Q9C0C7 (AMRA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 88.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Activating molecule in BECN1-regulated autophagy protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1298 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| Subunit structure | Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3 By similarity. |
| Subcellular location | Cytoplasmic vesicle › autophagosome By similarity. |
| Sequence similarities | Contains 3 WD repeats. |
| Sequence caution | The sequence BAA91067.1 differs from that shown. Reason: Frameshift at position 682. The sequence BAB14457.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB21827.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Autophagy Differentiation Neurogenesis |
| Cellular component | Cytoplasmic vesicle |
| Coding sequence diversity | Alternative splicing |
| Domain | Repeat WD repeat |
| Molecular function | Developmental protein |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | autophagy Inferred from electronic annotation. Source: UniProtKB-KW cell differentiationInferred from electronic annotation. Source: UniProtKB-KW negative regulation of cell proliferationInferred from electronic annotation. Source: Compara neural tube developmentInferred from electronic annotation. Source: Compara positive regulation of apoptotic processInferred from electronic annotation. Source: Compara |
| Cellular_component | autophagic vacuole Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmInferred from direct assay Ref.1. Source: MGI cytoplasmic vesicleInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| vif | P12504 | 5 | EBI-2512975,EBI-779991 | From a different organism. |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9C0C7-1) 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. | ||||||
| Isoform 2 (identifier: Q9C0C7-2) The sequence of this isoform differs from the canonical sequence as follows: 721-780: Missing. | ||||||
| Isoform 3 (identifier: Q9C0C7-3) The sequence of this isoform differs from the canonical sequence as follows: 691-719: Missing. | ||||||
| Isoform 4 (identifier: Q9C0C7-4) The sequence of this isoform differs from the canonical sequence as follows: 255-344: Missing. | ||||||
| Isoform 5 (identifier: Q9C0C7-5) The sequence of this isoform differs from the canonical sequence as follows: 255-344: Missing. 691-691: R → RRSLALSPRL...ITGVSHRAWP | ||||||
| Isoform 6 (identifier: Q9C0C7-6) The sequence of this isoform differs from the canonical sequence as follows: 255-344: Missing. 691-719: Missing. 864-868: WWDFT → VVGLH 869-1298: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1298 | 1298 | Activating molecule in BECN1-regulated autophagy protein 1 | PRO_0000315703 | |||||
Regions | |||||||||
| Repeat | 51 – 90 | 40 | WD 1 | ||||||
| Repeat | 93 – 133 | 41 | WD 2 | ||||||
| Repeat | 135 – 175 | 41 | WD 3 | ||||||
| Compositional bias | 268 – 277 | 10 | Poly-Pro | ||||||
| Compositional bias | 592 – 639 | 48 | Ser-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 639 | 1 | Phosphoserine Ref.9 Ref.10 Ref.11 | ||||||
Natural variations | |||||||||
| Alternative sequence | 255 – 344 | 90 | Missing in isoform 4, isoform 5 and isoform 6. | VSP_030654 | |||||
| Alternative sequence | 691 – 719 | 29 | Missing in isoform 3 and isoform 6. | VSP_030655 | |||||
| Alternative sequence | 691 | 1 | R → RRSLALSPRLEYSGAILAHC KLRLPGSCHSPASASQVAGT TGAHHHARLIFAFLVEMEFH HVSQAGLELLTSGDLPTSAS QSAGITGVSHRAWP in isoform 5. | VSP_030656 | |||||
| Alternative sequence | 721 – 780 | 60 | Missing in isoform 2. | VSP_030657 | |||||
| Alternative sequence | 864 – 868 | 5 | WWDFT → VVGLH in isoform 6. | VSP_045989 | |||||
| Alternative sequence | 869 – 1298 | 430 | Missing in isoform 6. | VSP_045990 | |||||
Experimental info | |||||||||
| Sequence conflict | 165 | 1 | W → R in BAA91067. Ref.3 | ||||||
| Sequence conflict | 793 | 1 | N → K in AL834190. Ref.4 | ||||||
| Sequence conflict | 869 | 1 | K → E in BAB14457. Ref.3 | ||||||
| Sequence conflict | 983 | 1 | Q → L in BAB14457. Ref.3 | ||||||
| Sequence conflict | 1105 | 1 | Q → E in AAH45609. Ref.7 | ||||||
| Sequence conflict | 1268 | 1 | L → V in AAH45609. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Ambra1 regulates autophagy and development of the nervous system." Maria Fimia G., Stoykova A., Romagnoli A., Giunta L., Di Bartolomeo S., Nardacci R., Corazzari M., Fuoco C., Ucar A., Schwartz P., Gruss P., Piacentini M., Chowdhury K., Cecconi F. Nature 447:1121-1125(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Brain. |
| [2] | "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 464-1298. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Melanoma. |
| [5] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Testis. |
| [8] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-639, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-639, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [11] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-639, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00106552. IPI00177605. IPI00398257. IPI00855865. IPI00877906. |
| RefSeq | NP_001254711.1. NM_001267782.1. NP_001254712.1. NM_001267783.1. NP_060219.2. NM_017749.3. |
| UniGene | Hs.654644. |
3D structure databases | |
| ProteinModelPortal | Q9C0C7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9C0C7. 15 interactions. |
| MINT | MINT-8177757. |
| STRING | 9606.ENSP00000318313. |
PTM databases | |
| PhosphoSite | Q9C0C7. |
Polymorphism databases | |
| DMDM | 166215833. |
Proteomic databases | |
| PaxDb | Q9C0C7. |
| PRIDE | Q9C0C7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000298834; ENSP00000298834; ENSG00000110497. ENST00000314845; ENSP00000318313; ENSG00000110497. ENST00000426438; ENSP00000410899; ENSG00000110497. ENST00000458649; ENSP00000415327; ENSG00000110497. ENST00000528950; ENSP00000433945; ENSG00000110497. ENST00000533727; ENSP00000433372; ENSG00000110497. ENST00000534300; ENSP00000431926; ENSG00000110497. |
| GeneID | 55626. |
| KEGG | hsa:55626. |
| UCSC | uc001ncu.1. human. uc001ncv.2. human. uc001ncx.2. human. uc009ylc.1. human. uc010rgu.1. human. |
Organism-specific databases | |
| CTD | 55626. |
| GeneCards | GC11M046417. |
| H-InvDB | HIX0009602. |
| HGNC | HGNC:25990. AMBRA1. |
| HPA | CAB017825. |
| MIM | 611359. gene. |
| neXtProt | NX_Q9C0C7. |
| PharmGKB | PA162376307. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG317724. |
| HOGENOM | HOG000033925. |
| HOVERGEN | HBG103818. |
| OMA | YPDPARD. |
Enzyme and pathway databases | |
| SignaLink | Q9C0C7. |
Gene expression databases | |
| ArrayExpress | Q9C0C7. |
| Bgee | Q9C0C7. |
| CleanEx | HS_AMBRA1. |
| Genevestigator | Q9C0C7. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 2 hits. |
| InterPro | IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view] |
| Pfam | PF00400. WD40. 1 hit. [Graphical view] |
| SMART | SM00320. WD40. 3 hits. [Graphical view] |
| SUPFAM | SSF50978. WD40_like. 1 hit. |
| PROSITE | PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | AMBRA1. human. |
| GenomeRNAi | 55626. |
| NextBio | 60248. |
| SOURCE | Search... |
Entry information
| Entry name | AMRA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9C0C7 Secondary accession number(s): A6XN33 Q9NXE7 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
