Human Gene AMBRA1 (ENST00000683756.1_5) from GENCODE V47lift37

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Description: autophagy and beclin 1 regulator 1, transcript variant 10 (from RefSeq NM_001387011.1)
Gencode Transcript: ENST00000683756.1_5
Gencode Gene: ENSG00000110497.15_18
Transcript (Including UTRs)
Position: hg19 chr11:46,417,964-46,615,573 Size: 197,610 Total Exon Count: 18 Strand: -
Coding Region
Position: hg19 chr11:46,419,000-46,569,930 Size: 150,931 Coding Exon Count: 17

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations	mRNA Descriptions
Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr11:46,417,964-46,615,573)			mRNA (may differ from genome)		Protein (1298 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	ExonPrimer	GeneCards	HGNC	MGI
PubMed	Reactome	UniProtKB

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;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl D000643 Ammonium Chloride D003042 Cocaine D019327 Copper Sulfate D005557 Formaldehyde D010634 Phenobarbital D013749 Tetrachlorodibenzodioxin D014635 Valproic Acid D014810 Vitamin E C045950 propiconazole

Common Gene Haplotype Alleles


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Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-107.10	316	-0.339	Picture	PostScript	Text
3' UTR	-403.20	1036	-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

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q9C0C7


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

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. 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. AB384281 - Synthetic construct DNA, clone: pF1KSDA1736, Homo sapiens KIAA1736 gene for KIAA1736 protein, complete cds, without stop codon, in Flexi system. KJ899163 - Synthetic construct Homo sapiens clone ccsbBroadEn_08557 AMBRA1 gene, encodes complete protein. AK304530 - Homo sapiens cDNA FLJ56043 complete cds. MA619284 - JP 2018138019-A/191210: Polycomb-Associated Non-Coding RNAs. LF348074 - JP 2014500723-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. 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. 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. LF348058 - JP 2014500723-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. JD515658 - Sequence 496682 from Patent EP1572962. JD063597 - Sequence 44621 from Patent EP1572962. JD103022 - Sequence 84046 from Patent EP1572962. JD556575 - Sequence 537599 from Patent EP1572962. JD129898 - Sequence 110922 from Patent EP1572962. JD525731 - Sequence 506755 from Patent EP1572962. MA583651 - JP 2018138019-A/155577: Polycomb-Associated Non-Coding RNAs. MA583650 - JP 2018138019-A/155576: Polycomb-Associated Non-Coding RNAs. MA583649 - JP 2018138019-A/155575: Polycomb-Associated Non-Coding RNAs. MA583636 - JP 2018138019-A/155562: Polycomb-Associated Non-Coding RNAs. MA583635 - JP 2018138019-A/155561: Polycomb-Associated Non-Coding RNAs. LF348036 - JP 2014500723-A/155539: Polycomb-Associated Non-Coding RNAs. LF348027 - JP 2014500723-A/155530: Polycomb-Associated Non-Coding RNAs. LF348026 - JP 2014500723-A/155529: Polycomb-Associated Non-Coding RNAs. LF348025 - JP 2014500723-A/155528: Polycomb-Associated Non-Coding RNAs. LF348024 - JP 2014500723-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. 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. MA583613 - JP 2018138019-A/155539: Polycomb-Associated Non-Coding RNAs. MA583604 - JP 2018138019-A/155530: Polycomb-Associated Non-Coding RNAs. MA583603 - JP 2018138019-A/155529: Polycomb-Associated Non-Coding RNAs. MA583602 - JP 2018138019-A/155528: Polycomb-Associated Non-Coding RNAs. MA583601 - JP 2018138019-A/155527: Polycomb-Associated Non-Coding RNAs. MA583600 - JP 2018138019-A/155526: 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, AMBRA1 , AMRA1_HUMAN, D3DQP8, DCAF3 , G3V193, KIAA1736 , NM_001387011, Q86XD6, Q9C0C7, Q9H8Z0, Q9NXE7, uc330lwf.1, uc330lwf.2 UCSC ID: ENST00000683756.1_5 RefSeq Accession: NM_001387011.1 Protein: Q9C0C7 (aka AMRA1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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