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

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

APPL1 Protein Structure

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (502 - 629)

  • 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

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