AK1

Chr 9q34.11

adenylate kinase 1

Aliases:: ADK, Adk1
MANE:: ENST00000644144.2

OMIM: 103000 ↗NCBI: 203 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AK1 · P00568

v62025-08-01

Predicted Aligned Error matrix for AK1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.9/ 100

Very high

194 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)5%
Low(50–70)2%
Very low(< 50)0%

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
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hemolytic anemia due to adenylate kinase deficiency
0.76
myeloid leukemia
0.19
acute myeloid leukemia
0.06
nasopharyngeal carcinoma
0.05
lung adenocarcinoma
0.05
alcohol drinking
0.04
ocular hypotension
0.04
cancer
0.02
colorectal carcinoma
0.02
chronic myelogenous leukemia, BCR-ABL1 positive
0.02

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

Protein function (UniProt)

Adenylate kinase isoenzyme 1

Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism (By similarity) (PubMed:21080915, PubMed:23416111, PubMed:2542324). Also catalyzes at a very low rate the synthesis of thiamine triphosphate (ThTP) from thiamine diphosphate (ThDP) and ADP (By similarity)