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

Also Known as APPL; MODY14; DIP13alpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26060

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	References	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	References	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	References	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

APPL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	APPL1	Q9UKG1	PNMA5	Homo sapiens	Q96PV4	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	PNMA5	Homo sapiens	Q96PV4	Y2H Array	32296183
Intra	APPL1	Q9UKG1	MAGEA9	Homo sapiens	P43362	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	RAB21	Homo sapiens	Q9UL25	Pull Down	17581628
Intra	APPL1	Q9UKG1	TP53BP2	Homo sapiens	Q05BL1	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	TP53BP2	Homo sapiens	Q05BL1	Y2H Array	32296183
Intra	APPL1	Q9UKG1	RTCB	Homo sapiens	Q9Y3I0	Validated Y2H	25814554
Intra	APPL1	Q9UKG1	RTCB	Homo sapiens	Q9Y3I0	Lumier	25814554
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Y2H Array	25416956
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Y2H Array	32296183
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	FARS2	Homo sapiens	O95363	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	FARS2	Homo sapiens	O95363	Y2H Array	25416956
Intra	APPL1	Q9UKG1	MEOX1	Homo sapiens	P50221	Y2H Prey Pooling	25416956
Intra	APPL1	Q9UKG1	EGFR	Homo sapiens	P00533	Protein Array	16273093
Intra	APPL1	Q9UKG1	DST	Homo sapiens	Q03001	Y2H Fragment Pooling	23414517
Intra	APPL1	Q9UKG1	ZNF830	Homo sapiens	Q96NB3	Anti Tag CoIP	33961781
Intra	APPL1	Q9UKG1	ZNF830	Homo sapiens	Q96NB3	Anti Tag CoIP	28514442
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Y2H	18034774
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Pull Down	17581628
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Y2H Array	32296183
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	SPR	17581628
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	IF	18034774
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	IF	18034774
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H	18034774
Intra	APPL1	Q9UKG1	APPL1	Homo sapiens	Q9UKG1	Y2H	17502098
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Anti Tag CoIP	35271311
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Array	32296183
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Array	25416956
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Anti Tag CoIP	33961781
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Pooling	16189514
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Array	31515488
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Anti Tag CoIP	18034774
Intra	APPL1	Q9UKG1	RHEBL1	Homo sapiens	Q8TAI7	Y2H Prey Pooling	25416956
Cross	APPL1	Q9UKG1	Adipor1	Mus musculus	Q91VH1	Y2H	16622416

Cross: Cross-species interaction Intra: Intraspecies interaction

APPL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82390	APPL Antibody (YA2135)	WB, IHC-P	Human, Mouse, Rat
HY-P82390A	APPL Antibody (YA2135)(PBS only)	WB, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00867	APPL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20366	Appl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26876	Appl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	APPL1	NCBI