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    APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 [ Homo sapiens (human) ]

    Gene ID: 26060, updated on 16-Aug-2021

    Summary

    Official Symbol
    APPL1provided by HGNC
    Official Full Name
    adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1provided by HGNC
    Primary source
    HGNC:HGNC:24035
    See related
    Ensembl:ENSG00000157500 MIM:604299
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APPL; MODY14; DIP13alpha
    Summary
    The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.2), ovary (RPKM 12.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See APPL1 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (57227729..57273471)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57261757..57307499)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor D Neighboring gene uncharacterized LOC105377101 Neighboring gene HESX homeobox 1 Neighboring gene uncharacterized LOC105377102 Neighboring gene ankyrin repeat and SOCS box containing 14 Neighboring gene dynein axonemal heavy chain 12 Neighboring gene RNA, U6 small nuclear 1181, pseudogene Neighboring gene ring finger protein 7 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase B binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein kinase B binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adiponectin-activated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hepatocyte growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in insulin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cytokine production involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macropinocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of melanin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of fibroblast migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of toll-like receptor 4 signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early phagosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in intracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in macropinosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DCC-interacting protein 13-alpha
    Names
    AKT2 interactor
    adapter protein containing PH domain, PTB domain and leucine zipper motif 1
    adaptor protein containing pH domain, PTB domain and leucine zipper motif 1
    adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
    dip13-alpha
    signaling adaptor protein DIP13alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047003.1 RefSeqGene

      Range
      4993..50735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012096.3NP_036228.1  DCC-interacting protein 13-alpha

      See identical proteins and their annotated locations for NP_036228.1

      Status: REVIEWED

      Source sequence(s)
      AC093928, AF169797, BC028599
      Consensus CDS
      CCDS2882.1
      UniProtKB/Swiss-Prot
      Q9UKG1
      Related
      ENSP00000288266.3, ENST00000288266.8
      Conserved Domains (3) summary
      cd07631
      Location:20234
      BAR_APPL1; The Bin/Amphiphysin/Rvs (BAR) domain of Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing 1
      cd13158
      Location:490625
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:252376
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      57227729..57273471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533583.3XP_011531885.1  DCC-interacting protein 13-alpha isoform X1

      Conserved Domains (3) summary
      cd07631
      Location:3217
      BAR_APPL1; The Bin/Amphiphysin/Rvs (BAR) domain of Adaptor protein, Phosphotyrosine interaction, PH domain and Leucine zipper containing 1
      cd13158
      Location:473608
      PTB_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif (APPL; also called DCC-interacting protein (DIP)-13alpha) Phosphotyrosine-binding (PTB) domain
      cd13247
      Location:235359
      BAR-PH_APPL; Adaptor protein containing PH domain, PTB domain, and Leucine zipper motif Bin1/amphiphysin/Rvs167 (BAR)-Pleckstrin homology (PH) domain
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