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

Gene ID: 231855, updated on 27-Nov-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
Acts upstream of or within several processes, including late endosome to Golgi transport; lysosomal protein catabolic process; and vacuole organization. Is active in lysosome. 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, Nov 2024]
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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See Ap5z1 in Genome Data Viewer
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. Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1. Pierga A, et al. PLoS Biol, 2023 Oct. PMID 37871017, Free PMC Article
  3. The fifth adaptor protein complex. Hirst J, et al. PLoS Biol, 2011 Oct. PMID 22022230, Free PMC Article
  4. 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
  5. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article

See all (21) 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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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 double-strand break repair via homologous recombination ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endosomal transport ISO
Inferred from Sequence Orthology
more info
  
involved_in endosomal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 lysosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in late endosome NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in lysosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
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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