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    Ap5z1 adaptor-related protein complex 5, zeta 1 subunit [ Mus musculus (house mouse) ]

    Gene ID: 231855, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Ap5z1provided by MGI
    Official Full Name
    adaptor-related protein complex 5, zeta 1 subunitprovided by MGI
    Primary source
    MGI:MGI:1924908
    See related
    Ensembl:ENSMUSG00000039623 AllianceGenome:MGI:1924908
    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
    C330006K01Rik
    Summary
    Predicted to be involved in double-strand break repair via homologous recombination and endosomal transport. Predicted to act upstream of or within DNA repair and protein transport. Predicted to be located in cytoplasm and nuclear speck. Predicted to be part of AP-5 adaptor complex. Used to study hereditary spastic paraplegia 48. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia and hereditary spastic paraplegia 48. Orthologous to human AP5Z1 (adaptor related protein complex 5 subunit zeta 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 16.1), spleen adult (RPKM 12.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 G2; 5 81.53 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (142448960..142464471)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (142463207..142478716)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31127 Neighboring gene forkhead box K1 Neighboring gene predicted gene, 54310 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:142915875-142916058 Neighboring gene STARR-positive B cell enhancer ABC_E4804 Neighboring gene STARR-positive B cell enhancer ABC_E2771 Neighboring gene STARR-seq mESC enhancer starr_14747 Neighboring gene Ras association and DIL domains Neighboring gene predicted gene, 38732 Neighboring gene poly (A) polymerase beta (testis specific)

    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. A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five. Khundadze M, et al. Neurobiol Dis, 2019 Jul. PMID 30930081
    2. The fifth adaptor protein complex. Hirst J, et al. PLoS Biol, 2011 Oct. PMID 22022230, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    4. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1.
      Title: Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Homology

    Clone Names

    • KIAA0415, MGC117588

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within axon development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosomal transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within late endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 
    Component Evidence Code Pubs
    part_of AP-5 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    AP-5 complex subunit zeta-1
    Names
    adapter-related protein complex 5 zeta subunit
    adaptor-related protein complex 5 zeta subunit
    zeta5

    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_172725.2 → NP_766313.2  AP-5 complex subunit zeta-1

      See identical proteins and their annotated locations for NP_766313.2

      Status: VALIDATED

      Source sequence(s)
      AK152402, BY125380, CAAA01097582
      Consensus CDS
      CCDS39361.1
      UniProtKB/Swiss-Prot
      Q3U829, Q3UJJ0, Q63ZW8, Q8BS06, Q8C488
      UniProtKB/TrEMBL
      A0A0G2JFH9
      Related
      ENSMUSP00000041863.9, ENSMUST00000038699.13
      Conserved Domains (1) summary
      pfam14764
      Location:319 → 437
      SPG48; AP-5 complex subunit, vesicle trafficking

    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
      142448960..142464471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504680.5 → XP_006504743.1  AP-5 complex subunit zeta-1 isoform X2

      UniProtKB/TrEMBL
      B7ZMR5
      Conserved Domains (1) summary
      pfam14764
      Location:257 → 375
      SPG48; AP-5 complex subunit, vesicle trafficking

    2. XM_036165100.1 → XP_036020993.1  AP-5 complex subunit zeta-1 isoform X3

      Conserved Domains (1) summary
      pfam14764
      Location:319 → 437
      SPG48; AP-5 complex subunit, vesicle trafficking

    3. XM_006504679.3 → XP_006504742.1  AP-5 complex subunit zeta-1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JFH9
      Conserved Domains (1) summary
      pfam14764
      Location:317 → 435
      SPG48; AP-5 complex subunit, vesicle trafficking

    4. XM_006504681.5 → XP_006504744.1  AP-5 complex subunit zeta-1 isoform X4

      Conserved Domains (1) summary
      pfam14764
      Location:1 → 56
      SPG48; AP-5 complex subunit, vesicle trafficking
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3U829.1 GenPept UniProtKB/Swiss-Prot:Q3U829

    Gene LinkOut

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

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