UniProtKB - Q9C0C7 (AMRA1_HUMAN)
Activating molecule in BECN1-regulated autophagy protein 1
AMBRA1
Functioni
Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex involved in cell cycle control and autophagy (PubMed:20921139, PubMed:23524951, PubMed:24587252, PubMed:33854232, PubMed:33854235, PubMed:33854239, PubMed:32333458).
The DCX(AMBRA1) complex specifically mediates the polyubiquitination of target proteins such as BECN1, CCND1, CCND2, CCND3, ELOC and ULK1 (PubMed:23524951, PubMed:33854232, PubMed:33854235, PubMed:33854239).
Acts as an upstream master regulator of the transition from G1 to S cell phase: AMBRA1 specifically recognizes and binds phosphorylated cyclin-D (CCND1, CCND2 and CCND3), leading to cyclin-D ubiquitination by the DCX(AMBRA1) complex and subsequent degradation (PubMed:33854232, PubMed:33854235, PubMed:33854239).
By controlling the transition from G1 to S phase and cyclin-D degradation, AMBRA1 acts as a tumor suppressor that promotes genomic integrity during DNA replication and counteracts developmental abnormalities and tumor growth (PubMed:33854232, PubMed:33854235, PubMed:33854239).
AMBRA1 also regulates the cell cycle by promoting MYC dephosphorylation and degradation independently of the DCX(AMBRA1) complex: acts via interaction with the catalytic subunit of protein phosphatase 2A (PPP2CA), which enhances interaction between PPP2CA and MYC, leading to MYC dephosphorylation and degradation (PubMed:25803737, PubMed:25438055).
Acts as a regulator of Cul5-RING (CRL5) E3 ubiquitin-protein ligase complexes by mediating ubiquitination and degradation of Elongin-C (ELOC) component of CRL5 complexes (PubMed:25499913, PubMed:30166453).
Acts as a key regulator of autophagy by modulating the BECN1-PIK3C3 complex: controls protein turnover during neuronal development, and regulates normal cell survival and proliferation (PubMed:21358617).
In normal conditions, AMBRA1 is tethered to the cytoskeleton via interaction with dyneins DYNLL1 and DYNLL2 (PubMed:20921139).
Upon autophagy induction, AMBRA1 is released from the cytoskeletal docking site to induce autophagosome nucleation by mediating ubiquitination of proteins involved in autophagy (PubMed:20921139).
The DCX(AMBRA1) complex mediates 'Lys-63'-linked ubiquitination of BECN1, increasing the association between BECN1 and PIK3C3 to promote PIK3C3 activity (By similarity).
In collaboration with TRAF6, AMBRA1 mediates 'Lys-63'-linked ubiquitination of ULK1 following autophagy induction, promoting ULK1 stability and kinase activity (PubMed:23524951).
Also activates ULK1 via interaction with TRIM32: TRIM32 stimulates ULK1 through unanchored 'Lys-63'-linked polyubiquitin chains (PubMed:31123703).
Also acts as an activator of mitophagy via interaction with PRKN and LC3 proteins (MAP1LC3A, MAP1LC3B or MAP1LC3C); possibly by bringing damaged mitochondria onto autophagosomes (PubMed:21753002, PubMed:25215947).
Also activates mitophagy by acting as a cofactor for HUWE1; acts by promoting HUWE1-mediated ubiquitination of MFN2 (PubMed:30217973).
AMBRA1 is also involved in regulatory T-cells (Treg) differentiation by promoting FOXO3 dephosphorylation independently of the DCX(AMBRA1) complex: acts via interaction with PPP2CA, which enhances interaction between PPP2CA and FOXO3, leading to FOXO3 dephosphorylation and stabilization (PubMed:30513302).
May act as a regulator of intracellular trafficking, regulating the localization of active PTK2/FAK and SRC (By similarity).
Also involved in transcription regulation by acting as a scaffold for protein complexes at chromatin (By similarity).
By similarity17 Publications: protein ubiquitination Pathwayi
This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.5 PublicationsView all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.
GO - Molecular functioni
- GTPase binding Source: UniProtKB
- protein phosphatase binding Source: UniProtKB
- ubiquitin ligase-substrate adaptor activity Source: UniProtKB
- ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
GO - Biological processi
- autophagosome assembly Source: UniProtKB
- autophagy Source: GO_Central
- autophagy of mitochondrion Source: ParkinsonsUK-UCL
- cell cycle Source: UniProtKB-KW
- cell differentiation Source: UniProtKB-KW
- mitophagy Source: ParkinsonsUK-UCL
- nervous system development Source: UniProtKB-KW
- positive regulation of autophagy Source: UniProtKB
- positive regulation of free ubiquitin chain polymerization Source: UniProtKB
- positive regulation of mitophagy Source: UniProtKB
- positive regulation of phosphatidylinositol 3-kinase activity Source: ParkinsonsUK-UCL
- positive regulation of protein dephosphorylation Source: UniProtKB
- positive regulation of regulatory T cell differentiation Source: UniProtKB
- protein polyubiquitination Source: UniProtKB
- regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
- response to mitochondrial depolarisation Source: ParkinsonsUK-UCL
Keywordsi
Molecular function | Developmental protein |
Biological process | Autophagy, Cell cycle, Differentiation, Neurogenesis, Transcription, Transcription regulation, Ubl conjugation pathway |
Enzyme and pathway databases
PathwayCommonsi | Q9C0C7 |
Reactomei | R-HSA-1632852, Macroautophagy |
SignaLinki | Q9C0C7 |
SIGNORi | Q9C0C7 |
UniPathwayi | UPA00143 |
Names & Taxonomyi
Protein namesi | Recommended name: Activating molecule in BECN1-regulated autophagy protein 11 PublicationAlternative name(s): DDB1- and CUL4-associated factor 31 Publication |
Gene namesi | |
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 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Cytoplasm and Cytosol
- cytosol By similarity
Mitochondrion
- Mitochondrion 2 Publications
Nucleus
- Nucleus 1 Publication
Other locations
- autophagosome By similarity
- focal adhesion By similarity
Note: Localizes to the cytoskeleton in absence of autophagy induction (PubMed:20921139). Upon autophagy induction, AMBRA1 relocalizes to the endoplasmic reticulum to enable autophagosome nucleation (PubMed:20921139). Partially localizes at mitochondria in normal conditions (PubMed:21358617). Localizes also to discrete punctae along the ciliary axoneme (By similarity).By similarity2 Publications
Cytoskeleton
- axoneme Source: UniProtKB
- cytoskeleton Source: UniProtKB
Cytosol
- cytosol Source: ParkinsonsUK-UCL
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB-SubCell
Mitochondrion
- mitochondrial outer membrane Source: ParkinsonsUK-UCL
- mitochondrion Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- autophagosome Source: UniProtKB-SubCell
- Cul4-RING E3 ubiquitin ligase complex Source: UniProtKB
- cytoplasm Source: UniProtKB
- cytoplasmic vesicle Source: UniProtKB-KW
- focal adhesion Source: UniProtKB-SubCell
- intracellular membrane-bounded organelle Source: GO_Central
- perinuclear region of cytoplasm Source: ParkinsonsUK-UCL
Keywords - Cellular componenti
Cell junction, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endoplasmic reticulum, Mitochondrion, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1 – 43 | Missing : Abolished interaction with DDB1. 1 PublicationAdd BLAST | 43 | |
Mutagenesisi | 1 – 22 | Missing : Abolished interaction with DDB1. 1 PublicationAdd BLAST | 22 | |
Mutagenesisi | 52 | S → A: Impaired phosphorylation by MTOR, leading to strong induction of autophagy. Does not affect interaction with DDB1. 1 Publication | 1 | |
Mutagenesisi | 52 | S → E: Phospho-mimetic mutant; abolished ability to promote autophagy. Does not affect interaction with DDB1. 1 Publication | 1 | |
Mutagenesisi | 275 – 277 | PQP → AQA: Abolished interaction with PPP2CA and MYC, leading to decreased MYC dephosphorylation; when associated with 1206-A--A-1208. Abolished interaction with PPP2CA and FOXO3, leading to decreased FOXO3 dephosphorylation; when associated with 1206-A--A-1208. 2 Publications | 3 | |
Mutagenesisi | 482 | D → A: Abolished cleavage by caspases without affecting cleavage by calpains. 1 Publication | 1 | |
Mutagenesisi | 620 | E → A: Abolished interaction with TRAF6. 1 Publication | 1 | |
Mutagenesisi | 642 | E → A: Does not affect interaction with TRAF6. 1 Publication | 1 | |
Mutagenesisi | 682 | E → A: Abolished interaction with TRAF6. 1 Publication | 1 | |
Mutagenesisi | 918 | E → A: Does not affect interaction with TRAF6. 1 Publication | 1 | |
Mutagenesisi | 1043 | S → A: Abolished phosphorylation by CHUK/IKKA, leading to impaired interaction with ATG8 family proteins and reduced mitophagic activity. 1 Publication | 1 | |
Mutagenesisi | 1043 | S → D: Phospho-mimetic mutant; increased interaction with ATG8 family proteins and increased mitophagic activity. 1 Publication | 1 | |
Mutagenesisi | 1049 – 1052 | WDQL → ADQA: Abolished interaction with LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). 1 Publication | 4 | |
Mutagenesisi | 1105 | Q → A in TAT1 mutant; abolished interaction with DYNLL1 and DYNLL2, leading to constitutive induction of autophagy. 1 Publication | 1 | |
Mutagenesisi | 1117 | Q → A in TAT2 mutant; abolished interaction with DYNLL1 and DYNLL2, leading to constitutive induction of autophagy. 1 Publication | 1 | |
Mutagenesisi | 1134 | E → A: Does not affect interaction with TRAF6. 1 Publication | 1 | |
Mutagenesisi | 1206 – 1208 | PQP → AQA: Abolished interaction with PPP2CA and MYC, leading to decreased MYC dephosphorylation; when associated with 275-A--A-277. Abolished interaction with PPP2CA and FOXO3, leading to decreased FOXO3 dephosphorylation; when associated with 275-A--A-277. 1 Publication | 3 |
Keywords - Diseasei
Tumor suppressorOrganism-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 |
---|---|---|---|---|
Cross-linki | 45 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Modified residuei | 52 | Phosphoserine; by MTOR1 Publication | 1 | |
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 | 1043 | Phosphoserine; by IKKA1 Publication | 1 | |
Modified residuei | 1205 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 482 – 483 | Cleavage; by caspase-6, caspase-7 and caspase-81 Publication | 2 |
Keywords - PTMi
Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic 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
GlyGeni | Q9C0C7, 3 sites, 1 O-linked glycan (3 sites) |
iPTMneti | Q9C0C7 |
PhosphoSitePlusi | Q9C0C7 |
Expressioni
Inductioni
Gene expression databases
Bgeei | ENSG00000110497, Expressed in stomach and 242 other tissues |
ExpressionAtlasi | Q9C0C7, baseline and differential |
Genevisiblei | Q9C0C7, HS |
Organism-specific databases
HPAi | ENSG00000110497, Low tissue specificity |
Interactioni
Subunit structurei
Component of the DCX(AMBRA1) E3 ubiquitin ligase complex, also named CRL4(AMBRA1), at least composed of CUL4 (CUL4A or CUL4B), DDB1, AMBRA1 and RBX1 (PubMed:25499913, PubMed:16949367, PubMed:30166453, PubMed:33854232, PubMed:33854239).
Interacts with BECN1 (PubMed:21358617, PubMed:25438055). Probably forms a complex with BECN1 and PIK3C3 (By similarity).
Interacts with BECN2 (PubMed:23954414).
Interacts with BCL2; leading to prevent interaction with BCN1 and autophagy, interaction is disrupted upon autophagy induction (PubMed:21358617).
Interacts with ULK1 (PubMed:25438055).
Interacts (via PxP motifs) with PPP2CA; enhancing interaction between PPP2CA and MYC or FOXO3 (PubMed:25438055, PubMed:30513302).
Forms a complex with PPP2CA and BECN1; AMBRA1 and BECN1 components of the complex regulate MYC stability via different pathways (PubMed:25803737).
Interacts (TQT motifs) with DYNLL1 and DYNLL2; tethering AMBRA1 and the BECN1-PIK3C3 complex in absence of autophagy (PubMed:20921139).
Interacts with TRAF6; interaction is required to mediate 'Lys-63'-linked ubiquitination of ULK1 (PubMed:23524951).
Interacts with TRIM32; promoting activation of ULK1 by TRIM32 via unanchored 'Lys-63'-linked polyubiquitin chains (PubMed:31123703).
Interacts with PRKN (By similarity).
Interacts (via LIR motif) with LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C) (PubMed:25215947, PubMed:30217973).
Interacts with HUWE1 (PubMed:30217973).
Interacts with PTK2/FAK (By similarity).
Interacts with SRC; required for SRC trafficking to autophagosomes (By similarity).
By similarity15 PublicationsBinary interactionsi
Q9C0C7
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
- protein phosphatase binding Source: UniProtKB
- ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
Protein-protein interaction databases
BioGRIDi | 120765, 233 interactors |
DIPi | DIP-53597N |
IntActi | Q9C0C7, 53 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 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 22 | Interaction with DDB11 PublicationAdd BLAST | 22 | |
Regioni | 254 – 284 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 343 – 413 | DisorderedSequence analysisAdd BLAST | 71 | |
Regioni | 458 – 494 | DisorderedSequence analysisAdd BLAST | 37 | |
Regioni | 538 – 561 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 590 – 690 | DisorderedSequence analysisAdd BLAST | 101 | |
Regioni | 747 – 796 | DisorderedSequence analysisAdd BLAST | 50 | |
Regioni | 1060 – 1079 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 1112 – 1143 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 1190 – 1214 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 1227 – 1298 | DisorderedSequence analysisAdd BLAST | 72 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 275 – 281 | PxP motif 12 Publications | 7 | |
Motifi | 1043 – 1052 | LIR1 Publication | 10 | |
Motifi | 1104 – 1106 | TQT motif 11 Publication | 3 | |
Motifi | 1116 – 1118 | TQT motif 21 Publication | 3 | |
Motifi | 1206 – 1212 | PxP motif 22 Publications | 7 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 266 – 280 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 343 – 389 | Polar residuesSequence analysisAdd BLAST | 47 | |
Compositional biasi | 480 – 494 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 590 – 648 | Polar residuesSequence analysisAdd BLAST | 59 | |
Compositional biasi | 656 – 677 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 747 – 769 | Polar residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 1242 – 1260 | Pro residuesSequence analysisAdd BLAST | 19 |
Domaini
Sequence similaritiesi
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 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
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
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 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085051 | 80 | T → M Found in a child with spina bifida; unknown pathological significance; reduced induction of autophagy. 1 Publication | 1 | |
Natural variantiVAR_085052 | 364 | L → F Found in a fetus with encephalocele; unknown pathological significance; reduced induction of autophagy. 1 Publication | 1 | |
Natural variantiVAR_085053 | 833 | S → F Found in a child with spina bifida; unknown pathological significance; reduced induction of autophagy. 1 Publication | 1 | |
Natural variantiVAR_085054 | 974 | M → V Found in a fetus with encephalocele and spina bifida; unknown pathological significance; reduced induction of autophagy. 1 Publication | 1 | |
Natural variantiVAR_085055 | 1043 | S → F Found in a fetus with anencephaly and spina bifida; unknown pathological significance; does not impair induction of autophagy. 1 Publication | 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 ENST00000528950; ENSP00000433945; ENSG00000110497 [Q9C0C7-3] ENST00000534300; ENSP00000431926; ENSG00000110497 [Q9C0C7-2] ENST00000683756; ENSP00000508322; ENSG00000110497 |
GeneIDi | 55626 |
KEGGi | hsa:55626 |
MANE-Selecti | ENST00000683756.1; ENSP00000508322.1; NM_001387011.1; NP_001373940.1 |
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
SMRi | Q9C0C7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120765, 233 interactors |
DIPi | DIP-53597N |
IntActi | Q9C0C7, 53 interactors |
MINTi | Q9C0C7 |
STRINGi | 9606.ENSP00000431926 |
PTM databases
GlyGeni | Q9C0C7, 3 sites, 1 O-linked glycan (3 sites) |
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, 431 antibodies from 36 providers |
DNASUi | 55626 |
Genome annotation databases
Ensembli | ENST00000314845; ENSP00000318313; ENSG00000110497 [Q9C0C7-4] ENST00000458649; ENSP00000415327; ENSG00000110497 ENST00000528950; ENSP00000433945; ENSG00000110497 [Q9C0C7-3] ENST00000534300; ENSP00000431926; ENSG00000110497 [Q9C0C7-2] ENST00000683756; ENSP00000508322; ENSG00000110497 |
GeneIDi | 55626 |
KEGGi | hsa:55626 |
MANE-Selecti | ENST00000683756.1; ENSP00000508322.1; NM_001387011.1; NP_001373940.1 |
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 |
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
UniPathwayi | UPA00143 |
PathwayCommonsi | Q9C0C7 |
Reactomei | R-HSA-1632852, Macroautophagy |
SignaLinki | Q9C0C7 |
SIGNORi | Q9C0C7 |
Miscellaneous databases
BioGRID-ORCSi | 55626, 108 hits in 1104 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 242 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 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 |
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: | February 23, 2022 | |
This is version 159 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 - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families