ENSG00000157500


Homo sapiens

Features
Gene ID: ENSG00000157500
  
Biological name :APPL1
  
Synonyms : adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 / APPL1 / Q9UKG1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p14.3
Gene start: 57227737
Gene end: 57273468
  
Corresponding Affymetrix probe sets: 218158_s_at (Human Genome U133 Plus 2.0 Array)   222538_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000288266
Ensembl peptide - ENSP00000419644
Ensembl peptide - ENSP00000406095
NCBI entrez gene - 26060     See in Manteia.
OMIM - 604299
RefSeq - NM_012096
RefSeq - XM_011533583
RefSeq Peptide - NP_036228
swissprot - C9K0C4
swissprot - Q9UKG1
swissprot - C9JAB0
Ensembl - ENSG00000157500
  
Related genetic diseases (OMIM): 616511 - {Maturity-onset diabetes of the young, type 14}, 616511
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 appl1ENSDARG00000060734Danio rerio
 APPL1ENSGALG00000005527Gallus gallus
 Appl1ENSMUSG00000040760Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
APPL2 / Q8NEU8 / adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2ENSG0000013604450


Protein motifs (from Interpro)
Interpro ID Name
 IPR001849  Pleckstrin homology domain
 IPR006020  PTB/PI domain
 IPR011993  PH-like domain superfamily
 IPR027267  AH/BAR domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0008283 cell proliferation IDA
 biological_processGO:0008286 insulin receptor signaling pathway TAS
 biological_processGO:0046324 regulation of glucose import IMP
 biological_processGO:0097192 extrinsic apoptotic signaling pathway in absence of ligand TAS
 biological_processGO:1903076 regulation of protein localization to plasma membrane IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0010008 endosome membrane IDA
 cellular_componentGO:0012506 vesicle membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016581 NuRD complex IDA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0043422 protein kinase B binding IPI


Pathways (from Reactome)
Pathway description
via Dependence Receptors in the absence of ligand


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000187323 DCC / P43146 / DCC netrin 1 receptor  / complex / reaction
 ENSG00000132906 CASP9 / P55211 / caspase 9  / reaction / complex






 

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