ATXN2L

ATXN2L
Identifiers
Aliases	ATXN2L , A2D, A2LG, A2LP, A2RP, ataxin 2 like
External IDs	OMIM: 607931; MGI: 2446242; HomoloGene: 16513; GeneCards: ATXN2L; OMA:ATXN2L - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p11.2 Start 28,823,035 bp [1] End 28,837,237 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 F3 Start 126,491,708 bp [2] End 126,503,437 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis right hemisphere of cerebellum anterior pituitary granulocyte beta cell olfactory bulb body of uterus left lobe of thyroid gland right lobe of thyroid gland Top expressed in zygote secondary oocyte Rostral migratory stream tail of embryo genital tubercle neural layer of retina granulocyte spermatocyte spermatid primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding cadherin binding RNA binding Cellular component nucleus nuclear speck membrane cytoplasmic stress granule cytoplasm cytosol Biological process regulation of cytoplasmic mRNA processing body assembly stress granule assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11273 233871 Ensembl ENSG00000168488 ENSMUSG00000032637 UniProt Q8WWM7 Q7TQH0 RefSeq (mRNA) NM_001308230 NM_007245 NM_017492 NM_145714 NM_148414 NM_148415 NM_148416 NM_183020 NM_001347658 NM_001361487 RefSeq (protein) NP_001295159 NP_009176 NP_059867 NP_663760 NP_680780 NP_680781 NP_680782 NP_001334587 NP_898841 NP_001348416 Location (UCSC) Chr 16: 28.82 – 28.84 Mb Chr 7: 126.49 – 126.5 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Ataxin-2-like protein was initially identified in 1996 and designated Ataxin-2 Related protein (A2RP) as the search for the gene causing SCA2 lead to the identification of 2 cDNA clones with high similarity to ATXN2 (Pulst et al, 1996). It was later renamed as ATXN2L. It is a protein that in humans is encoded by the ATXN2L gene. ^{[5] [6] [7]}

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. ^[7]

Interactions

ATXN2L has been shown to interact with Myeloproliferative leukemia virus oncogene. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000168488 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032637 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Meunier C, Bordereaux D, Porteu F, Gisselbrecht S, Chretien S, Courtois G (Mar 2002). "Cloning and characterization of a family of proteins associated with Mpl". J Biol Chem. 277 (11): 9139–47. doi: 10.1074/jbc.M105970200 . PMID   11784712.
6. Figueroa KP, Pulst SM (Feb 2004). "Identification and expression of the gene for human ataxin-2-related protein on chromosome 16". Exp Neurol. 184 (2): 669–78. doi:10.1016/S0014-4886(03)00287-5. PMID   14769358. S2CID   10975750.
7. "Entrez Gene: ATXN2L ataxin 2-like".

• Pulst SM, Nechiporuk A, Nechiporuk T, et al. (1996). "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2". Nat. Genet. 14 (3): 269–76. doi:10.1038/ng1196-269. PMID   8896555. S2CID   12365475.

External links

• Human ATXN2L genome location and ATXN2L gene details page in the UCSC Genome Browser .

Further reading

• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
• Pulst SM, Nechiporuk A, Nechiporuk T, et al. (1996). "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2". Nat. Genet. 14 (3): 269–76. doi:10.1038/ng1196-269. PMID   8896555. S2CID   12365475.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Brill LM, Salomon AR, Ficarro SB, et al. (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID   15144186.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ong SE, Mittler G, Mann M (2005). "Identifying and quantifying in vivo methylation sites by heavy methyl SILAC". Nat. Methods. 1 (2): 119–26. doi:10.1038/nmeth715. PMID   15782174. S2CID   6654604.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Nonhoff U, Ralser M, Welzel F, et al. (2007). "Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules". Mol. Biol. Cell. 18 (4): 1385–96. doi:10.1091/mbc.E06-12-1120. PMC   1838996 . PMID   17392519.