Q920R0 (ALS2_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 102.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Alsin Alternative name(s): Amyotrophic lateral sclerosis 2 protein homolog | ||
| Gene names |
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| Organism | Mus musculus (Mouse) [Reference proteome] | ||
| Taxonomic identifier | 10090 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus![]() |
Protein attributes
| Sequence length | 1651 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May act as a GTPase regulator By similarity. Controls survival and growth of spinal motoneurons By similarity. UniProtKB Q96Q42 |
| Subunit structure | Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL By similarity. |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. Contains 8 MORN repeats. Contains 1 PH domain. Contains 5 RCC1 repeats. Contains 1 VPS9 domain. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q920R0-1) 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: Q920R0-2) The sequence of this isoform differs from the canonical sequence as follows: 855-928: TSPEYQKLQD...LQHAGRFSVN → VGFVCAPPNT...MRSDALFWSV 929-1651: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1651 | 1651 | Alsin | PRO_0000080904 | |||||
Regions | |||||||||
| Repeat | 59 – 108 | 50 | RCC1 1 | ||||||
| Repeat | 109 – 167 | 59 | RCC1 2 | ||||||
| Repeat | 169 – 218 | 50 | RCC1 3 | ||||||
| Repeat | 519 – 570 | 52 | RCC1 4 | ||||||
| Repeat | 572 – 621 | 50 | RCC1 5 | ||||||
| Domain | 684 – 879 | 196 | DH | ||||||
| Domain | 895 – 1001 | 107 | PH | ||||||
| Repeat | 1043 – 1065 | 23 | MORN 1 | ||||||
| Repeat | 1066 – 1088 | 23 | MORN 2 | ||||||
| Repeat | 1094 – 1116 | 23 | MORN 3 | ||||||
| Repeat | 1117 – 1139 | 23 | MORN 4 | ||||||
| Repeat | 1145 – 1167 | 23 | MORN 5 | ||||||
| Repeat | 1169 – 1191 | 23 | MORN 6 | ||||||
| Repeat | 1192 – 1214 | 23 | MORN 7 | ||||||
| Repeat | 1215 – 1238 | 24 | MORN 8 | ||||||
| Domain | 1507 – 1651 | 145 | VPS9 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 477 | 1 | Phosphoserine Ref.6 Ref.7 | ||||||
| Modified residue | 486 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 527 | 1 | N6-acetyllysine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 855 – 928 | 74 | TSPEY…RFSVN → VGFVCAPPNTREAKSQSSLF ALSLLKMLGPGAGEMAQWVR APDCSSEGLEFKSQQPHGGS QPPVMRSDALFWSV in isoform 2. | VSP_050525 | |||||
| Alternative sequence | 929 – 1651 | 723 | Missing in isoform 2. | VSP_050526 | |||||
Experimental info | |||||||||
| Sequence conflict | 318 | 1 | V → I in BAB69016. Ref.1 | ||||||
| Sequence conflict | 318 | 1 | V → I in AAH31479. Ref.4 | ||||||
| Sequence conflict | 469 | 1 | L → S in BAB69016. Ref.1 | ||||||
| Sequence conflict | 469 | 1 | L → S in AAH31479. Ref.4 | ||||||
| Sequence conflict | 764 | 1 | V → F in AAH46828. Ref.4 | ||||||
| Sequence conflict | 1206 | 1 | V → L in BAB29271. Ref.5 | ||||||
| Sequence conflict | 1296 | 1 | R → H in BAB69016. Ref.1 | ||||||
| Sequence conflict | 1452 | 1 | S → L in BAB69016. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2." Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. Ikeda J.-E.Nat. Genet. 29:166-173(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. Ponting C.P.PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J. |
| [3] | Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Strain: C57BL/6. Tissue: Brain and Mammary gland. |
| [5] | "The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. Hayashizaki Y.Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 847-1651 (ISOFORM 1). Strain: C57BL/6J. |
| [6] | "Large-scale phosphorylation analysis of mouse liver." Villen J., Beausoleil S.A., Gerber S.A., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 104:1488-1493(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-477, MASS SPECTROMETRY. Tissue: Liver. |
| [7] | "Solid tumor proteome and phosphoproteome analysis by high resolution mass spectrometry." Zanivan S., Gnad F., Wickstroem S.A., Geiger T., Macek B., Cox J., Faessler R., Mann M. J. Proteome Res. 7:5314-5326(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-477 AND SER-486, MASS SPECTROMETRY. Tissue: Melanoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB053307 mRNA. Translation: BAB69016.1. AC153652 Genomic DNA. No translation available. CH466548 Genomic DNA. Translation: EDL00124.1. BC031479 mRNA. Translation: AAH31479.1. BC046828 mRNA. Translation: AAH46828.1. AK014320 mRNA. Translation: BAB29271.2. |
| IPI | IPI00170364. IPI00309844. |
| RefSeq | NP_001153420.2. NM_001159948.2. NP_082993.4. NM_028717.6. NP_666221.1. NM_146109.3. |
| UniGene | Mm.272078. |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 10090.ENSMUSP00000027178. |
PTM databases | |
| PhosphoSite | Q920R0. |
Proteomic databases | |
| PaxDb | Q920R0. |
| PRIDE | Q920R0. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000027178; ENSMUSP00000027178; ENSMUSG00000026024. ENSMUST00000163058; ENSMUSP00000125753; ENSMUSG00000026024. |
| GeneID | 74018. |
| KEGG | mmu:74018. |
| UCSC | uc007bdm.2. mouse. uc007bdn.2. mouse. |
Organism-specific databases | |
| CTD | 57679. |
| MGI | MGI:1921268. Als2. |
Phylogenomic databases | |
| eggNOG | COG4642. |
| GeneTree | ENSGT00600000084242. |
| HOGENOM | HOG000033908. |
| HOVERGEN | HBG037320. |
| InParanoid | Q920R0. |
| KO | K04575. |
| OMA | AKPAIDF. |
| OrthoDB | EOG4FTVZP. |
Gene expression databases | |
| Genevestigator | Q920R0. |
| GermOnline | ENSMUSG00000026024. Mus musculus. |
Family and domain databases | |
| Gene3D | 1.20.900.10. 1 hit. 2.130.10.30. 2 hits. 2.30.29.30. 1 hit. |
| InterPro | IPR000219. DH-domain. IPR003409. MORN. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR009091. RCC1/BLIP-II. IPR000408. Reg_chr_condens. IPR003123. VPS9. [Graphical view] |
| Pfam | PF02493. MORN. 7 hits. PF00415. RCC1. 4 hits. PF00621. RhoGEF. 1 hit. PF02204. VPS9. 1 hit. [Graphical view] |
| PRINTS | PR00633. RCCNDNSATION. |
| SMART | SM00698. MORN. 8 hits. SM00233. PH. 1 hit. [Graphical view] |
| SUPFAM | SSF48065. DH-domain. 1 hit. SSF50985. RCC1/BLIP-II. 2 hits. |
| PROSITE | PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. False negative. PS00625. RCC1_1. False negative. PS00626. RCC1_2. 2 hits. PS50012. RCC1_3. 4 hits. PS51205. VPS9. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ALS2. mouse. |
| NextBio | 339546. |
| SOURCE | Search... |
Entry information
| Entry name | ALS2_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q920R0 Secondary accession number(s): G5E868, Q8JZR1, Q9CXJ3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
