MTAP methylthioadenosine phosphorylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTAPprovided by HGNC
Official Full Name: methylthioadenosine phosphorylaseprovided by HGNC
Primary source: HGNC:HGNC:7413
See related: Ensembl:ENSG00000099810 MIM:156540; AllianceGenome:HGNC:7413
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BDMF; MSAP; DMSFH; LGMBF; DMSMFH; c86fus; HEL-249
Summary: This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]
Expression: Ubiquitous expression in ovary (RPKM 5.5), esophagus (RPKM 5.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p21.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (21802636..21941115)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (21816863..21955417)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (21802635..21941114)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Methylthioadenosine Phosphorylase Genomic Loss in Advanced Gastrointestinal Cancers.
Title: Methylthioadenosine Phosphorylase Genomic Loss in Advanced Gastrointestinal Cancers.
Concordance between CDKN2A homozygous deletion and MTAP immunohistochemical loss in fluoroedenite-induced pleural mesothelioma: An immunohistochemical and molecular study on a single-institution series.
Title: Concordance between CDKN2A homozygous deletion and MTAP immunohistochemical loss in fluoroedenite-induced pleural mesothelioma: An immunohistochemical and molecular study on a single-institution series.
[Methylthioadenosine phosphorylase and p16 as surrogate diagnostic markers for CDKN2A homozygous deletion in brain tumors].
Title: [Methylthioadenosine phosphorylase and p16 as surrogate diagnostic markers for CDKN2A homozygous deletion in brain tumors].
Methylthioadenosine Phosphorylase and Breast Cancer 1 Protein-Associated Protein 1 as Biomarkers for the Peritoneal Mesothelioma.
Title: Methylthioadenosine Phosphorylase and Breast Cancer 1 Protein-Associated Protein 1 as Biomarkers for the Peritoneal Mesothelioma.
MTAP-ANRIL gene fusion promotes melanoma epithelial-mesenchymal transition-like process by activating the JNK and p38 signaling pathways.
Title: MTAP-ANRIL gene fusion promotes melanoma epithelial-mesenchymal transition-like process by activating the JNK and p38 signaling pathways.
BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma.
Title: BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma.
MTAP deficiency contributes to immune landscape remodelling and tumour evasion.
Title: MTAP deficiency contributes to immune landscape remodelling and tumour evasion.
Correlation of MTAP immunohistochemical deficiency with CDKN2A homozygous deletion and clinicopathological features in pleomorphic xanthoastrocytoma.
Title: Correlation of MTAP immunohistochemical deficiency with CDKN2A homozygous deletion and clinicopathological features in pleomorphic xanthoastrocytoma.
Diagnostic capacity of BAP1 and MTAP in cytology from effusions and biopsy in mesothelioma.
Title: Diagnostic capacity of BAP1 and MTAP in cytology from effusions and biopsy in mesothelioma.
Deletion of MTAP Highly Sensitizes Osteosarcoma Cells to Methionine Restriction With Recombinant Methioninase.
Title: Deletion of MTAP Highly Sensitizes Osteosarcoma Cells to Methionine Restriction With Recombinant Methioninase.

Submit: New GeneRIF Correction See all GeneRIFs (73)

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

Associated conditions

Description	Tests
Diaphyseal medullary stenosis-bone malignancy syndrome MedGen: C1862177 OMIM: 112250 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-10-12) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-10-12) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three loci associated with melanoma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three new melanoma susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. 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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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH79128 (e-PCR)
- UniSTS:55565

SHGC-82272 (e-PCR)
- UniSTS:104219

SHGC-78937 (e-PCR)
- UniSTS:100897

D9S916 (e-PCR)
- UniSTS:42795

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D9S171 (e-PCR), detects polymorphism
- UniSTS:13653

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-14428 (e-PCR)
- UniSTS:75408

D9S1607 (e-PCR)
- UniSTS:153241

D9S1749 (e-PCR)
- UniSTS:154084

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1,4-alpha-oligoglucan phosphorylase activity	TAS Traceable Author Statement more info	PubMed
enables S-methyl-5-thioadenosine phosphorylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-methionine salvage from methylthioadenosine	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-methionine salvage from methylthioadenosine	IEA Inferred from Electronic Annotation more info
involved_in methylation	IEA Inferred from Electronic Annotation more info
NOT involved_in nicotinamide riboside catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in purine ribonucleoside salvage	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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

Names: 5'-methylthioadenosine phosphorylase; MTA phosphorylase; MTAPase; MeSAdo phosphorylase; epididymis luminal protein 249; epididymis secretory sperm binding protein

NP_001382969.1

EC 2.4.2.28

NP_001382970.1

EC 2.4.2.28

NP_001382971.1

EC 2.4.2.28

NP_001382972.1

EC 2.4.2.28

NP_001382973.1

EC 2.4.2.28

NP_001382974.1

EC 2.4.2.28

NP_002442.2

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.

Genomic

NG_032650.2 RefSeqGene

Range

5001..69446

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001396040.1 → NP_001382969.1 S-methyl-5'-thioadenosine phosphorylase isoform 2

Status: REVIEWED

Source sequence(s)

AL359922

Consensus CDS

CCDS94392.1

UniProtKB/TrEMBL

B4DUC8, Q6FHP1, Q6FHT1

Related

ENSP00000461932.1, ENST00000460874.6

Conserved Domains (1) summary

cd09010
Location:29 → 272

MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
NM_001396041.1 → NP_001382970.1 S-methyl-5'-thioadenosine phosphorylase isoform 3

Status: REVIEWED

Source sequence(s)

AL359922, AL449423

Consensus CDS

CCDS94391.1

UniProtKB/TrEMBL

Q6FHP1, Q6FHT1

Related

ENSP00000463424.1, ENST00000580900.5

Conserved Domains (1) summary

cd09010
Location:12 → 255

MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
NM_001396042.1 → NP_001382971.1 S-methyl-5'-thioadenosine phosphorylase isoform 4

Status: REVIEWED

Source sequence(s)

AL359922, AL449423

UniProtKB/TrEMBL

A0A140CZL5

Conserved Domains (1) summary

cd09010
Location:12 → 229

MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
NM_001396043.1 → NP_001382972.1 S-methyl-5'-thioadenosine phosphorylase isoform 5

Status: REVIEWED

Source sequence(s)

AL359922, AL449423

UniProtKB/TrEMBL

A0A140CZL4

Related

ENSP00000464616.1, ENST00000580718.1

Conserved Domains (1) summary

cd09010
Location:12 → 255

MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
NM_001396044.1 → NP_001382973.1 S-methyl-5'-thioadenosine phosphorylase isoform 6

Status: REVIEWED

Source sequence(s)

AL359922, AL449423

UniProtKB/TrEMBL

Q6FHP1, Q6FHT1

Conserved Domains (1) summary

cd09010
Location:12 → 255

MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
NM_001396045.1 → NP_001382974.1 S-methyl-5'-thioadenosine phosphorylase isoform 7

Status: REVIEWED

Source sequence(s)

AL359922, AL449423

Conserved Domains (1) summary

cd09010
Location:12 → 229

MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
NM_002451.4 → NP_002442.2 S-methyl-5'-thioadenosine phosphorylase isoform 1

See identical proteins and their annotated locations for NP_002442.2

Status: REVIEWED

Source sequence(s)

AK024734, AL359922, BC026106, BG576334, BM994282, BQ220538, BQ232183, CA440131, L40432, U22233

Consensus CDS

CCDS6509.1

UniProtKB/Swiss-Prot

I2G7M5, I2G7M6, I2G7M7, I2G7M8, I2G7M9, I2G7N0, Q13126, Q5T3P3, Q9H010

UniProtKB/TrEMBL

A0A384ME80, Q6FHP1, Q6FHT1

Related

ENSP00000494373.1, ENST00000644715.2

Conserved Domains (1) summary

cd09010
Location:12 → 255

MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)