UniProtKB - Q9C0C7 (AMRA1_HUMAN)
Protein
Activating molecule in BECN1-regulated autophagy protein 1
Gene
AMBRA1
Organism
Homo sapiens (Human)
Status
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 Source: GO_Central
- 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 population 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 function | Developmental protein |
Biological process | Autophagy, Differentiation, Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q9C0C7 |
Reactomei | R-HSA-1632852, Macroautophagy |
SignaLinki | Q9C0C7 |
SIGNORi | Q9C0C7 |
Names & Taxonomyi
Protein namesi | Recommended name: Activating molecule in BECN1-regulated autophagy protein 1 |
Gene namesi | Name:AMBRA1 Synonyms:KIAA1736 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25990, AMBRA1 |
MIMi | 611359, gene |
neXtProti | NX_Q9C0C7 |
VEuPathDBi | HostDB:ENSG00000110497.14 |
Subcellular locationi
Other locations
- autophagosome By similarity
Note: Localizes also to discrete punctae along the ciliary axoneme.By similarity
Cytoskeleton
- axoneme Source: UniProtKB
Cytosol
- cytosol Source: ParkinsonsUK-UCL
Mitochondrion
- mitochondrial outer membrane Source: ParkinsonsUK-UCL
- mitochondrion Source: ParkinsonsUK-UCL
Other locations
- autophagosome Source: UniProtKB-SubCell
- cytoplasm Source: MGI
- intracellular membrane-bounded organelle Source: GO_Central
- perinuclear region of cytoplasm Source: ParkinsonsUK-UCL
- phagocytic vesicle Source: Ensembl
Keywords - Cellular componenti
Cytoplasmic vesiclePathology & Biotechi
Organism-specific databases
DisGeNETi | 55626 |
OpenTargetsi | ENSG00000110497 |
PharmGKBi | PA162376307 |
Miscellaneous databases
Pharosi | Q9C0C7, Tbio |
Genetic variation databases
BioMutai | AMBRA1 |
DMDMi | 166215833 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000315703 | 1 – 1298 | Activating molecule in BECN1-regulated autophagy protein 1Add BLAST | 1298 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 328 | PhosphoserineCombined sources | 1 | |
Modified residuei | 394 | PhosphoserineCombined sources | 1 | |
Modified residuei | 443 | PhosphoserineCombined sources | 1 | |
Modified residuei | 635 | PhosphoserineCombined sources | 1 | |
Modified residuei | 639 | PhosphoserineCombined sources | 1 | |
Modified residuei | 747 | Asymmetric dimethylarginineBy similarity | 1 | |
Modified residuei | 1205 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | Q9C0C7 |
jPOSTi | Q9C0C7 |
MassIVEi | Q9C0C7 |
MaxQBi | Q9C0C7 |
PaxDbi | Q9C0C7 |
PeptideAtlasi | Q9C0C7 |
PRIDEi | Q9C0C7 |
ProteomicsDBi | 32296 79999 [Q9C0C7-1] 80000 [Q9C0C7-2] 80001 [Q9C0C7-3] 80002 [Q9C0C7-4] 80003 [Q9C0C7-5] |
PTM databases
iPTMneti | Q9C0C7 |
PhosphoSitePlusi | Q9C0C7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000110497, Expressed in stomach and 241 other tissues |
ExpressionAtlasi | Q9C0C7, baseline and differential |
Genevisiblei | Q9C0C7, HS |
Organism-specific databases
HPAi | ENSG00000110497, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3 (By similarity).
Interacts with BECN2.
By similarity1 PublicationBinary interactionsi
Hide detailsQ9C0C7
Isoform 3 [Q9C0C7-3]
With | #Exp. | IntAct |
---|---|---|
TRAF6 [Q9Y4K3] | 2 | EBI-16042318,EBI-359276 |
ULK1 [O75385] | 4 | EBI-16042318,EBI-908831 |
GO - Molecular functioni
- GTPase binding Source: UniProtKB
- ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
Protein-protein interaction databases
BioGRIDi | 120765, 221 interactors |
DIPi | DIP-53597N |
IntActi | Q9C0C7, 52 interactors |
MINTi | Q9C0C7 |
STRINGi | 9606.ENSP00000431926 |
Miscellaneous databases
RNActi | Q9C0C7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 51 – 90 | WD 1Add BLAST | 40 | |
Repeati | 93 – 133 | WD 2Add BLAST | 41 | |
Repeati | 135 – 175 | WD 3Add BLAST | 41 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 268 – 277 | Poly-Pro | 10 | |
Compositional biasi | 592 – 639 | Ser-richAdd BLAST | 48 |
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG0266, Eukaryota |
GeneTreei | ENSGT00390000016223 |
HOGENOMi | CLU_008882_0_0_1 |
InParanoidi | Q9C0C7 |
OMAi | PPAECCQ |
OrthoDBi | 488527at2759 |
PhylomeDBi | Q9C0C7 |
TreeFami | TF328981 |
Family and domain databases
DisProti | DP01328 |
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View 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 |
SMARTi | View protein in SMART SM00320, WD40, 3 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 1 hit PS50082, WD_REPEATS_2, 1 hit PS50294, WD_REPEATS_REGION, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9C0C7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A075B6T1 | A0A075B6T1_HUMAN | Activating molecule in BECN1-regula... | AMBRA1 | 1,179 | Annotation score: | ||
H0YE34 | H0YE34_HUMAN | Activating molecule in BECN1-regula... | AMBRA1 | 256 | Annotation score: | ||
E9PL55 | E9PL55_HUMAN | Activating molecule in BECN1-regula... | AMBRA1 | 24 | Annotation score: |
Sequence cautioni
The sequence BAA91067 differs from that shown. Reason: Frameshift.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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 165 | W → R in BAA91067 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 793 | N → K in AL834190 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 869 | K → E in BAB14457 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 983 | Q → L in BAB14457 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1105 | Q → E in AAH45609 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 1268 | L → V in AAH45609 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030654 | 255 – 344 | Missing in isoform 4, isoform 5 and isoform 6. 3 PublicationsAdd BLAST | 90 | |
Alternative sequenceiVSP_030655 | 691 – 719 | Missing in isoform 3 and isoform 6. 2 PublicationsAdd BLAST | 29 | |
Alternative sequenceiVSP_030656 | 691 | R → RRSLALSPRLEYSGAILAHC KLRLPGSCHSPASASQVAGT TGAHHHARLIFAFLVEMEFH HVSQAGLELLTSGDLPTSAS QSAGITGVSHRAWP in isoform 5. 1 Publication | 1 | |
Alternative sequenceiVSP_030657 | 721 – 780 | Missing in isoform 2. 1 PublicationAdd BLAST | 60 | |
Alternative sequenceiVSP_045989 | 864 – 880 | WWDFT…SNASV → GGGTSLSLTSLKSVMLP in isoform 6. 1 PublicationAdd BLAST | 17 | |
Alternative sequenceiVSP_045990 | 881 – 1298 | Missing in isoform 6. 1 PublicationAdd BLAST | 418 |
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 |
CCDSi | CCDS31475.1 [Q9C0C7-4] CCDS73281.1 [Q9C0C7-2] |
RefSeqi | NP_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 XP_006718322.1, XM_006718259.2 [Q9C0C7-1] |
Genome annotation databases
Ensembli | ENST00000314845; ENSP00000318313; ENSG00000110497 [Q9C0C7-4] ENST00000458649; ENSP00000415327; ENSG00000110497 [Q9C0C7-1] ENST00000528950; ENSP00000433945; ENSG00000110497 [Q9C0C7-3] ENST00000534300; ENSP00000431926; ENSG00000110497 [Q9C0C7-2] |
GeneIDi | 55626 |
KEGGi | hsa:55626 |
UCSCi | uc001ncu.3, human [Q9C0C7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS31475.1 [Q9C0C7-4] CCDS73281.1 [Q9C0C7-2] |
RefSeqi | NP_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 XP_006718322.1, XM_006718259.2 [Q9C0C7-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120765, 221 interactors |
DIPi | DIP-53597N |
IntActi | Q9C0C7, 52 interactors |
MINTi | Q9C0C7 |
STRINGi | 9606.ENSP00000431926 |
PTM databases
iPTMneti | Q9C0C7 |
PhosphoSitePlusi | Q9C0C7 |
Genetic variation databases
BioMutai | AMBRA1 |
DMDMi | 166215833 |
Proteomic databases
EPDi | Q9C0C7 |
jPOSTi | Q9C0C7 |
MassIVEi | Q9C0C7 |
MaxQBi | Q9C0C7 |
PaxDbi | Q9C0C7 |
PeptideAtlasi | Q9C0C7 |
PRIDEi | Q9C0C7 |
ProteomicsDBi | 32296 79999 [Q9C0C7-1] 80000 [Q9C0C7-2] 80001 [Q9C0C7-3] 80002 [Q9C0C7-4] 80003 [Q9C0C7-5] |
Protocols and materials databases
Antibodypediai | 26331, 424 antibodies |
Genome annotation databases
Ensembli | ENST00000314845; ENSP00000318313; ENSG00000110497 [Q9C0C7-4] ENST00000458649; ENSP00000415327; ENSG00000110497 [Q9C0C7-1] ENST00000528950; ENSP00000433945; ENSG00000110497 [Q9C0C7-3] ENST00000534300; ENSP00000431926; ENSG00000110497 [Q9C0C7-2] |
GeneIDi | 55626 |
KEGGi | hsa:55626 |
UCSCi | uc001ncu.3, human [Q9C0C7-1] |
Organism-specific databases
CTDi | 55626 |
DisGeNETi | 55626 |
GeneCardsi | AMBRA1 |
HGNCi | HGNC:25990, AMBRA1 |
HPAi | ENSG00000110497, Low tissue specificity |
MIMi | 611359, gene |
neXtProti | NX_Q9C0C7 |
OpenTargetsi | ENSG00000110497 |
PharmGKBi | PA162376307 |
VEuPathDBi | HostDB:ENSG00000110497.14 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0266, Eukaryota |
GeneTreei | ENSGT00390000016223 |
HOGENOMi | CLU_008882_0_0_1 |
InParanoidi | Q9C0C7 |
OMAi | PPAECCQ |
OrthoDBi | 488527at2759 |
PhylomeDBi | Q9C0C7 |
TreeFami | TF328981 |
Enzyme and pathway databases
PathwayCommonsi | Q9C0C7 |
Reactomei | R-HSA-1632852, Macroautophagy |
SignaLinki | Q9C0C7 |
SIGNORi | Q9C0C7 |
Miscellaneous databases
BioGRID-ORCSi | 55626, 103 hits in 1012 CRISPR screens |
ChiTaRSi | AMBRA1, human |
GenomeRNAii | 55626 |
Pharosi | Q9C0C7, Tbio |
PROi | PR:Q9C0C7 |
RNActi | Q9C0C7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110497, Expressed in stomach and 241 other tissues |
ExpressionAtlasi | Q9C0C7, baseline and differential |
Genevisiblei | Q9C0C7, HS |
Family and domain databases
DisProti | DP01328 |
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View 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 |
SMARTi | View protein in SMART SM00320, WD40, 3 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 1 hit PS50082, WD_REPEATS_2, 1 hit PS50294, WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AMRA1_HUMAN | |
Accessioni | Q9C0C7Primary (citable) accession number: Q9C0C7 Secondary accession number(s): A6XN33 Q9NXE7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | January 15, 2008 | |
Last modified: | April 7, 2021 | |
This is version 156 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot