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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
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:142449699-142464465 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 81.53 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    518 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924908
 protein coding gene Chr5:142448960-142464471 (+)
129S1/SvImJ ENSMUSG00200041726
 protein coding gene Chr5:136319935-136334693 (+)
A/J ENSMUSG00195039926
 protein coding gene Chr5:135960862-135975630 (+)
AKR/J ENSMUSG00220021159
 protein coding gene Chr5:135197274-135212030 (+)
BALB/cJ ENSMUSG00180031532
 protein coding gene Chr5:136062958-136077725 (+)
C3H/HeJ ENSMUSG00175044560
 protein coding gene Chr5:137988599-138003365 (+)
C57BL/6NJ ENSMUSG00215034080
 protein coding gene Chr5:135897077-135911843 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027960
 protein coding gene Chr5:135194168-135209964 (+)
CAST/EiJ ENSTCUG00005026115
 protein coding gene Chr5:135340677-135355781 (+)
CBA/J ENSMUSG00210022762
 protein coding gene Chr5:136789850-136804708 (+)
DBA/2J ENSMUSG00185051337
 protein coding gene Chr5:139796721-139811477 (+)
FVB/NJ ENSMUSG00205037929
 protein coding gene Chr5:135619258-135634027 (+)
JF1/MsJ ENSUMUG00000036366
 protein coding gene Chr5:142667144-142682324 (+)
LP/J ENSMUSG00230022935
 protein coding gene Chr5:143923754-143938510 (+)
NOD/ShiLtJ ENSMUSG00190031663
 protein coding gene Chr5:135752741-135767510 (+)
NZO/HlLtJ ENSMUSG00225022418
 protein coding gene Chr5:151392612-151407378 (+)
PWK/PhJ ENSLUMG00010018583
 protein coding gene Chr5:134381235-134396415 (+)
SPRET/EiJ ENSMSPG00010024544
 protein coding gene Chr5:137999847-138014023 (+)
WSB/EiJ ENSIUOG00005035233
 protein coding gene Chr5:138281582-138296341 (+)



Homology
more
  • Human Ortholog
    AP5Z1, adaptor related protein complex 5 subunit zeta 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AP5Z1, adaptor related protein complex 5 subunit zeta 1
  • Synonyms
    KIAA0415, SPG48, zeta
  • Links
    NCBI Gene ID: 9907
    UniProt: O43299

  • Chr Location
    7p22.1; chr7:4775615-4794397 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ap5z1 mouse models; 2 with human AP5Z1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    15 phenotypes from 1 allele in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    10 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    33
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    597
  • cDNA Data
    67
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 41
      Diseases 1
      Gene Ontology 10
      Phenotypes 10
    • 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:382892 Mai X, et al., Structural basis for membrane remodeling by the AP5-SPG11-SPG15 complex. Nat Struct Mol Biol. 2025 Aug;32(8):1334-1346
    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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    Send questions and comments to User Support.     		last database update
    09/15/2026
    MGI 6.29     		The Jackson Laboratory