Adaptor Protein, Phosphotyrosine Interaction, PH Domain, and Leucine Zipper-Containing Protein 1

Alternative Names

  • APPL1
  • Adaptor Protein Containing PH Domain, PTB Domain, and Leucine Zipper Motif 1
  • APPL
  • DIP13-Alpha
  • AKT2 Interactor

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

604299

NCBI Gene ID

26060

Uniprot ID

Q9UKG1

Length

45,743 bases

No. of Exons

23

Protein Name

DCC-interacting protein 13-alpha

Molecular Mass

79663 Da

Amino Acid Count

709

Genomic Location

chr3:57,227,729-57,273,471

Gene Map Locus
3p14.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012096.3:c.2030A>TQatarNC_000003.12:g.57269587A>TUncertain SignificanceType 2 Diabetes MellitusNG_047003.1:g.46851A>T; NM_012096.3:c.2030A>T; NP_036228.1:p.Asn677Ile
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