ATXN2L

Protein-coding gene in the species Homo sapiens
ATXN2L
Identifiers
AliasesATXN2L, A2D, A2LG, A2LP, A2RP, ataxin 2 like
External IDsOMIM: 607931; MGI: 2446242; HomoloGene: 16513; GeneCards: ATXN2L; OMA:ATXN2L - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for ATXN2L
Genomic location for ATXN2L
Band16p11.2Start28,823,035 bp[1]
End28,837,237 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for ATXN2L
Genomic location for ATXN2L
Band7|7 F3Start126,491,708 bp[2]
End126,503,437 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 7: 126.49 – 126.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000168488 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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. ^ a b "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.

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.


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