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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
Location & Maps
more
  • Sequence Map
    Chr14:26918988-26971232 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      52245 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 16.09 cM, cytoband B
  • Mapping Data
    3 experiments
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: HomoloGene, HGNC
  • Synonyms
    APPL, DIP13alpha, MODY14
  • Links
    NCBI Gene ID: 26060
    neXtProt AC: NX_Q9UKG1

  • Chr Location
    3p14.3; chr3:57227737-57273471 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human APPL1 associations

Human Disease Mouse Models
       Maturity-Onset Diabetes of the Young, Type 14; MODY14   OMIM: 616511
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
    11 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
    14
  • Gene trapped
    8
  • Targeted
    5
  • Transgenic
    1
  • Incidental Mutations
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
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016350 VEGA Gene Model | MGI Sequence Detail 52245 C57BL/6J ±  kb
transcript OTTMUST00000039316 VEGA | MGI Sequence Detail 7642 Not Applicable  
polypeptide OTTMUSP00000017569 VEGA | MGI Sequence Detail 707 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    238 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 17
    cDNA 17

    Microarray probesets 8
Other
Accession IDs
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MGI:1925392, MGI:2145674, MGI:2145804, MGI:2145845, MGI:2145880
References
more
  • Summaries
    All 44
    Developmental Gene Expression 2
    Gene Ontology 2
    Phenotypes 11
  • 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:227340 Tan Y, et al., Appl1 and Appl2 are Expendable for Mouse Development But Are Essential for HGF-Induced Akt Activation and Migration in Mouse Embryonic Fibroblasts. J Cell Physiol. 2015 Oct 7;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory