Free for academic non-profit institutions. Other users need a Commercial license
AMBRA1 (Autophagy And Beclin 1 Regulator 1) is a Protein Coding gene. Diseases associated with AMBRA1 include Vici Syndrome and Gastric Tubular Adenocarcinoma. Among its related pathways are Neuroscience and Spinocerebellar ataxia. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 20562859 |
GO:0031625 | ubiquitin protein ligase binding | IPI | 21753002 |
GO:0051020 | GTPase binding | IPI | 25891078 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 17589504 |
GO:0005739 | colocalizes_with mitochondrion | IDA | 21753002 |
GO:0005741 | mitochondrial outer membrane | NAS | 25215947 |
GO:0005776 | autophagosome | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Parkinson disease | ||
2 | Neuroscience | ||
3 | Autophagy - animal | ||
4 | Mitophagy - animal | ||
5 | Spinocerebellar ataxia |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000045 | autophagosome assembly | IMP | 25215947 |
GO:0000422 | autophagy of mitochondrion | IGI | 25215947 |
GO:0000423 | mitophagy | IMP | 25215947 |
GO:0006914 | autophagy | IBA | 21873635 |
GO:0007275 | multicellular organism development | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - |
ExUns: | 22a | · | 22b |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AMBRA1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AMBRA1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ambra1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ambra1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | AMBRA1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AMBRA1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AMBRA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AMBRA1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AMBRA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ambra1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14512 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | AMBRA1 (1 of 2) 31 |
|
OneToMany | |
ambra1 30 |
|
||||
ambra1b 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691340 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 46,545,724(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
735163 | Benign: not provided | 46,542,715(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
779140 | Benign: not provided | 46,542,541(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
787909 | Benign: not provided | 46,434,889(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
869202 | Uncertain Significance: Neural tube defect | 46,547,252(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2658413 | CNV | deletion | 23128226 |
esv3579502 | CNV | loss | 25503493 |
esv3626183 | CNV | gain | 21293372 |
esv3626185 | CNV | loss | 21293372 |
esv3626186 | CNV | loss | 21293372 |
esv3626187 | CNV | loss | 21293372 |
esv3626188 | CNV | loss | 21293372 |
esv3626189 | CNV | loss | 21293372 |
esv3626190 | CNV | gain | 21293372 |
nsv309 | CNV | deletion | 18451855 |
nsv477325 | CNV | novel sequence insertion | 20440878 |
nsv554201 | CNV | loss | 21841781 |
nsv554202 | CNV | loss | 21841781 |
nsv825867 | CNV | gain | 20364138 |
nsv972006 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vici syndrome |
|
|
gastric tubular adenocarcinoma |
|
|
parkinson disease, late-onset |
|
|