AMBRA1 (autophagy and beclin 1 regulator 1)

2014-02-01  

Identity

HGNC
AMBRA1
LOCATION
11p11.2
LOCUSID
55626
ALIAS
DCAF3,WDR94
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55626
MIM: 611359
HGNC: 25990
Ensembl: ENSG00000110497

Variants:

dbSNP: 55626
ClinVar: 55626
TCGA: ENSG00000110497
COSMIC: AMBRA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110497ENST00000314845Q9C0C7
ENSG00000110497ENST00000458649Q9C0C7
ENSG00000110497ENST00000526545H0YE34
ENSG00000110497ENST00000526606E9PL55
ENSG00000110497ENST00000528950Q9C0C7
ENSG00000110497ENST00000533727A0A075B6T1
ENSG00000110497ENST00000534300Q9C0C7

Expression (GTEx)

0
5
10
15
20
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
Autophagy - animalKEGGko04140
Autophagy - animalKEGGhsa04140
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378063892024Ambra1 in exosomes secreted by HK-2 cells damaged by supersaturated oxalate induce mitophagy and autophagy-ferroptosis in normal HK-2 cells to participate in the occurrence of kidney stones.4
384241482024AMBRA1 promotes intestinal inflammation by antagonizing PP4R1/PP4c mediated IKK dephosphorylation in an autophagy-independent manner.0
384973912024sh- Ambra1 inhibits IRS-1/PI3K/Akt signalling pathway to reduce autophagy in gestational diabetes.0
388700612024AMBRA1 levels predict resistance to MAPK inhibitors in melanoma.0
378063892024Ambra1 in exosomes secreted by HK-2 cells damaged by supersaturated oxalate induce mitophagy and autophagy-ferroptosis in normal HK-2 cells to participate in the occurrence of kidney stones.4
384241482024AMBRA1 promotes intestinal inflammation by antagonizing PP4R1/PP4c mediated IKK dephosphorylation in an autophagy-independent manner.0
384973912024sh- Ambra1 inhibits IRS-1/PI3K/Akt signalling pathway to reduce autophagy in gestational diabetes.0
388700612024AMBRA1 levels predict resistance to MAPK inhibitors in melanoma.0
372257612023Ambra1 modulates the sensitivity of mantle cell lymphoma to palbociclib by regulating cyclin D1.0
372257612023Ambra1 modulates the sensitivity of mantle cell lymphoma to palbociclib by regulating cyclin D1.0
347987982022AMBRA1 regulates mitophagy by interacting with ATAD3A and promoting PINK1 stability.16
360827122022[Homocysteine promotes human hepatocyte autophagy through activating the activating molecule in beclin-1-regulated autophage (AMBRA1)].0
362437722022The Cancermuts software package for the prioritization of missense cancer variants: a case study of AMBRA1 in melanoma.6
347987982022AMBRA1 regulates mitophagy by interacting with ATAD3A and promoting PINK1 stability.16
360827122022[Homocysteine promotes human hepatocyte autophagy through activating the activating molecule in beclin-1-regulated autophage (AMBRA1)].0

Citation

Dessen P

AMBRA1 (autophagy and beclin 1 regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53689