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
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: AMRA1_HUMAN
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
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-  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     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.