HELLS

Chr 10q23.33

helicase, lymphoid specific

Aliases:: PASG, SMARCA6, LSH, Nbla10143, SALNR
MANE:: ENST00000348459.10

OMIM: 603946 ↗NCBI: 3070 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HELLS · Q9NRZ9

v62025-08-01

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

Mean pLDDT

68.4/ 100

Low

838 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)34%
Low(50–70)23%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

ICF syndrome
0.70
immunodeficiency-centromeric instability-facial anomalies syndrome
0.46
neurodegenerative disease
0.32
hereditary disease
0.19
hepatocellular carcinoma
0.10
cancer
0.10
lung carcinoma
0.10
lung cancer
0.09
neoplasm
0.09
familial isolated dilated cardiomyopathy
0.09

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

Protein function (UniProt)

Lymphoid-specific helicase

ATP-dependent chromatin remodeler that regulates chromatin accessibility, DNA methylation, and histone modifications. It facilitates de novo DNA methylation at repetitive sequences and promotes transcriptional silencing via recruitment of DNA methyltransferases (DNMTs) and histone deacetylases (HDACs), contributing to heterochromatin formation and repression of transposable elements (PubMed:30307408). Also involved in DNA repair by recruiting DNA damage response mediators to double-strand breaks in heterochromatin, promoting homologous recombination via RBBP8/CtIP-dependent end resection (PubMed:22946062, PubMed:31802118). During meiosis, it is recruited by PRDM9 to recombination hotspots, aiding chromatin opening (PubMed:32001511). Through these diverse roles, is crucial for processes such as development, differentiation, and genomic stability (PubMed:22946062, PubMed:31802118). Involved in regulation of the expansion or survival of lymphoid cells (By similarity)