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Ap3d1 Gene Detail
Summary
  • Symbol
    Ap3d1
  • Name
    adaptor-related protein complex 3, delta 1 subunit
  • Synonyms
    Bolvr, mBLVR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:107734
    NCBI Gene: 11776
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:80542790-80578098 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    561 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107734
 protein coding gene Chr10:80542790-80578137 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017516
 protein coding gene Chr10:81347030-81384464 (-)
A/J MGP_AJ_G0017494
 protein coding gene Chr10:78497199-78533087 (-)
AKR/J MGP_AKRJ_G0017455
 protein coding gene Chr10:80653105-80687865 (-)
BALB/cJ MGP_BALBcJ_G0017456
 protein coding gene Chr10:78712146-78747040 (-)
C3H/HeJ MGP_C3HHeJ_G0017279
 protein coding gene Chr10:80731715-80769579 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017910
 protein coding gene Chr10:84154125-84193886 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015599
 protein coding gene Chr10:74704880-74742060 (-)
CAST/EiJ MGP_CASTEiJ_G0016846
 protein coding gene Chr10:80953640-80993963 (-)
CBA/J MGP_CBAJ_G0017251
 protein coding gene Chr10:87423644-87462795 (-)
DBA/2J MGP_DBA2J_G0017357
 protein coding gene Chr10:77695106-77731007 (-)
FVB/NJ MGP_FVBNJ_G0017351
 protein coding gene Chr10:76917449-76959678 (-)
LP/J MGP_LPJ_G0017428
 protein coding gene Chr10:81815328-81850442 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017377
 protein coding gene Chr10:89343305-89381299 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017951
 protein coding gene Chr10:80638437-80675187 (-)
PWK/PhJ MGP_PWKPhJ_G0016627
 protein coding gene Chr10:77583954-77619468 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016417
 protein coding gene Chr10:79591445-79627746 (-)
WSB/EiJ MGP_WSBEiJ_G0016906
 protein coding gene Chr10:80678583-80715081 (-)



Homology
more
  • Human Ortholog
    AP3D1, adaptor related protein complex 3 subunit delta 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AP3D1, adaptor related protein complex 3 subunit delta 1
  • Synonyms
    ADTD, hBLVR, HPS10
  • Links
    NCBI Gene ID: 8943
    neXtProt AC: NX_O14617
    UniProt: O14617

  • Chr Location
    19p13.3; chr19:2100988-2164616 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Ap3d1 mouse models; 1 with human AP3D1 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 4 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    54 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.
Mutant mice show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects and model Hermansky-Pudlak storage pool deficiency syndrome.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    60
  • GO References
    21
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
    746
  • Tissues
    27
  • cDNA Data
    229
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020198 Ensembl Gene Model | MGI Sequence Detail 35309 C57BL/6J ±  kb
    transcript ENSMUST00000020420 Ensembl | MGI Sequence Detail 4805 Not Applicable  
    polypeptide ENSMUSP00000020420 Ensembl | MGI Sequence Detail 1199 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 230
      cDNA 229
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12227, MGD-MRK-36310, MGI:2143455, MGI:96979
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 21
      Phenotypes 54
    • Earliest
      J:5511 Lane PW, et al., Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. J Hered. 1974 Nov-Dec;65(6):362-4
    • Latest
      J:348149 Jain S, et al., Adaptor protein-3 produces synaptic vesicles that release phasic dopamine. Proc Natl Acad Sci U S A. 2023 Oct 17;120(42):e2309843120
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory