SMC5

Chr 9q21.12

structural maintenance of chromosomes 5

Aliases:: KIAA0594
MANE:: ENST00000361138.7

OMIM: 609386 ↗NCBI: 23137 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SMC5 · Q8IY18

v62025-08-01

Predicted Aligned Error matrix for SMC5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.4/ 100

Confident

1,101 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)70%
Low(50–70)7%
Very low(< 50)7%

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Atelis syndrome 2
0.69
Abnormality of the skeletal system
0.40
hereditary disease
0.19
neurodegenerative disease
0.19
carotid artery disorder
0.10
cancer
0.09
placental abruption
0.09
colorectal carcinoma
0.07
liver disorder
0.07
infection
0.06

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

Protein function (UniProt)

Structural maintenance of chromosomes protein 5

Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Required for sister chromatid cohesion during prometaphase and mitotic progression; the function seems to be independent of SMC6. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541)