SUPV3L1

Chr 10q22.1

Suv3 like RNA helicase

Aliases:: SUV3
MANE:: ENST00000359655.9

OMIM: 605122 ↗NCBI: 6832 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SUPV3L1 · Q8IYB8

v62025-08-01

Predicted Aligned Error matrix for SUPV3L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.0/ 100

Confident

786 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)13%
Low(50–70)3%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.54
response to vaccine
0.25
neoplasm
0.03
hepatocellular carcinoma
0.02
chronic obstructive pulmonary disease
0.01
neurodevelopmental disorder
0.01
gastric cancer
0.01
Ataxia
0.01
cerebellar ataxia
0.01
optic atrophy
0.01

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

Protein function (UniProt)

ATP-dependent RNA helicase SUPV3L1, mitochondrial

Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA