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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:26640943-26692567 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 16.09 cM, cytoband B
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    975 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 Chr14:26640943-26693189 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APPL1, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
  • Synonyms
    APPL, DIP13alpha, MODY14
  • Links
    NCBI Gene ID: 26060
    neXtProt AC: NX_Q9UKG1
    UniProt: Q9UKG1

  • Chr Location
    3p14.3; chr3:57227726-57278105 (+)  GRCh38
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
less
  • Phenotype Summary
    21 phenotypes from 4 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    18 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 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
less
  • All GO Annotations
    74
  • GO References
    12
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
    752
  • Tissues
    11
  • cDNA Data
    17
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72993 NCBI Gene Model | MGI Sequence Detail 51625 C57BL/6J ±  kb
    transcript NM_145221 RefSeq | MGI Sequence Detail 6933 C57BL/6  
    polypeptide Q8K3H0 UniProt | EBI | MGI Sequence Detail 707 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 18
      Primer pair 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1925392, MGI:2145674, MGI:2145804, MGI:2145845, MGI:2145880
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 2
      Gene Ontology 12
      Phenotypes 18
    • 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:344659 Mukherjee S, et al., Ube4A maintains metabolic homeostasis and facilitates insulin signaling in vivo. Mol Metab. 2023 Jul 8;75:101767
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory