MTAP

Chr 9p21.3

methylthioadenosine phosphorylase

Aliases:: MSAP, c86fus
MANE:: ENST00000644715.2

OMIM: 156540 ↗NCBI: 4507 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MTAP · Q13126

v62025-08-01

Predicted Aligned Error matrix for MTAP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.7/ 100

Very high

283 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)11%
Low(50–70)3%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Sarcoma cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood solid tumours
Monogenic hearing loss
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

diaphyseal medullary stenosis-bone malignancy syndrome
0.69
Diaphyseal medullary stenosis - bone malignancy
0.62
melanoma
0.48
cutaneous melanoma
0.48
coronary artery disorder
0.44
lung adenocarcinoma
0.41
coronary atherosclerosis
0.40
non-small cell lung carcinoma
0.37
melanocytic nevus
0.35
skin cancer
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

S-methyl-5'-thioadenosine phosphorylase

Catalyzes the phosphorolytic cleavage of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose1-phosphate (PubMed:3091600, PubMed:8687427, PubMed:10404592). Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis (PubMed:3091600, PubMed:8687427, PubMed:10404592). Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine (PubMed:3091600, PubMed:8687427, PubMed:10404592). Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates (PubMed:10404592)