STH saitohin [Homo sapiens (human)] - Gene

Summary

Official Symbol: STHprovided by HGNC
Official Full Name: saitohinprovided by HGNC
Primary source: HGNC:HGNC:18839
See related: Ensembl:ENSG00000256762 MIM:607067; AllianceGenome:HGNC:18839
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAPTIT
Summary: Involved in positive regulation of mRNA splicing, via spliceosome. Located in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 17q21.31

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (45999250..45999694)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (46860878..46861322)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (44076616..44077060)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of Saitohin gene rs62063857 polymorphism with dry type age-related macular degeneration.
Title: Association of Saitohin gene rs62063857 polymorphism with dry type age-related macular degeneration.
Saitohin Q7R polymorphism is associated with late-onset Alzheimer's disease susceptibility among caucasian populations. (Meta-analysis)
Title: Saitohin Q7R polymorphism is associated with late-onset Alzheimer's disease susceptibility among caucasian populations: a meta-analysis.
Results showed a significant interaction effect of COMT and STH polymorphisms on cognitive performances, strengthening the involvement of STH in cognitive impairments, especially in the domains commonly impaired in schizophrenia
Title: COMT and STH polymorphisms interaction on cognition in schizophrenia.
The rs6203857 polymorphism of the saitohin gene is a genetic risk factor for Parkinson's disease.
Title: Association of rs62063857 variant of the saitohin gene with Parkinson's disease.
results of this meta-analysis suggested that MAPT_238bp/STH Q7R polymorphisms might modulate the risk of Parkinson's disease susceptibility
Title: Association of microtubule associated protein tau/Saitohin (MAPT/STH) MAPT_238bp/STH Q7R polymorphisms and Parkinson's disease: A meta-analysis.
These results suggest a possible contribution of STH gene products on the heterogeneity of core frontal executive functions deterioration in schizophrenia
Title: Saitohin polymorphism and executive dysfunction in schizophrenia.
Single polymorphisms within the saitohin gene were associated with increased cognitive impairment and functional dependence persons with moderate-to-advanced Alzheimer disease.
Title: Saitohin and APOE polymorphisms influence cognition and function in persons with advanced Alzheimer Disease.
effect of Saitohin on Abl-mediated phosphorylation appears to be allele-specific, providing evidence for a new cellular function for STH
Title: Saitohin, which is nested within the tau gene, interacts with tau and Abl and its human-specific allele influences Abl phosphorylation.
STH polymorphisms play a possibly shared role with those of serotinin transporter 5-HTTLPR gene as a susceptibility factor for Alzheimer's disease and frontotemperal lobar dementia.
Title: Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings.
The Saitohin Q7R polymorphism is unlikely to contribute significantly to Alzheimer's disease susceptibility of the Han population in south China.
Title: The Q7R polymorphism in the saitohin gene is rare in a southern Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants at 6q22 and 17q21 are associated with intracranial volume. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of mRNA splicing, via spliceosome	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: saitohin

Names: microtubule-associated protein tau (MAPT) intronic transcript

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.