Reviewed,
UniProtKB/Swiss-Prot Q9C0C7 (AMRA1_HUMAN)
Last modified
June 16, 2009.
Version 50.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Activating molecule in BECN1-regulated autophagy protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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. |
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 |
| Gene Ontology (GO) | |
| Biological process | autophagy Inferred from electronic annotation. Source: UniProtKB-KW cell differentiationInferred from electronic annotation. Source: UniProtKB-KW nervous system developmentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | autophagic vacuole Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmic vesicleInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 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 |
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.5 Ref.6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 255 – 344 | 90 | Missing in isoform 4 and isoform 5. | VSP_030654 | |||||
| Alternative sequence | 691 – 719 | 29 | Missing in isoform 3. | 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 | |||||
Experimental info | |||||||||
| Sequence conflict | 165 | 1 | W → R in BAA91067. Ref.3 | ||||||
| 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.4 | ||||||
| Sequence conflict | 1268 | 1 | L → V in AAH45609. Ref.4 | ||||||
Sequences
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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: 17589504] [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: 11214970] [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 464-1298. |
| [4] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Testis. |
| [5] | "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: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-639, MASS SPECTROMETRY. |
| [6] | "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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-639, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| 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. BC045609 mRNA. Translation: AAH45609.1. | |
| IPI | IPI00106552. IPI00177605. IPI00398257. IPI00855865. IPI00877906. |
| RefSeq | NP_060219.2. |
| UniGene | Hs.654644 |
3D structure databases | |
| ModBase | Search... |
Genome annotation databases | |
| GeneID | 55626. |
| KEGG | hsa:55626. |
Organism-specific databases | |
| GeneCards | GC11M046375. |
| HGNC | HGNC:25990. AMBRA1. |
| HPA | CAB017825. |
| MIM | 611359. gene. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9C0C7. |
| HOVERGEN | Q9C0C7. |
Gene expression databases | |
| ArrayExpress | Q9C0C7. |
| CleanEx | HS_AMBRA1. |
Family and domain databases | |
| InterPro | IPR015943. WD40/YVTN_repeat-like. IPR001680. WD40_repeat. IPR019782. WD40_repeat_2. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_region. IPR019781. WD40_repeat_sg. [Graphical view] |
| Gene3D | G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit. |
| Pfam | PF00400. WD40. 1 hit. [Graphical view] |
| ProDom | PD000018. WD40. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00320. WD40. 3 hits. [Graphical view] |
| PROSITE | PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| 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 project | HPI (Human Proteome Initiative) | ||||||||
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


