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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
  • Gene Overview
    MyGene.info: AP3D1
Location & Maps
more
  • Sequence Map
    Chr10:80706978-80742211 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35234 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    AP3D1, adaptor related protein complex 3 delta 1 subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    AP3D1, adaptor related protein complex 3 delta 1 subunit
    Orthology source: HomoloGene
  • Synonyms
    ADTD, hBLVR
  • Links
    NCBI Gene ID: 8943
    neXtProt AC: NX_O14617

  • Chr Location
    19p13.3; chr19:2100988-2151620 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Ap3d1 mouse models

Human Disease Mouse Models
       Hermansky-Pudlak Syndrome 1; HPS1   OMIM: 203300 View 1 model
Hermansky-Pudlak Syndrome 2; HPS2   OMIM: 608233 View 1 model
Storage Pool Platelet Disease   OMIM: 185050 View 1 model
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
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  • Phenotype Summary
    41 phenotypes from 4 alleles in 8 genetic backgrounds
    3 phenotypes from multigenic genotypes
    44 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.
  • All Mutations and Alleles
    17
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    9
  • Spontaneous
    3
  • Targeted
    3
  • Genomic Mutations
    1 involving Ap3d1
  • Incidental Mutations
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
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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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020198 Ensembl Gene Model | MGI Sequence Detail 35234 C57BL/6J ±  kb
transcript ENSMUST00000020420 Ensembl | MGI Sequence Detail 4730 Not Applicable  
polypeptide ENSMUSP00000020420 Ensembl | MGI Sequence Detail 1199 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    73 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000004106 AP-3 complex subunit delta-1
  • InterPro Domains
    IPR017105 Adaptor protein complex AP-3, delta subunit
    IPR010474 AP-3 complex subunit delta-1
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
Molecular
Reagents
less
  • All nucleic 229
    cDNA 228
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-12227, MGD-MRK-36310, MGI:2143455, MGI:96979
References
more
  • Summaries
    All 74
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 10
    Phenotypes 44
  • 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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57

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
07/19/2016
MGI 6.04
The Jackson Laboratory