STH (gene)

STH
Identifiers
Aliases	STH , MAPTIT, saitohin
External IDs	OMIM: 607067; HomoloGene: 88448; GeneCards: STH; OMA:STH - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q21.31 Start 45,999,250 bp [1] End 45,999,694 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle corpus callosum cerebellar hemisphere right hemisphere of cerebellum skeletal muscle tissue gastrocnemius muscle caudate nucleus right frontal lobe hypothalamus hippocampus proper n/a More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component nucleus cytoplasm perinuclear region of cytoplasm Biological process positive regulation of mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 246744 n/a Ensembl ENSG00000256762 ENSG00000281139 n/a UniProt Q8IWL8 n/a RefSeq (mRNA) NM_001007532 n/a RefSeq (protein) NP_001007533 n/a Location (UCSC) Chr 17: 46 – 46 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Saitohin is a protein that in humans is encoded by the STH gene. ^{[3] [4] [5]} This intronless gene encodes for 128 amino acids in an open reading frame. It is located in the human tau gene, in the intron between exons 9 and 10. Also, a single polymorphism of a nucleotide is seen through a change of glutamine residue 7(Q7R) to arginine. ^[6] It is found to be susceptible to multiple degenerative diseases, however, the exact function of the gene is still unknown. ^[7]

References

1. ENSG00000281139 GRCh38: Ensembl release 89: ENSG00000256762, ENSG00000281139 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Conrad C, Vianna C, Freeman M, Davies P (May 2002). "A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease". Proc Natl Acad Sci U S A. 99 (11): 7751–6. Bibcode:2002PNAS...99.7751C. doi: 10.1073/pnas.112194599 . PMC   124341 . PMID   12032355.
4. Gao L, Tse SW, Conrad C, Andreadis A (Nov 2005). "Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6". J Biol Chem. 280 (47): 39268–72. doi: 10.1074/jbc.M506116200 . PMID   16186110.
5. "Entrez Gene: STH saitohin".
6. Conrad C, Vianna C, Freeman M, Davies P (May 2002). "A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease". Proc Natl Acad Sci U S A. 99 (11): 7751–6. Bibcode:2002PNAS...99.7751C. doi: 10.1073/pnas.112194599 . PMC   124341 . PMID   12032355.
7. Gao L, Tse SW, Conrad C, Andreadis A (Nov 2005). "Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6". J Biol Chem. 280 (47): 39268–72. doi: 10.1074/jbc.M506116200 . PMID   16186110.

Further reading

• Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID   7566098.
• Cook L, Brayne CE, Easton D, et al. (2002). "No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease". Ann. Neurol. 52 (5): 690–1. doi:10.1002/ana.10362. PMID   12402275. S2CID   37700445.
• Verpillat P, Ricard S, Hannequin D, et al. (2002). "Is the saitohin gene involved in neurodegenerative diseases?". Ann. Neurol. 52 (6): 829–32. doi:10.1002/ana.10384. PMID   12447938. S2CID   35687241.
• Zekanowski C, Pepłońska B, Styczyńska M, et al. (2003). "Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia". Dementia and Geriatric Cognitive Disorders. 16 (3): 126–31. doi:10.1159/000070999. PMID   12826737. S2CID   24166927.
• Combarros O, Rodero L, Infante J, et al. (2003). "Age-dependent association between the Q7R polymorphism in the Saitohin gene and sporadic Alzheimer's disease". Dementia and Geriatric Cognitive Disorders. 16 (3): 132–5. doi:10.1159/000071000. PMID   12826738. S2CID   42452606.
• de Silva R, Hope A, Pittman A, et al. (2004). "Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy". Neurology. 61 (3): 407–9. doi:10.1212/01.wnl.0000073140.25533.90. PMID   12913211. S2CID   38636041.
• Pepłońska B, Zekanowski C, Religa D, et al. (2003). "Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population". Neurosci. Lett. 348 (3): 163–6. doi:10.1016/S0304-3940(03)00788-2. PMID   12932819. S2CID   10736456.
• Johansson A, Zetterberg H, Håkansson A, et al. (2006). "TAU haplotype and the Saitohin Q7R gene polymorphism do not influence CSF Tau in Alzheimer's disease and are not associated with frontotemporal dementia or Parkinson's disease". Neuro-Degenerative Diseases. 2 (1): 28–35. doi:10.1159/000086428. PMID   16909000. S2CID   6644618.