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

Gene ID: 26060, updated on 9-Sep-2018

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; Vega:OTTHUMG00000133756
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

Genomic context

See APPL1 in Genome Data Viewer
Location:
3p14.3
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (57227737..57273471)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57261765..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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Caspase activation via extrinsic apoptotic signalling pathway, organism-specific biosystem (from REACTOME)
    Caspase activation via extrinsic apoptotic signalling pathway, organism-specific biosystemKnown as the "death receptor pathway" the extrinsic or caspase 8/10 dependent pathway is activated by ligand binding. The "death receptors" are specialized cell-surface receptors including Fas/CD95, ...
  • Colorectal cancer, organism-specific biosystem (from KEGG)
    Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Colorectal cancer, conserved biosystem (from KEGG)
    Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Coregulation of Androgen receptor activity, organism-specific biosystem
    Coregulation of Androgen receptor activity
  • Follicle Stimulating Hormone (FSH) signaling pathway, organism-specific biosystem (from WikiPathways)
    Follicle Stimulating Hormone (FSH) signaling pathway, organism-specific biosystemThe Follicle Stimulating Hormone (FSH) is an anterior pituitary gonadotropin belonging to the family of glycoprotein hormones that includes thyroid stimulating hormone (TSH), Leutinizing Hormone (LH)...
  • Ligand-independent caspase activation via DCC, organism-specific biosystem (from REACTOME)
    Ligand-independent caspase activation via DCC, organism-specific biosystemIn the presence of Netrin1, DCC and UNC5 generate attractive and repulsive signals to growing axons. In the absence of Netrin-1, DCC induces cell death signaling initiated via caspase cleavage of DCC...
  • Longevity regulating pathway, organism-specific biosystem (from KEGG)
    Longevity regulating pathway, organism-specific biosystemRegulation of longevity depends on genetic and environmental factors. Caloric restriction (CR), that is limiting food intake, is recognized in mammals as the best characterized and most reproducible ...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase B binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase B binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic apoptotic signaling pathway in absence of ligand TAS
Traceable Author Statement
more info
 
insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of glucose import IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with NuRD complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with NuRD complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
early endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    5001..50735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012096.2NP_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, OTTHUMP00000165214, ENST00000288266.7, OTTHUMT00000258196
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    57227737..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 (4) 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
    pfam00169
    Location:263358
    PH; PH domain
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