APPL1 - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Gene

Homo sapiens

Also known as APPL; MODY14; DIP13alpha

Gene ID: 26060 | Gene type: protein coding

About APPL1

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:57,227,729-57,273,471 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues, 28 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 14.2), ovary (RPKM 12.3) and 25 other tissues.

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]

APPL1 Products(1)

mRNA	Protein	Name
NM_012096.3	NP_036228.1	DCC-interacting protein 13-alpha

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-tubulin binding	IDA IDA: Inferred from direct assay	26583432	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17502098	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	18034774	GOA
enables phosphatidylserine binding	IDA IDA: Inferred from direct assay	18034774	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10490823	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	18034774	GOA
enables protein kinase B binding	IPI IPI: Inferred from physical interaction	17848569	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	15016378	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adiponectin-activated signaling pathway	IMP IMP: Inferred from mutant phenotype	19661063	GOA
involved in insulin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	26073777	GOA
involved in maintenance of synapse structure	IDA IDA: Inferred from direct assay	21236345	GOA
involved in maintenance of synapse structure	IMP IMP: Inferred from mutant phenotype	21236345	GOA
involved in positive regulation of D-glucose import	IMP IMP: Inferred from mutant phenotype	24879834	GOA
involved in positive regulation of melanin biosynthetic process	IMP IMP: Inferred from mutant phenotype	21291857	GOA
involved in protein import into nucleus	IDA IDA: Inferred from direct assay	26583432	GOA
involved in regulation of D-glucose import	IMP IMP: Inferred from mutant phenotype	17848569	GOA
involved in regulation of G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	15016378	GOA
involved in regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	17848569	GOA
involved in transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	26583432	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19433865	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	18034774	GOA
located in cytosol	IDA IDA: Inferred from direct assay	17848569	GOA
located in early endosome	IDA IDA: Inferred from direct assay	21645192	GOA
located in endosome	IDA IDA: Inferred from direct assay	26583432	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	15016378	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	21236345	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	21236345	GOA
located in intracellular vesicle	IDA IDA: Inferred from direct assay	21291857	GOA
located in membrane	IDA IDA: Inferred from direct assay	18034774	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15016378	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18034774	GOA
located in vesicle membrane	IDA IDA: Inferred from direct assay	17848569	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

APPL1 Protein Structure

PID

0
200
400
600
709 a.a.

Protein Preferred Names

Protein Names

DCC-interacting protein 13-alpha

AKT2 interactor

Related Diseases

Diseases

Alias

Maturity-Onset Diabetes Of The Young, Type 14

Maturity-Onset Diabetes Of The Young Type 14	MODY14
Maturity-Onset Diabetes Of The Young 14	Diabetes Of The Young, Maturity-Onset, Type 14

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Maturity-Onset Diabetes Of The Young, Type 13

Maturity-Onset Diabetes Of The Young Type 13	MODY13
Mody Type 13	Mody, Type 13
Maturity-Onset Diabetes Of The Young 13	Diabetes Of The Young, Maturity-Onset, Type 13

Maturity-Onset Diabetes Of The Young, Type 11

Maturity-Onset Diabetes Of The Young Type 11	MODY11
Maturity-Onset Diabetes Of The Young 11	Mody-11
Mody Type 11	Diabetes Of The Young, Maturity-Onset, Type 11

Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction

Maturity-Onset Diabetes Of The Young Type 8	MODY8
Dped	Maturity-Onset Diabetes Of The Young, Type Viii
Mody Type 8	Diabetes And Pancreatic Exocrine Dysfunction
Diabetes-Pancreatic Exocrine Dysfunction Syndrome	Diabetes And Pancreatic Exocrine
Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction	Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction
Diabetes And Pancreatic Exocrine Dysfunction Syndrome	Mody-8
Diabetes Of The Young, Maturity-Onset, Type 8

Maturity-Onset Diabetes Of The Young, Type 7

Maturity-Onset Diabetes Of The Young Type 7	MODY7
Maturity-Onset Diabetes Of The Young, Type Vii	Maturity-Onset Diabetes Of The Young 7
Mody-7	Mody Type 7
Diabetes Of The Young, Maturity-Onset, Type 7

Maturity-Onset Diabetes Of The Young, Type 9

Maturity-Onset Diabetes Of The Young Type 9	MODY9
Maturity-Onset Diabetes Of The Young, Type Ix	Maturity-Onset Diabetes Of The Young 9
Mody-9	Mody Type 9
Diabetes Of The Young, Maturity-Onset, Type 9

Maturity-Onset Diabetes Of The Young, Type 10

Maturity-Onset Diabetes Of The Young Type 10	MODY10
Maturity-Onset Diabetes Of The Young 10	Mody-10
Mody Type 10	Diabetes Of The Young, Maturity-Onset, Type 10

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome	Oculocerebrorenal Syndrome
OCRL	Oculocerebrorenal Syndrome Of Lowe
Ocrl1	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Lowe Disease	Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
Cerebrooculorenal Syndrome	Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Lowe Oculo-Cerebro-Renal Dystrophy	Lowe Oculo-Cerebro-Renal Syndrome
Lowe Oculocerebrorenal Dystrophy	Low
Chromosome 11p Deletion Syndrome	Oculocerebrorenal Dystrophy
Cerebro-Oculorenal Dystrophy	Ocrl1 - [Oculocerebrorenal Syndrome]
Lowe-Terrey-Maclachlan Syndrome	Renal-Oculocerebrodystrophy

Maturity-Onset Diabetes Of The Young, Type 6

MODY6	Maturity-Onset Diabetes Of The Young Type 6
Maturity-Onset Diabetes Of The Young 6	Mody Type 6
Mody, Type 6	Mody-6
Diabetes Of The Young, Maturity-Onset, Type 6

Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1	MODY1
Mild Juvenile Diabetes Mellitus	Mody, Type I
Diabetes Mellitus Type 2	Mody Type 1
Mody, Type 1	Maturity-Onset Diabetes Of The Young 1
Mody-1	Diabetes Of The Young, Maturity-Onset, Type 1

Maturity-Onset Diabetes Of The Young, Type 2

Maturity-Onset Diabetes Of The Young Type 2	MODY2
Mody Glucokinase-Related	Mody Type 2
Mody, Type 2	Mody, Glucokinase-Related
Mody, Type Ii	Maturity-Onset Diabetes Of The Young 2
Mody-2	Diabetes Of The Young, Maturity-Onset, Type 2
Diabetes Mellitus Autosomal Dominant Type Ii

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diabetes Mellitus

Diabetes

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00867	APPL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	APPL1	VGNC	VGNC:38012
Rattus norvegicus	APPL1	RGD	RGD:1309388
Bos taurus	APPL1	VGNC	VGNC:26040
Mus musculus	APPL1	MGD	MGI:1920243
Felis catus	APPL1	VGNC	VGNC:59856

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