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Appl1 Gene Detail
Summary
  • Symbol
    Appl1
  • Name
    adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
  • Synonyms
    2900057D21Rik, 7330406P05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920243
    NCBI Gene: 72993
  • Gene Overview
    MyGene.info: APPL1
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:26918986-26971205 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 16.09 cM, cytoband B
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    238 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920243
protein coding gene Chr14:26918986-26971232 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021087
protein coding gene Chr14:19907489-19961396 (-)
A/J MGP_AJ_G0021036
protein coding gene Chr14:19117891-19172986 (-)
AKR/J MGP_AKRJ_G0021013
protein coding gene Chr14:20161837-20214337 (-)
BALB/cJ MGP_BALBcJ_G0021039
protein coding gene Chr14:19232818-19287031 (-)
C3H/HeJ MGP_C3HHeJ_G0020823
protein coding gene Chr14:20021981-20072723 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021472
protein coding gene Chr14:20728401-20795248 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019035
protein coding gene Chr14:19262780-19322307 (-)
CAST/EiJ MGP_CASTEiJ_G0020347
protein coding gene Chr14:19648614-19708369 (-)
CBA/J MGP_CBAJ_G0020789
protein coding gene Chr14:21557566-21615010 (-)
DBA/2J MGP_DBA2J_G0020912
protein coding gene Chr14:19206604-19258840 (-)
FVB/NJ MGP_FVBNJ_G0020895
protein coding gene Chr14:19164924-19218383 (-)
LP/J MGP_LPJ_G0020980
protein coding gene Chr14:20172025-20244918 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020921
protein coding gene Chr14:20916014-20988188 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021505
protein coding gene Chr14:19926779-19985382 (-)
PWK/PhJ MGP_PWKPhJ_G0020096
protein coding gene Chr14:18602389-18656884 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019919
protein coding gene Chr14:19411693-19477595 (-)
WSB/EiJ MGP_WSBEiJ_G0020403
protein coding gene Chr14:19970221-20024843 (-)



Homology
more
  • Human Ortholog
    APPL1, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    APPL1, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    APPL, DIP13alpha, MODY14
  • Links
    NCBI Gene ID: 26060
    neXtProt AC: NX_Q9UKG1
    UniProt: Q9UKG1

  • Chr Location
    3p14.3; chr3:57227737-57273471 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human APPL1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 4 alleles in 5 genetic backgrounds
    11 phenotypes from multigenic genotypes
    12 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 null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance.
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
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
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 72993 NCBI Gene Model | MGI Sequence Detail 52220 C57BL/6J ±  kb
transcript NM_145221 RefSeq | MGI Sequence Detail 6961 C57BL/6  
polypeptide Q8K3H0 UniProt | EBI | MGI Sequence Detail 707 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 18
    cDNA 18

    Microarray probesets 8
Other
Accession IDs
less
MGI:1925392, MGI:2145674, MGI:2145804, MGI:2145845, MGI:2145880
References
more
  • Summaries
    All 53
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 12
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:240104 Jiang X, et al., APPL1 prevents pancreatic beta cell death and inflammation by dampening NFkappaB activation in a mouse model of type 1 diabetes. Diabetologia. 2017 Mar;60(3):464-474

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
12/04/2018
MGI 6.13
The Jackson Laboratory