MAPT-AS1 MAPT antisense RNA 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAPT-AS1provided by HGNC
Official Full Name: MAPT antisense RNA 1provided by HGNC
Primary source: HGNC:HGNC:43738
See related: AllianceGenome:HGNC:43738
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAPT-AS
Summary: Involved in regulatory ncRNA-mediated gene silencing. Implicated in Parkinson's disease. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 1.4), testis (RPKM 0.7) and 2 other tissues See more
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Genomic context

Location:: 17q21.31

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (45843356..45895513, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (46704980..46757136, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (43920722..43972879, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Title: MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
the level of MAPT-AS1 was correlated with the expression of MAPT, and MAPT was associated with survival time in breast cancer.
Title: Overexpression of MAPT-AS1 is associated with better patient survival in breast cancer.
MAPT-AS1 and DNMT1 have been identified as potential epigenetic regulators of MAPT expression in PD across four different brain regions. Our data also suggest that increased MAPT expression could be associated with disease state, but not with PD neuropathology severity.
Title: Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. 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)

General gene information

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Markers

D17S1380E (e-PCR)
- UniSTS:150438

D17S1668 (e-PCR)
- UniSTS:28641

Other Names

MAPT antisense RNA 1 (non-protein coding)

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in regulatory ncRNA-mediated gene silencing	IMP Inferred from Mutant Phenotype more info	PubMed

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.