Human Gene AMBRA1 (ENST00000534300.5) Description and Page Index
  Description: Homo sapiens autophagy and beclin 1 regulator 1 (AMBRA1), transcript variant 4, mRNA. (from RefSeq NM_001300731)
Gencode Transcript: ENST00000534300.5
Gencode Gene: ENSG00000110497.14
Transcript (Including UTRs)
   Position: hg38 chr11:46,396,414-46,594,021 Size: 197,608 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr11:46,397,450-46,548,380 Size: 150,931 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:46,396,414-46,594,021)mRNA (may differ from genome)Protein (1238 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Activating molecule in BECN1-regulated autophagy protein 1;
FUNCTION: Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity).
SUBUNIT: Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3 (By similarity).
INTERACTION: P12504:vif (xeno); NbExp=5; IntAct=EBI-2512975, EBI-779991;
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome (By similarity).
SIMILARITY: Contains 3 WD repeats.
SEQUENCE CAUTION: Sequence=BAA91067.1; Type=Frameshift; Positions=682; Sequence=BAB14457.1; Type=Erroneous initiation; Sequence=BAB21827.1; Type=Erroneous initiation;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.39 RPKM in Adrenal Gland
Total median expression: 246.53 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -107.10314-0.341 Picture PostScript Text
3' UTR -403.201036-0.389 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q9C0C7
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0051020 GTPase binding

Biological Process:
GO:0000045 autophagosome assembly
GO:0000422 mitophagy
GO:0000423 macromitophagy
GO:0006914 autophagy
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0008285 negative regulation of cell proliferation
GO:0009267 cellular response to starvation
GO:0010508 positive regulation of autophagy
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0016236 macroautophagy
GO:0021915 neural tube development
GO:0030154 cell differentiation
GO:0031667 response to nutrient levels
GO:0043524 negative regulation of neuron apoptotic process
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity
GO:0098780 response to mitochondrial depolarisation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005776 autophagosome
GO:0005829 cytosol
GO:0005930 axoneme
GO:0031410 cytoplasmic vesicle
GO:0045335 phagocytic vesicle
GO:0048471 perinuclear region of cytoplasm

-  Descriptions from all associated GenBank mRNAs
  AK023197 - Homo sapiens cDNA FLJ13135 fis, clone NT2RP3003078, highly similar to Rattus norvegicus mRNA for ischemia related factor NYW-1.
BC045609 - Homo sapiens autophagy/beclin-1 regulator 1, mRNA (cDNA clone MGC:33725 IMAGE:5296472), complete cds.
LF383707 - JP 2014500723-A/191210: Polycomb-Associated Non-Coding RNAs.
MA619284 - JP 2018138019-A/191210: Polycomb-Associated Non-Coding RNAs.
AL834190 - Homo sapiens mRNA; cDNA DKFZp762K155 (from clone DKFZp762K155).
AK057896 - Homo sapiens cDNA FLJ25167 fis, clone CBR08428.
AK000301 - Homo sapiens cDNA FLJ20294 fis, clone HEP05851.
AB051523 - Homo sapiens KIAA1736 mRNA for KIAA1736 protein.
AK302808 - Homo sapiens cDNA FLJ60985 complete cds.
DQ870924 - Homo sapiens activating molecule in beclin-1-regulated autophagy (AMBRA1) mRNA, complete cds.
KJ899163 - Synthetic construct Homo sapiens clone ccsbBroadEn_08557 AMBRA1 gene, encodes complete protein.
AB384281 - Synthetic construct DNA, clone: pF1KSDA1736, Homo sapiens KIAA1736 gene for KIAA1736 protein, complete cds, without stop codon, in Flexi system.
AK304530 - Homo sapiens cDNA FLJ56043 complete cds.
LF348074 - JP 2014500723-A/155577: Polycomb-Associated Non-Coding RNAs.
MA583651 - JP 2018138019-A/155577: Polycomb-Associated Non-Coding RNAs.
JD379497 - Sequence 360521 from Patent EP1572962.
JD188558 - Sequence 169582 from Patent EP1572962.
JD322457 - Sequence 303481 from Patent EP1572962.
JD210785 - Sequence 191809 from Patent EP1572962.
JD207366 - Sequence 188390 from Patent EP1572962.
LF348073 - JP 2014500723-A/155576: Polycomb-Associated Non-Coding RNAs.
MA583650 - JP 2018138019-A/155576: Polycomb-Associated Non-Coding RNAs.
JD132134 - Sequence 113158 from Patent EP1572962.
JD498418 - Sequence 479442 from Patent EP1572962.
JD220561 - Sequence 201585 from Patent EP1572962.
JD187775 - Sequence 168799 from Patent EP1572962.
JD149097 - Sequence 130121 from Patent EP1572962.
JD437987 - Sequence 419011 from Patent EP1572962.
JD402218 - Sequence 383242 from Patent EP1572962.
LF348072 - JP 2014500723-A/155575: Polycomb-Associated Non-Coding RNAs.
MA583649 - JP 2018138019-A/155575: Polycomb-Associated Non-Coding RNAs.
JD317947 - Sequence 298971 from Patent EP1572962.
JD214346 - Sequence 195370 from Patent EP1572962.
JD268912 - Sequence 249936 from Patent EP1572962.
JD404401 - Sequence 385425 from Patent EP1572962.
JD460208 - Sequence 441232 from Patent EP1572962.
JD470271 - Sequence 451295 from Patent EP1572962.
JD136470 - Sequence 117494 from Patent EP1572962.
JD334135 - Sequence 315159 from Patent EP1572962.
JD401468 - Sequence 382492 from Patent EP1572962.
JD336349 - Sequence 317373 from Patent EP1572962.
JD131465 - Sequence 112489 from Patent EP1572962.
JD521245 - Sequence 502269 from Patent EP1572962.
JD150246 - Sequence 131270 from Patent EP1572962.
JD322008 - Sequence 303032 from Patent EP1572962.
JD483079 - Sequence 464103 from Patent EP1572962.
JD099102 - Sequence 80126 from Patent EP1572962.
JD106473 - Sequence 87497 from Patent EP1572962.
JD447804 - Sequence 428828 from Patent EP1572962.
JD384026 - Sequence 365050 from Patent EP1572962.
JD330183 - Sequence 311207 from Patent EP1572962.
JD103463 - Sequence 84487 from Patent EP1572962.
JD445560 - Sequence 426584 from Patent EP1572962.
JD103449 - Sequence 84473 from Patent EP1572962.
JD131917 - Sequence 112941 from Patent EP1572962.
JD162924 - Sequence 143948 from Patent EP1572962.
JD169002 - Sequence 150026 from Patent EP1572962.
JD477397 - Sequence 458421 from Patent EP1572962.
JD056718 - Sequence 37742 from Patent EP1572962.
JD154857 - Sequence 135881 from Patent EP1572962.
JD060626 - Sequence 41650 from Patent EP1572962.
JD058599 - Sequence 39623 from Patent EP1572962.
JD224623 - Sequence 205647 from Patent EP1572962.
JD350725 - Sequence 331749 from Patent EP1572962.
JD345944 - Sequence 326968 from Patent EP1572962.
JD279054 - Sequence 260078 from Patent EP1572962.
JD112285 - Sequence 93309 from Patent EP1572962.
LF348059 - JP 2014500723-A/155562: Polycomb-Associated Non-Coding RNAs.
MA583636 - JP 2018138019-A/155562: Polycomb-Associated Non-Coding RNAs.
LF348058 - JP 2014500723-A/155561: Polycomb-Associated Non-Coding RNAs.
MA583635 - JP 2018138019-A/155561: Polycomb-Associated Non-Coding RNAs.
JD338151 - Sequence 319175 from Patent EP1572962.
JD156110 - Sequence 137134 from Patent EP1572962.
JD332514 - Sequence 313538 from Patent EP1572962.
JD058884 - Sequence 39908 from Patent EP1572962.
JD209608 - Sequence 190632 from Patent EP1572962.
AL137611 - Homo sapiens mRNA; cDNA DKFZp434L2011 (from clone DKFZp434L2011).
JD539904 - Sequence 520928 from Patent EP1572962.
JD141891 - Sequence 122915 from Patent EP1572962.
JD469827 - Sequence 450851 from Patent EP1572962.
LF348036 - JP 2014500723-A/155539: Polycomb-Associated Non-Coding RNAs.
MA583613 - JP 2018138019-A/155539: Polycomb-Associated Non-Coding RNAs.
LF348027 - JP 2014500723-A/155530: Polycomb-Associated Non-Coding RNAs.
MA583604 - JP 2018138019-A/155530: Polycomb-Associated Non-Coding RNAs.
LF348026 - JP 2014500723-A/155529: Polycomb-Associated Non-Coding RNAs.
MA583603 - JP 2018138019-A/155529: Polycomb-Associated Non-Coding RNAs.
LF348025 - JP 2014500723-A/155528: Polycomb-Associated Non-Coding RNAs.
MA583602 - JP 2018138019-A/155528: Polycomb-Associated Non-Coding RNAs.
LF348024 - JP 2014500723-A/155527: Polycomb-Associated Non-Coding RNAs.
MA583601 - JP 2018138019-A/155527: Polycomb-Associated Non-Coding RNAs.
CU692274 - Synthetic construct Homo sapiens gateway clone IMAGE:100021033 5' read FLJ20294 mRNA.
LF348023 - JP 2014500723-A/155526: Polycomb-Associated Non-Coding RNAs.
MA583600 - JP 2018138019-A/155526: Polycomb-Associated Non-Coding RNAs.
JD497621 - Sequence 478645 from Patent EP1572962.
JD499196 - Sequence 480220 from Patent EP1572962.
JD233680 - Sequence 214704 from Patent EP1572962.
LF348016 - JP 2014500723-A/155519: Polycomb-Associated Non-Coding RNAs.
MA583593 - JP 2018138019-A/155519: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9C0C7 (Reactome details) participates in the following event(s):

R-HSA-1632843 AMBRA1 binds DYNLL1,DYNLL2
R-HSA-5678315 Beclin-1 complex, p-AMBRA1 dissociate from DYNLL1,DYNLL2
R-HSA-5678313 AMBRA1:DYNLL1,DYNLL2 binds Beclin-1 complex
R-HSA-1632857 ULK1 phosphorylates AMBRA1:Beclin-1 complex
R-HSA-1632852 Macroautophagy
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: A6XN33, AMRA1_HUMAN, D3DQP8, ENST00000534300.1, ENST00000534300.2, ENST00000534300.3, ENST00000534300.4, KIAA1736, NM_001300731, Q86XD6, Q9C0C7, Q9H8Z0, Q9NXE7, uc001ncx.1, uc001ncx.2, uc001ncx.3, uc001ncx.4
UCSC ID: ENST00000534300.5
RefSeq Accession: NM_001300731
Protein: Q9C0C7 (aka AMRA1_HUMAN)
CCDS: CCDS73281.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.