Mtap methylthioadenosine phosphorylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mtapprovided by MGI
Official Full Name: methylthioadenosine phosphorylaseprovided by MGI
Primary source: MGI:MGI:1914152
See related: Ensembl:ENSMUSG00000062937 AllianceGenome:MGI:1914152
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MSAP; 1300019I21Rik
Summary: Predicted to enable S-methyl-5-thioadenosine phosphorylase activity. Acts upstream of or within methylation. Predicted to be located in nucleoplasm. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in biliary tract benign neoplasm and diaphyseal medullary stenosis with malignant fibrous histiocytoma. Orthologous to human MTAP (methylthioadenosine phosphorylase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 13.2), bladder adult (RPKM 13.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C4; 4 42.15 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (89055607..89099327)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (89137370..89181090)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Germline Mutations in Mtap is associated with lymphomagenesis.
Title: Germline Mutations in Mtap Cooperate with Myc to Accelerate Tumorigenesis in Mice.
Data demonstrate that MTAP deficiency leads to accumulation of MTA inducing deregulation of central cellular pathways that control cell fate and contributes to the onset of a proliferative and antiapoptotic phenotype in the liver.
Title: Methylthioadenosine (MTA) Regulates Liver Cells Proteome and Methylproteome: Implications in Liver Biology and Disease.
MTAP-mediated regulation of methylthioadenosine links polyamine metabolism with NF-kappaB activation and apoptosis in hepatic stellate cells.
Title: Expression and function of methylthioadenosine phosphorylase in chronic liver disease.
Studies show that Mtap is a tumor suppressor gene independent of CDKN2A and ARF.
Title: Mice heterozygous for germ-line mutations in methylthioadenosine phosphorylase (MTAP) die prematurely of T-cell lymphoma.
Regulation of MTAP by reactive oxygen species might participate in the redox regulation of the methionine catabolic pathway in the liver
Title: Redox regulation of methylthioadenosine phosphorylase in liver cells: molecular mechanism and functional implications.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Gene trapped (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI326792 (e-PCR)
- UniSTS:207636

RH135876 (e-PCR)
- UniSTS:209874

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables S-methyl-5-thioadenosine phosphorylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables S-methyl-5-thioadenosine phosphorylase activity	ISO Inferred from Sequence Orthology more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables pentosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-methionine salvage from methylthioadenosine	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleoside metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within purine ribonucleoside salvage	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: S-methyl-5'-thioadenosine phosphorylase

Names: 5'-methylthioadenosine phosphorylase; MTA phosphorylase; MTAPase

NP_077753.1

EC 2.4.2.28

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.