APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1)

2003-02-01  

Identity

HGNC
APPL1
LOCATION
3p14.3
LOCUSID
26060
ALIAS
APPL,DIP13alpha,MODY14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26060
MIM: 604299
HGNC: 24035
Ensembl: ENSG00000157500

Variants:

dbSNP: 26060
ClinVar: 26060
TCGA: ENSG00000157500
COSMIC: APPL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157500ENST00000288266Q9UKG1
ENSG00000157500ENST00000444459C9JAB0
ENSG00000157500ENST00000495803C9K0C4
ENSG00000157500ENST00000650354Q9UKG1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Colorectal cancerKEGGko05210
Pathways in cancerKEGGhsa05200
Colorectal cancerKEGGhsa05210
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Caspase activation via extrinsic apoptotic signalling pathwayREACTOMER-HSA-5357769
Ligand-independent caspase activation via DCCREACTOMER-HSA-418889
Longevity regulating pathwayKEGGhsa04211

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
360894172023Aberrant protein expression of Appl1, Sortilin and Syndecan-1 during the biological progression of prostate cancer.8
368467202023APPL1 Is a Prognostic Biomarker and Correlated with Treg Cell Infiltration via Oxygen-Consuming Metabolism in Renal Clear Cell Carcinoma.2
371872932023Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis.1
377956152023Dysfunctional APPL1-Mediated Epigenetic Regulation in Diabetic Vascular Injury.0
360894172023Aberrant protein expression of Appl1, Sortilin and Syndecan-1 during the biological progression of prostate cancer.8
368467202023APPL1 Is a Prognostic Biomarker and Correlated with Treg Cell Infiltration via Oxygen-Consuming Metabolism in Renal Clear Cell Carcinoma.2
371872932023Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis.1
377956152023Dysfunctional APPL1-Mediated Epigenetic Regulation in Diabetic Vascular Injury.0
359845642022Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.3
359845642022Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.3
335977202021Rapid whole cell imaging reveals a calcium-APPL1-dynein nexus that regulates cohort trafficking of stimulated EGF receptors.7
335977202021Rapid whole cell imaging reveals a calcium-APPL1-dynein nexus that regulates cohort trafficking of stimulated EGF receptors.7
323393792020APPL1 as an important regulator of insulin and adiponectin-signaling pathways in the PCOS: A narrative review.7
323393792020APPL1 as an important regulator of insulin and adiponectin-signaling pathways in the PCOS: A narrative review.7
293615272018α5β1 integrin trafficking and Rac activation are regulated by APPL1 in a Rab5-dependent manner to inhibit cell migration.7

Citation

Dessen P

APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/680