamase domain containing 1

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. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Verkerk AJ, et al. Am J Hum Genet, 2009 Jul. PMID 19559397, Free PMC Article
  2. Characterization of a fourth adaptor-related protein complex. Hirst J, et al. Mol Biol Cell, 1999 Aug. PMID 10436028, Free PMC Article
  3. AP-4, a novel protein complex related to clathrin adaptors. Dell'Angelica EC, et al. J Biol Chem, 1999 Mar 12. PMID 10066790
  4. Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4. Matsuda S, et al. Neuron, 2008 Mar 13. PMID 18341993
  5. Upregulation of μ3A Drives Homeostatic Plasticity by Rerouting AMPAR into the Recycling Endosomal Pathway. Steinmetz CC, et al. Cell Rep, 2016 Sep 6. PMID 27568566, Free PMC Article

See all (22) 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) 

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

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in Golgi to endosome transport ISO
Inferred from Sequence Orthology
more info
  
involved_in Golgi to lysosome transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Golgi to lysosome transport ISO
Inferred from Sequence Orthology
more info
  
involved_in autophagosome assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in intracellular protein transport ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within intracellular protein transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein targeting IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein targeting IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein targeting ISO
Inferred from Sequence Orthology
more info
  
involved_in protein targeting to lysosome ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
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
  
part_of clathrin adaptor complex IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network 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 mu-1
Names
AP-4 adapter complex mu subunit
AP-4 adaptor complex mu subunit
adapter-related protein complex 4 mu-1 subunit
adapter-related protein complex 4 subunit mu-1
adaptor-related protein complex 4 subunit mu-1
adaptor-related protein complex AP-4 mu4 subunit
mu subunit of AP-4
mu-ARP2
mu-adaptin-related protein 2
mu4
mu4-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_021392.4 → NP_067367.3  AP-4 complex subunit mu-1

    See identical proteins and their annotated locations for NP_067367.3

    Status: VALIDATED

    Source sequence(s)
    AF242858, BE627979, CJ159660
    Consensus CDS
    CCDS19794.1
    UniProtKB/Swiss-Prot
    Q9JKC7
    UniProtKB/TrEMBL
    Q8CD17
    Related
    ENSMUSP00000019662.5, ENSMUST00000019662.11
    Conserved Domains (2) summary
    cl02092
    Location:1 → 130
    Clat_adaptor_s; Clathrin adaptor complex small chain
    cd09253
    Location:175 → 449
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    138170283..138178691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006504551.3 → XP_006504614.1  AP-4 complex subunit mu-1 isoform X1

    UniProtKB/TrEMBL
    Q8CD17
    Conserved Domains (2) summary
    cd09253
    Location:189 → 463
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
    cd14838
    Location:3 → 155
    AP4_Mu_N; AP-4 complex subunit mu N-terminal domain

  2. XM_030254077.1 → XP_030109937.1  AP-4 complex subunit mu-1 isoform X2

    Conserved Domains (1) summary
    cd09253
    Location:47 → 321
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4

  3. XM_030254076.1 → XP_030109936.1  AP-4 complex subunit mu-1 isoform X2

    Conserved Domains (1) summary
    cd09253
    Location:47 → 321
    AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JKC7.1 GenPept UniProtKB/Swiss-Prot:Q9JKC7

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