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Protein

Activating molecule in BECN1-regulated autophagy protein 1

Gene

AMBRA1

Organism
Homo sapiens (Human)
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 (By similarity).By similarity

GO - Molecular functioni

  • GTPase binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • autophagosome assembly Source: ParkinsonsUK-UCL
  • autophagy of mitochondrion Source: ParkinsonsUK-UCL
  • cell differentiation Source: UniProtKB-KW
  • cellular response to starvation Source: Ensembl
  • macroautophagy Source: Reactome
  • mitophagy Source: ParkinsonsUK-UCL
  • negative regulation of cardiac muscle cell apoptotic process Source: Ensembl
  • negative regulation of cell proliferation Source: Ensembl
  • negative regulation of neuron apoptotic process Source: Ensembl
  • neural tube development Source: Ensembl
  • positive regulation of autophagy Source: Ensembl
  • positive regulation of phosphatidylinositol 3-kinase activity Source: ParkinsonsUK-UCL
  • response to mitochondrial depolarisation Source: ParkinsonsUK-UCL

Keywordsi

Molecular functionDevelopmental protein
Biological processAutophagy, Differentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-1632852. Macroautophagy.
SignaLinkiQ9C0C7.
SIGNORiQ9C0C7.

Names & Taxonomyi

Protein namesi
Recommended name:
Activating molecule in BECN1-regulated autophagy protein 1
Gene namesi
Name:AMBRA1
Synonyms:KIAA1736
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110497.14.
HGNCiHGNC:25990. AMBRA1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle

Pathology & Biotechi

Organism-specific databases

DisGeNETi55626.
OpenTargetsiENSG00000110497.
PharmGKBiPA162376307.

Polymorphism and mutation databases

BioMutaiAMBRA1.
DMDMi166215833.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003157031 – 1298Activating molecule in BECN1-regulated autophagy protein 1Add BLAST1298

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei328PhosphoserineCombined sources1
Modified residuei394PhosphoserineCombined sources1
Modified residuei443PhosphoserineCombined sources1
Modified residuei635PhosphoserineCombined sources1
Modified residuei639PhosphoserineCombined sources1
Modified residuei747Asymmetric dimethylarginineBy similarity1
Modified residuei1205PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9C0C7.
MaxQBiQ9C0C7.
PaxDbiQ9C0C7.
PeptideAtlasiQ9C0C7.
PRIDEiQ9C0C7.

PTM databases

iPTMnetiQ9C0C7.
PhosphoSitePlusiQ9C0C7.

Expressioni

Gene expression databases

BgeeiENSG00000110497.
CleanExiHS_AMBRA1.
ExpressionAtlasiQ9C0C7. baseline and differential.
GenevisibleiQ9C0C7. HS.

Organism-specific databases

HPAiCAB017825.
HPA038535.

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • GTPase binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi120765. 106 interactors.
DIPiDIP-53597N.
IntActiQ9C0C7. 39 interactors.
MINTiMINT-8177757.
STRINGi9606.ENSP00000318313.

Structurei

3D structure databases

ProteinModelPortaliQ9C0C7.
SMRiQ9C0C7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati51 – 90WD 1Add BLAST40
Repeati93 – 133WD 2Add BLAST41
Repeati135 – 175WD 3Add BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi268 – 277Poly-Pro10
Compositional biasi592 – 639Ser-richAdd BLAST48

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IQ11. Eukaryota.
ENOG410ZUDQ. LUCA.
GeneTreeiENSGT00390000016223.
HOGENOMiHOG000033925.
HOVERGENiHBG103818.
InParanoidiQ9C0C7.
KOiK17985.
OMAiHPSTEHM.
OrthoDBiEOG091G032K.
PhylomeDBiQ9C0C7.
TreeFamiTF328981.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiView protein in InterPro
IPR015943. WD40/YVTN_repeat-like_dom_sf.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
IPR036322. WD40_repeat_dom_sf.
SMARTiView protein in SMART
SM00320. WD40. 3 hits.
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiView protein in PROSITE
PS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9C0C7-1) [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 RILWGRERGA 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 RQRVSYPTAE
310 320 330 340 350
CCQHLGILCL CSRCSGTRVP SLLPHQDSVP PASARATTPS FSFVQTEPFH
360 370 380 390 400
PPEQASSTQQ DQGLLNRPSA FSTVQSSTAG NTLRNLSLGP TRRSLGGPLS
410 420 430 440 450
SHPSRYHREI APGLTGSEWT RTVLSLNSRS EAESMPPPRT SASSVSLLSV
460 470 480 490 500
LRQQEGGSQA SVYTSATEGR GFPASGLATE SDGGNGSSQN NSGSIRHELQ
510 520 530 540 550
CDLRRFFLEY DRLQELDQSL SGEAPQTQQA QEMLNNNIES ERPGPSHQPT
560 570 580 590 600
PHSSENNSNL SRGHLNRCRA CHNLLTFNND TLRWERTTPN YSSGEASSSW
610 620 630 640 650
QVPSSFESVP SSGSQLPPLE RTEGQTPSSS RLELSSSASP QEERTVGVAF
660 670 680 690 700
NQETGHWERI YTQSSRSGTV SQEALHQDMP EESSEEDSLR RRLLESSLIS
710 720 730 740 750
LSRYDGAGSR EHPIYPDPAR LSPAAYYAQR MIQYLSRRDS IRQRSMRYQQ
760 770 780 790 800
NRLRSSTSSS SSDNQGPSVE GTDLEFEDFE DNGDRSRHRA PRNARMSAPS
810 820 830 840 850
LGRFVPRRFL LPEYLPYAGI FHERGQPGLA THSSVNRVLA GAVIGDGQSA
860 870 880 890 900
VASNIANTTY RLQWWDFTKF DLPEISNASV NVLVQNCKIY NDASCDISAD
910 920 930 940 950
GQLLAAFIPS SQRGFPDEGI LAVYSLAPHN LGEMLYTKRF GPNAISVSLS
960 970 980 990 1000
PMGRYVMVGL ASRRILLHPS TEHMVAQVFR LQQAHGGETS MRRVFNVLYP
1010 1020 1030 1040 1050
MPADQRRHVS INSARWLPEP GLGLAYGTNK GDLVICRPEA LNSGVEYYWD
1060 1070 1080 1090 1100
QLNETVFTVH SNSRSSERPG TSRATWRTDR DMGLMNAIGL QPRNPATSVT
1110 1120 1130 1140 1150
SQGTQTLALQ LQNAETQTER EVPEPGTAAS GPGEGEGSEY GASGEDALSR
1160 1170 1180 1190 1200
IQRLMAEGGM TAVVQREQST TMASMGGFGN NIIVSHRIHR SSQTGTEPGA
1210 1220 1230 1240 1250
AHTSSPQPST SRGLLPEAGQ LAERGLSPRT ASWDQPGTPG REPTQPTLPS
1260 1270 1280 1290
SSPVPIPVSL PSAEGPTLHC ELTNNNHLLD GGSSRGDAAG PRGEPRNR
Length:1,298
Mass (Da):142,507
Last modified:January 15, 2008 - v2
Checksum:i44FE9CDFFFE6811E
GO
Isoform 2 (identifier: Q9C0C7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     721-780: Missing.

Show »
Length:1,238
Mass (Da):135,528
Checksum:iEE24A481D1388999
GO
Isoform 3 (identifier: Q9C0C7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     691-719: Missing.

Show »
Length:1,269
Mass (Da):139,269
Checksum:iC9902123C4EE6199
GO
Isoform 4 (identifier: Q9C0C7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-344: Missing.

Show »
Length:1,208
Mass (Da):132,837
Checksum:i3BA3D281C30318F1
GO
Isoform 5 (identifier: Q9C0C7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-344: Missing.
     691-691: R → RRSLALSPRL...ITGVSHRAWP

Show »
Length:1,301
Mass (Da):142,585
Checksum:i0EF81F37DFCA142D
GO
Isoform 6 (identifier: Q9C0C7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-344: Missing.
     691-719: Missing.
     864-880: WWDFTKFDLPEISNASV → GGGTSLSLTSLKSVMLP
     881-1298: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:761
Mass (Da):84,428
Checksum:i4512BD3DCDD64FE1
GO

Sequence cautioni

Isoform 6 : The sequence AL834190 differs from that shown. Reason: Frameshift at position 745.Curated
The sequence BAA91067 differs from that shown. Reason: Frameshift at position 682.Curated
The sequence BAB14457 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB21827 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti165W → R in BAA91067 (PubMed:14702039).Curated1
Sequence conflicti793N → K in AL834190 (PubMed:17974005).Curated1
Sequence conflicti869K → E in BAB14457 (PubMed:14702039).Curated1
Sequence conflicti983Q → L in BAB14457 (PubMed:14702039).Curated1
Sequence conflicti1105Q → E in AAH45609 (PubMed:15489334).Curated1
Sequence conflicti1268L → V in AAH45609 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030654255 – 344Missing in isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST90
Alternative sequenceiVSP_030655691 – 719Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST29
Alternative sequenceiVSP_030656691R → RRSLALSPRLEYSGAILAHC KLRLPGSCHSPASASQVAGT TGAHHHARLIFAFLVEMEFH HVSQAGLELLTSGDLPTSAS QSAGITGVSHRAWP in isoform 5. 1 Publication1
Alternative sequenceiVSP_030657721 – 780Missing in isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_045989864 – 880WWDFT…SNASV → GGGTSLSLTSLKSVMLP in isoform 6. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_045990881 – 1298Missing in isoform 6. 1 PublicationAdd BLAST418

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ870924 mRNA. Translation: ABI74670.1.
AB051523 mRNA. Translation: BAB21827.1. Different initiation.
AK000301 mRNA. Translation: BAA91067.1. Frameshift.
AK023197 mRNA. Translation: BAB14457.1. Different initiation.
AL834190 mRNA. No translation available.
AC024293 Genomic DNA. No translation available.
AC115097 Genomic DNA. No translation available.
AC116021 Genomic DNA. No translation available.
AC127035 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW67996.1.
CH471064 Genomic DNA. Translation: EAW67999.1.
CH471064 Genomic DNA. Translation: EAW68001.1.
BC045609 mRNA. Translation: AAH45609.1.
CCDSiCCDS31475.1. [Q9C0C7-4]
CCDS73281.1. [Q9C0C7-2]
RefSeqiNP_001254711.1. NM_001267782.1. [Q9C0C7-5]
NP_001254712.1. NM_001267783.1.
NP_001287660.1. NM_001300731.1. [Q9C0C7-2]
NP_060219.2. NM_017749.3. [Q9C0C7-4]
XP_005253066.1. XM_005253009.3. [Q9C0C7-1]
XP_005253068.1. XM_005253011.3. [Q9C0C7-3]
XP_005253071.1. XM_005253014.3. [Q9C0C7-4]
XP_006718322.1. XM_006718259.2. [Q9C0C7-1]
UniGeneiHs.654644.

Genome annotation databases

EnsembliENST00000314845; ENSP00000318313; ENSG00000110497. [Q9C0C7-4]
ENST00000458649; ENSP00000415327; ENSG00000110497. [Q9C0C7-1]
ENST00000528950; ENSP00000433945; ENSG00000110497. [Q9C0C7-3]
ENST00000534300; ENSP00000431926; ENSG00000110497. [Q9C0C7-2]
GeneIDi55626.
KEGGihsa:55626.
UCSCiuc001ncu.3. human. [Q9C0C7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiAMRA1_HUMAN
AccessioniPrimary (citable) accession number: Q9C0C7
Secondary accession number(s): A6XN33
, D3DQP8, G3V193, Q86XD6, Q9H8Z0, Q9NXE7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 22, 2017
This is version 133 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot