A2AKX3 (SETX_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 48.
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: Probable helicase senataxin EC=3.6.4.- Alternative name(s): Amyotrophic lateral sclerosis 4 protein homolog SEN1 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 | 2646 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Probable helicase, which may be involved in RNA maturation By similarity. Involved in DNA double-strand breaks damage response generated by oxidative stress By similarity. |
| Subcellular location | Nucleus › nucleoplasm. Nucleus › nucleolus. Cytoplasm. Note: Most abundant in the nucleus By similarity. Detected in granules By similarity. Colocalized in cycling cells with FBL in the nucleolus By similarity. May be detected in the nucleolus only in cycling cells. Ref.6 |
| Tissue specificity | Expressed in cerebellum, hippocampus, olfactory bulb, Bergmann glial fibers, stellate cells and Purkinje cells. Expressed in the epithelial cells of the lens but not in mature lens fiber cells. Expressed in the retina (highly expressed in inner and outer segments of photoreceptors and outer plexiform layer cells but weakly expressed in the inner plexiform and ganglion cell layers). Expressed in the kidney. Ref.6 |
| Sequence similarities | Belongs to the DNA2/NAM7 helicase family. |
| Sequence caution | The sequence BAC32054.1 differs from that shown. Reason: Frameshift at position 699. The sequence BAC97987.1 differs from that shown. Reason: The sequence differs from that shown because it is derived from pre-RNA. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: A2AKX3-1) 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: A2AKX3-2) The sequence of this isoform differs from the canonical sequence as follows: 1-381: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2646 | 2646 | Probable helicase senataxin | PRO_0000307777 | |||||
Regions | |||||||||
| Nucleotide binding | 1939 – 1946 | 8 | ATP Potential | ||||||
| Region | 2632 – 2646 | 15 | Necessary for nuclear localization By similarity | ||||||
| Motif | 2046 – 2063 | 18 | Bipartite nuclear localization signal By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1002 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1004 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 381 | 381 | Missing in isoform 2. | VSP_028827 | |||||
Experimental info | |||||||||
| Sequence conflict | 644 | 1 | S → C in BAC32054. Ref.2 | ||||||
| Sequence conflict | 1048 | 1 | Q → R in BAC33309. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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. |
| [2] | "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 1-1050 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-858 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2464-2646. Strain: C57BL/6J. Tissue: Head, Retina and Testis. |
| [3] | "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] OF 1745-2646 (ISOFORM 1). Strain: 129 and C57BL/6. Tissue: Brain and Mammary tumor. |
| [4] | "Prediction of the coding sequences of mouse homologues of KIAA gene: III. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries." Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Nagase T., Ohara O., Koga H. DNA Res. 10:167-180(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1915-2646 (ISOFORM 1). Tissue: Embryonic tail. |
| [5] | "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2." Moreira M.-C., Klur S., Watanabe M., Nemeth A.H., Le Ber I., Moniz J.-C., Tranchant C., Aubourg P., Tazir M., Schoels L., Pandolfo M., Schulz J.B., Pouget J., Calvas P., Shizuka-Ikeda M., Shoji M., Tanaka M., Izatt L. Koenig M.Nat. Genet. 36:225-227(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION (ISOFORM 1). Strain: C57BL/6J. |
| [6] | "Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease." Chen Y.-Z., Hashemi S.H., Anderson S.K., Huang Y., Moreira M.-C., Lynch D.R., Glass I.A., Chance P.F., Bennett C.L. Neurobiol. Dis. 23:97-108(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL772379, AL845267 Genomic DNA. Translation: CAM16246.1. AL845267, AL772379 Genomic DNA. Translation: CAM23971.1. AL845267 Genomic DNA. Translation: CAM23973.2. AK044730 mRNA. Translation: BAC32054.1. Frameshift. AK048354 mRNA. Translation: BAC33309.2. AK077911 mRNA. Translation: BAC37058.1. BC046382 mRNA. Translation: AAH46382.1. BC058109 mRNA. Translation: AAH58109.2. BC079604 mRNA. Translation: AAH79604.2. AK129177 Transcribed RNA. Translation: BAC97987.1. Sequence problems. BK001523 mRNA. Translation: DAA01946.1. |
| IPI | IPI00421108. IPI00626271. |
| RefSeq | NP_932150.2. NM_198033.2. |
| UniGene | Mm.41867. |
3D structure databases | |
| ProteinModelPortal | A2AKX3. |
| SMR | A2AKX3. Positions 1907-2437. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-56995N. |
| IntAct | A2AKX3. 3 interactions. |
PTM databases | |
| PhosphoSite | A2AKX3. |
Proteomic databases | |
| PaxDb | A2AKX3. |
| PRIDE | A2AKX3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000061578; ENSMUSP00000051492; ENSMUSG00000043535. ENSMUST00000129544; ENSMUSP00000119521; ENSMUSG00000043535. |
| GeneID | 269254. |
| KEGG | mmu:269254. |
| UCSC | uc008izm.1. mouse. |
Organism-specific databases | |
| CTD | 23064. |
| MGI | MGI:2443480. Setx. |
| Rouge | Search... |
Phylogenomic databases | |
| eggNOG | COG1112. |
| GeneTree | ENSGT00580000081652. |
| HOVERGEN | HBG108476. |
| InParanoid | A2AKX3. |
| KO | K10706. |
| OrthoDB | EOG4XWFWX. |
Gene expression databases | |
| ArrayExpress | A2AKX3. |
| Bgee | A2AKX3. |
| CleanEx | MM_SETX. |
| Genevestigator | A2AKX3. |
Family and domain databases | |
| InterPro | IPR026121. Senataxin. [Graphical view] |
| PANTHER | PTHR10887:SF15. PTHR10887:SF15. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 392760. |
| SOURCE | Search... |
Entry information
| Entry name | SETX_MOUSE | ||||||||
| Accession | Primary (citable) accession number: A2AKX3 Secondary accession number(s): A2AKX4 Q8C8P6 | ||||||||
| 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
