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Gene: APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1) Homo sapiens
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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
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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References - uncurated

Genomics

Comparative Map Data
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on APPL1
Alliance Gene
NCBI 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



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