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Ap5z1 Gene Detail
Summary
  • Symbol
    Ap5z1
  • Name
    adaptor-related protein complex 5, zeta 1 subunit
  • Synonyms
    C330006K01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924908
    NCBI Gene: 231855
Location & Maps
more
  • Sequence Map
    Chr5:142463944-142478710 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14767 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 81.53 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    AP5Z1, adaptor related protein complex 5 zeta 1 subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AP5Z1, adaptor related protein complex 5 zeta 1 subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    KIAA0415, SPG48, zeta
  • Links
    NCBI Gene ID: 9907
    neXtProt AC: NX_O43299

  • Chr Location
    7p22.2; chr7:4775631-4794395 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human AP5Z1 associations

Human Disease Mouse Models
       Spastic Paraplegia 48, Autosomal Recessive; SPG48   OMIM: 613647
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotype references
  • All Mutations and Alleles
    10
  • Gene trapped
    9
  • Targeted
    1
  • Incidental Mutations
    APF
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054867 VEGA Gene Model | MGI Sequence Detail 14767 C57BL/6J ±  kb
transcript OTTMUST00000135949 VEGA | MGI Sequence Detail 3689 Not Applicable  
polypeptide OTTMUSP00000071853 VEGA | MGI Sequence Detail 807 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    50 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000031470 AP-5 complex subunit zeta-1
  • InterPro Domains
    IPR028222 AP-5 complex subunit zeta-1
    IPR016024 Armadillo-type fold
Molecular
Reagents
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  • All nucleic 67
    cDNA 67

    Microarray probesets 7
References
more
  • Summaries
    All 29
    Gene Ontology 3
    Phenotypes 5
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory