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Gene: APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1) Homo sapiens
Symbol: APPL1
Name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Description: Exhibits several functions, including beta-tubulin binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of glucose import; and positive regulation of melanin biosynthetic process. Localizes to several cellular components, including the cytosol; endosome; and vesicle membrane. Implicated in maturity-onset diabetes of the young type 14.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 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; AKT2 interactor; APPL; DCC-interacting protein 13-alpha; dip13-alpha; DIP13alpha; MODY14; signaling adaptor protein DIP13alpha
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38357,227,729 - 57,273,471 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37357,261,765 - 57,307,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,236,805 - 57,282,539 (+)NCBINCBI36hg18NCBI36
Celera357,227,340 - 57,273,073 (+)NCBI
Cytogenetic Map3p14.3NCBI
HuRef357,310,967 - 57,356,664 (+)NCBIHuRef
CHM1_1357,211,913 - 57,257,646 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on APPL1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1607055
Created: 2007-04-29
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.