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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:142463944-142478710 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 81.53 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    50 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924908
protein coding gene Chr5:142463207-142478716 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030311
protein coding gene Chr5:147693853-147715394 (+)
A/J MGP_AJ_G0030280
protein coding gene Chr5:141378495-141394489 (+)
AKR/J MGP_AKRJ_G0030212
protein coding gene Chr5:145787017-145802081 (+)
BALB/cJ MGP_BALBcJ_G0030297
protein coding gene Chr5:142624602-142639049 (+)
C3H/HeJ MGP_C3HHeJ_G0030008
protein coding gene Chr5:146610443-146626008 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030742
protein coding gene Chr5:153111008-153128480 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027960
protein coding gene Chr5:135194168-135209964 (+)
CAST/EiJ MGP_CASTEiJ_G0029413
protein coding gene Chr5:146060979-146076137 (+)
CBA/J MGP_CBAJ_G0029978
protein coding gene Chr5:159360255-159381701 (+)
DBA/2J MGP_DBA2J_G0030128
protein coding gene Chr5:141154655-141169038 (+)
FVB/NJ MGP_FVBNJ_G0030083
protein coding gene Chr5:140343910-140358591 (+)
LP/J MGP_LPJ_G0030214
protein coding gene Chr5:148316310-148335484 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030114
protein coding gene Chr5:161879566-161894899 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030782
protein coding gene Chr5:145640852-145655366 (+)
PWK/PhJ MGP_PWKPhJ_G0029128
protein coding gene Chr5:140220557-140235595 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028964
protein coding gene Chr5:143377532-143394834 (+)
WSB/EiJ MGP_WSBEiJ_G0029487
protein coding gene Chr5:146434691-146452994 (+)



Homology
more
  • Human Ortholog
    AP5Z1, adaptor related protein complex 5 subunit zeta 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AP5Z1, adaptor related protein complex 5 subunit zeta 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KIAA0415, SPG48, zeta
  • Links
    NCBI Gene ID: 9907
    neXtProt AC: NX_O43299
    UniProt: O43299

  • Chr Location
    7p22.1; chr7:4775617-4794395 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ap5z1 mouse models; 1 with human AP5Z1 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit late-onset gait abnormalities, axon degeneration in the corticospinal tract, altered Golgi apparatus morphology, and impaired autophagy with an increase of autophagosomes and autolysosomes and accumulation of intracellular waste in neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • cDNA Data
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039623 Ensembl Gene Model | MGI Sequence Detail 14767 C57BL/6J ±  kb
    transcript ENSMUST00000038699 Ensembl | MGI Sequence Detail 3689 Not Applicable  
    polypeptide ENSMUSP00000041863 Ensembl | MGI Sequence Detail 807 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 68
      cDNA 68

      Microarray probesets 7
    References
    more
    • Summaries
      All 32
      Diseases 1
      Gene Ontology 3
      Phenotypes 8
    • 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:283611 Khundadze M, et al., A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five. Neurobiol Dis. 2019 Jul;127:419-431

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    last database update
    10/13/2020
    MGI 6.16
    The Jackson Laboratory