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Protein

Activating molecule in BECN1-regulated autophagy protein 1

Gene

Ambra1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

GO - Biological processi

  • autophagy Source: MGI
  • cell differentiation Source: UniProtKB-KW
  • mitophagy in response to mitochondrial depolarization Source: MGI
  • negative regulation of cell proliferation Source: MGI
  • negative regulation of neuron apoptotic process Source: MGI
  • neural tube development Source: MGI
  • parkin-mediated mitophagy in response to mitochondrial depolarization Source: MGI
  • positive regulation of mitophagy Source: MGI
  • positive regulation of phosphatidylinositol 3-kinase activity Source: MGI
  • regulation of autophagosome assembly Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Autophagy, Differentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-MMU-1632852. Macroautophagy.

Names & Taxonomyi

Protein namesi
Recommended name:
Activating molecule in BECN1-regulated autophagy protein 1
Gene namesi
Name:Ambra1
Synonyms:Kiaa1736
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:2443564. Ambra1.

Subcellular locationi

GO - Cellular componenti

  • autophagosome Source: UniProtKB-SubCell
  • axoneme Source: UniProtKB
  • cytoplasm Source: MGI
  • cytosol Source: ParkinsonsUK-UCL
  • mitochondrion Source: MGI
  • phagocytic vesicle Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle

Pathology & Biotechi

Disruption phenotypei

Mice display severe neural tube defects associated with autophagy impairment, accumulation of ubiquitinated proteins, unbalanced cell proliferation and excessive apoptotic cell death.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13001300Activating molecule in BECN1-regulated autophagy protein 1PRO_0000315704Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei329 – 3291PhosphoserineBy similarity
Modified residuei395 – 3951PhosphoserineBy similarity
Modified residuei444 – 4441PhosphoserineBy similarity
Modified residuei636 – 6361PhosphoserineBy similarity
Modified residuei640 – 6401PhosphoserineBy similarity
Modified residuei1206 – 12061PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiA2AH22.
PaxDbiA2AH22.
PeptideAtlasiA2AH22.
PRIDEiA2AH22.

PTM databases

iPTMnetiA2AH22.
PhosphoSiteiA2AH22.

Expressioni

Developmental stagei

At E8.5, it is detected throughout the neuroepithelium. At E11.5, it is highly expressed in the ventral-most part of the spinal cord, the encephalic vesicles, the neural retina, the limbs and the dorsal root ganglia. Later, it is expressed in the entire developing nervous system as well as in other tissues. In brain, strong expression is observed in the cortex, hippocampus and striatum of postnatal brain.

Gene expression databases

BgeeiENSMUSG00000040506.
CleanExiMM_AMBRA1.
GenevisibleiA2AH22. MM.

Interactioni

Subunit structurei

Interacts with BECN1 (PubMed:17589504). Probably forms a complex with BECN1 and PIK3C3 (PubMed:17589504). Interacts with BECN2 (By similarity).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi230728. 4 interactions.
IntActiA2AH22. 3 interactions.
STRINGi10090.ENSMUSP00000049258.

Structurei

3D structure databases

ProteinModelPortaliA2AH22.
SMRiA2AH22. Positions 28-201.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati51 – 9040WD 1Add
BLAST
Repeati93 – 13341WD 2Add
BLAST
Repeati135 – 17541WD 3Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi268 – 27710Poly-Pro
Compositional biasi756 – 7638Poly-Ser
Compositional biasi1120 – 11256Poly-Glu

Sequence similaritiesi

Contains 3 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0266. Eukaryota.
ENOG410ZUDQ. LUCA.
GeneTreeiENSGT00390000016223.
HOVERGENiHBG103818.
InParanoidiA2AH22.
KOiK17985.
OMAiHPSTEHM.
OrthoDBiEOG091G032K.
PhylomeDBiA2AH22.
TreeFamiTF328981.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A2AH22-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKVVPEKNAV RILWGRERGT RAMGAQRLLQ ELVEDKTRWM KWEGKRVELP
60 70 80 90 100
DSPRSTFLLA FSPDRTLLAS THVNHNIYIT EVKTGKCVHS LIGHRRTPWC
110 120 130 140 150
VTFHPTISGL IASGCLDGEV RIWDLHGGSE SWFTDSNNAI ASLAFHPTAQ
160 170 180 190 200
LLLIATANEI HFWDWSRREP FAVVKTASEM ERVRLVRFDP LGHYLLTAIV
210 220 230 240 250
NPSNQQGDDE PEIPIDGTEL SHYRQRALLQ SQPVRRTPLL HNFLHMLSSR
260 270 280 290 300
SSGIQVGEQS TVQDSATPSP PPPPPQPSTE RPRTSAYIRL RQRVSYPTTV
310 320 330 340 350
ECCQHPGILC LCSRCAGTRV PSLLPHQDSV PPASARATTP SFSFVQTEPF
360 370 380 390 400
HPPEQASSTQ QDQGLLNRPS AFSTVQSSTA GNTLRNLSLG PTRRSLGGPL
410 420 430 440 450
SSHPSRYHRE LAPGLTGSEW TRTVLTLNSR SEVESMPPPR TSASSVSLLS
460 470 480 490 500
VLRQQEGGSQ ASVYTSATEG RGFPSSGLAT ESDGGNGSSQ NNSGSIRHEL
510 520 530 540 550
QCDLRRFFLE YDRLQELDQS LSGETPQTQQ AQEMLNNNIE SERPGPSHLP
560 570 580 590 600
TPHSSENNSN LSRGHLNRCR ACHNLLTFNN DTLRWERTTP NYSSGEASSS
610 620 630 640 650
WHVSTTFEGM PPSGNQLPPL ERTEGQMPSS SRLELSSSAS SQEERTVGVA
660 670 680 690 700
FNQETGHWER IYTQSSRSGT VSQEALHQDM PEESSEEDSL RRRLLESSLI
710 720 730 740 750
SLSRYDGAGS REHPIYPDPA RLSPAAYYAQ RMIQYLSRRD SIRQRSMRYQ
760 770 780 790 800
QNRLRSSTSS SSSDNQGPSV EGTDLEFEDF EDNGDRSRHR APRNARMSAP
810 820 830 840 850
SLGRFVPRRF LLPEYLPYAG IFHERGQPGL ATHSSVNRVL AGAVIGDGQS
860 870 880 890 900
AVASNIANTT YRLQWWDFTK FDLPEISNAS VNVLVQNCKI YNDASCDISA
910 920 930 940 950
DGQLLAAFIP SSQRGFPDEG ILAVYSLAPH NLGEMLYTKR FGPNAISVSL
960 970 980 990 1000
SPMGRYVMVG LASRRILLHP STEHMVAQVF RLQQAHGGET SMRRVFNVLY
1010 1020 1030 1040 1050
PMPADQRRHV SINSARWLPE PGLGLAYGTN KGDLVICRPE ALNSGIEYYW
1060 1070 1080 1090 1100
DQLSETVFTV HSSSRSSERP GTSRATWRTD RDMGLMNAIG LQPRNPTTSV
1110 1120 1130 1140 1150
TSQGTQTLAL QLQNAETQTE REEEEPGAAS SGPGEGEGSE YGGSGEDALS
1160 1170 1180 1190 1200
RIQRLMAEGG MTAVVQREQS TTMASMGGFG NNIIVSHRIH RSSQTGTESG
1210 1220 1230 1240 1250
AARTSSPQPS TSRGLPSEPG QLAERALSPR TASWDQPSTS GRELPQPALS
1260 1270 1280 1290 1300
SSSPVPIPVP LASNEGPTMH CNVTNNSHLP EGDGSNRGEA AGPSGEPQNR
Length:1,300
Mass (Da):142,879
Last modified:February 20, 2007 - v1
Checksum:i081C4E14166B4985
GO
Isoform 2 (identifier: A2AH22-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-345: Missing.

Show »
Length:1,209
Mass (Da):133,111
Checksum:i708F9AC9337B5F66
GO
Isoform 3 (identifier: A2AH22-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     782-1300: Missing.

Show »
Length:781
Mass (Da):86,953
Checksum:iF237DA818E40071C
GO
Isoform 4 (identifier: A2AH22-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     692-720: Missing.
     782-1300: Missing.

Show »
Length:752
Mass (Da):83,715
Checksum:iC094F255D814FDDA
GO
Isoform 5 (identifier: A2AH22-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-345: Missing.
     692-720: Missing.
     1010-1016: VSINSAR → QRSTSLK
     1017-1300: Missing.

Show »
Length:896
Mass (Da):100,023
Checksum:i037ADEC2E55B3BB4
GO
Isoform 6 (identifier: A2AH22-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     722-781: Missing.

Show »
Length:1,240
Mass (Da):135,899
Checksum:i016A6F265466A948
GO
Isoform 7 (identifier: A2AH22-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-345: Missing.
     692-720: Missing.

Show »
Length:1,180
Mass (Da):129,873
Checksum:i8EBA16292AD4243A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti111 – 1111I → T in BAE33303 (PubMed:16141072).Curated
Sequence conflicti492 – 4921N → K in BAE33303 (PubMed:16141072).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei255 – 34591Missing in isoform 2, isoform 5 and isoform 7. 1 PublicationVSP_030658Add
BLAST
Alternative sequencei692 – 72029Missing in isoform 4, isoform 5 and isoform 7. 1 PublicationVSP_030659Add
BLAST
Alternative sequencei722 – 78160Missing in isoform 6. CuratedVSP_030660Add
BLAST
Alternative sequencei782 – 1300519Missing in isoform 3 and isoform 4. 1 PublicationVSP_030661Add
BLAST
Alternative sequencei1010 – 10167VSINSAR → QRSTSLK in isoform 5. 1 PublicationVSP_030662
Alternative sequencei1017 – 1300284Missing in isoform 5. 1 PublicationVSP_030663Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK037516 mRNA. Translation: BAC29823.1.
AK083596 mRNA. Translation: BAC38965.1.
AK148887 mRNA. Translation: BAE28691.1.
AK155513 mRNA. Translation: BAE33303.1.
AK169280 mRNA. Translation: BAE41038.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14517.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14518.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14519.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14520.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19280.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19281.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19282.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19283.1.
AK129433 mRNA. Translation: BAC98243.1.
CCDSiCCDS38179.1. [A2AH22-1]
CCDS38180.1. [A2AH22-2]
RefSeqiNP_001074223.1. NM_001080754.1. [A2AH22-2]
NP_766257.3. NM_172669.3. [A2AH22-1]
XP_006499316.1. XM_006499253.1. [A2AH22-7]
UniGeneiMm.436667.

Genome annotation databases

EnsembliENSMUST00000045699; ENSMUSP00000048898; ENSMUSG00000040506. [A2AH22-7]
ENSMUST00000045705; ENSMUSP00000049258; ENSMUSG00000040506. [A2AH22-1]
ENSMUST00000099712; ENSMUSP00000097299; ENSMUSG00000040506. [A2AH22-2]
ENSMUST00000111316; ENSMUSP00000106948; ENSMUSG00000040506. [A2AH22-6]
ENSMUST00000111317; ENSMUSP00000106949; ENSMUSG00000040506. [A2AH22-7]
GeneIDi228361.
KEGGimmu:228361.
UCSCiuc008kwq.1. mouse. [A2AH22-1]
uc008kwr.1. mouse. [A2AH22-4]
uc008kws.1. mouse. [A2AH22-7]
uc008kwt.1. mouse. [A2AH22-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK037516 mRNA. Translation: BAC29823.1.
AK083596 mRNA. Translation: BAC38965.1.
AK148887 mRNA. Translation: BAE28691.1.
AK155513 mRNA. Translation: BAE33303.1.
AK169280 mRNA. Translation: BAE41038.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14517.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14518.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14519.1.
AL714023, AL731772 Genomic DNA. Translation: CAM14520.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19280.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19281.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19282.1.
AL731772, AL714023 Genomic DNA. Translation: CAM19283.1.
AK129433 mRNA. Translation: BAC98243.1.
CCDSiCCDS38179.1. [A2AH22-1]
CCDS38180.1. [A2AH22-2]
RefSeqiNP_001074223.1. NM_001080754.1. [A2AH22-2]
NP_766257.3. NM_172669.3. [A2AH22-1]
XP_006499316.1. XM_006499253.1. [A2AH22-7]
UniGeneiMm.436667.

3D structure databases

ProteinModelPortaliA2AH22.
SMRiA2AH22. Positions 28-201.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi230728. 4 interactions.
IntActiA2AH22. 3 interactions.
STRINGi10090.ENSMUSP00000049258.

PTM databases

iPTMnetiA2AH22.
PhosphoSiteiA2AH22.

Proteomic databases

MaxQBiA2AH22.
PaxDbiA2AH22.
PeptideAtlasiA2AH22.
PRIDEiA2AH22.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000045699; ENSMUSP00000048898; ENSMUSG00000040506. [A2AH22-7]
ENSMUST00000045705; ENSMUSP00000049258; ENSMUSG00000040506. [A2AH22-1]
ENSMUST00000099712; ENSMUSP00000097299; ENSMUSG00000040506. [A2AH22-2]
ENSMUST00000111316; ENSMUSP00000106948; ENSMUSG00000040506. [A2AH22-6]
ENSMUST00000111317; ENSMUSP00000106949; ENSMUSG00000040506. [A2AH22-7]
GeneIDi228361.
KEGGimmu:228361.
UCSCiuc008kwq.1. mouse. [A2AH22-1]
uc008kwr.1. mouse. [A2AH22-4]
uc008kws.1. mouse. [A2AH22-7]
uc008kwt.1. mouse. [A2AH22-2]

Organism-specific databases

CTDi55626.
MGIiMGI:2443564. Ambra1.
RougeiSearch...

Phylogenomic databases

eggNOGiKOG0266. Eukaryota.
ENOG410ZUDQ. LUCA.
GeneTreeiENSGT00390000016223.
HOVERGENiHBG103818.
InParanoidiA2AH22.
KOiK17985.
OMAiHPSTEHM.
OrthoDBiEOG091G032K.
PhylomeDBiA2AH22.
TreeFamiTF328981.

Enzyme and pathway databases

ReactomeiR-MMU-1632852. Macroautophagy.

Miscellaneous databases

PROiA2AH22.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000040506.
CleanExiMM_AMBRA1.
GenevisibleiA2AH22. MM.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAMRA1_MOUSE
AccessioniPrimary (citable) accession number: A2AH22
Secondary accession number(s): A2AH21
, A2AH24, Q3TF60, Q3U239, Q3UF70, Q6ZPJ1, Q8BJJ8, Q8BYW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: February 20, 2007
Last modified: September 7, 2016
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.