NT5C3A

Chr 7p14.3

5'-nucleotidase, cytosolic IIIA

Aliases:: UMPH1, PSN1, PN-I, UMPH, P5'N-1
MANE:: ENST00000610140.7

OMIM: 606224 ↗NCBI: 51251 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NT5C3A · Q9H0P0

v62025-08-01

Predicted Aligned Error matrix for NT5C3A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.8/ 100

Very high

336 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)7%
Low(50–70)8%
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)

Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
0.80
acute myeloid leukemia
0.37
Abnormality of the skeletal system
0.30
kidney disorder
0.28
placental abruption
0.25
connective tissue neoplasm
0.25
liver disorder
0.25
glaucoma
0.12
Respiratory insufficiency
0.09
early-onset non-syndromic cataract
0.07

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

Protein function (UniProt)

Cytosolic 5'-nucleotidase 3A

Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP) (PubMed:24603684). CMP seems to be the preferred substrate (PubMed:15968458)