FASTKD5

Chr 20p13

FAST kinase domains 5

Aliases:: FLJ13149
MANE:: ENST00000380266.4

OMIM: 614272 ↗NCBI: 60493 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FASTKD5 · Q7L8L6

v62025-08-01

Predicted Aligned Error matrix for FASTKD5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

764 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)6%
Low(50–70)4%
Very low(< 50)23%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Leigh syndrome
0.60
neurodegenerative disease
0.54
Arrhythmogenic right ventricular dysplasia
0.05
Wolff-Parkinson-White syndrome
0.05
familial sick sinus syndrome
0.05
familial atrial fibrillation
0.04
polycystic ovary syndrome
0.04
arrhythmogenic right ventricular dysplasia 5
0.04
Tako-tsubo cardiomyopathy
0.04
sinoatrial node dysfunction and deafness
0.04

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

Protein function (UniProt)

Non-canonical pre-mRNAs endonuclease FASTKD5, mitochondrial

Required for the processing of non-canonical mitochondrial pre-mRNAs within the primary mitochondrial polycistronic transcript, i.e. pre-mRNA sequences that are not flanked by tRNA (tRNA punctuation) (PubMed:25683715, PubMed:40499538, PubMed:40637235). Has endoribonuclease activity and processes MT-CO1, MT-CO3 and MT-CYB pre-mRNAs, generating products with 3'/2'-phosphate or a 2',3'-cyclic phosphodiester at the 3'-end (PubMed:40637235)