Human Gene AMBRA1 (uc001ncv.3)
  Description: Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr11:46,417,962-46,615,619 Size: 197,658 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr11:46,419,000-46,569,930 Size: 150,931 Coding Exon Count: 19 

Page IndexSequence and LinksPrimersCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:46,417,962-46,615,619)mRNA (may differ from genome)Protein (1301 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  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.
Click here to open Exonprimer with this transcript

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -126.40362-0.349 Picture PostScript Text
3' UTR -424.801038-0.409 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
  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
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9C0C7-5
FrontTopSide
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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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: KIAA1736, NM_001267782, NP_001254711, Q9C0C7-5, uc001ncv.2
UCSC ID: uc001ncv.3
RefSeq Accession: NM_001267782
Protein: Q9C0C7-5, splice isoform of Q9C0C7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001267782.1
exon count: 20CDS single in 3' UTR: no RNA size: 5315
ORF size: 3906CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7632.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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