HELLS

Lymphoid-specific helicase (Lsh) is a member of the SNF2 helicase family of chromatin remodeling proteins that in humans is encoded by the HELLS gene.

HELLS
Identifiers
Aliases	HELLS, LSH, PASG, SMARCA6, Nbla10143, ICF4, helicase, lymphoid-specific, helicase, lymphoid specific
External IDs	OMIM: 603946 MGI: 106209 HomoloGene: 50037 GeneCards: HELLS
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q23.33 Start 94,501,434 bp[1] End 94,613,905 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 C3 Start 38,919,359 bp[2] End 38,959,495 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte ganglionic eminence thymus testicle tibia cancellous bone thymus cavity of mouth endometrium Top expressed in abdominal wall primitive streak secondary oocyte somite maxillary prominence dermis vas deferens otic placode spermatid hand More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding helicase activity hydrolase activity Cellular component pericentric heterochromatin chromosome, centromeric region nucleus Biological process lymphocyte proliferation cell cycle pericentric heterochromatin assembly maintenance of DNA methylation DNA methylation-dependent heterochromatin assembly regulation of transcription, DNA-templated transcription, DNA-templated cell division multicellular organism development metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3070 15201 Ensembl ENSG00000119969 ENSMUSG00000025001 UniProt Q9NRZ9 Q76H82 Q60848 RefSeq (mRNA) NM_018063 NM_001289067 NM_001289068 NM_001289069 NM_001289070 NM_001289071 NM_001289072 NM_001289073 NM_001289074 NM_001289075 NM_008234 RefSeq (protein) NP_001275996 NP_001275997 NP_001275998 NP_001275999 NP_001276000 NP_001276001 NP_001276002 NP_001276003 NP_001276004 NP_060533 NP_001276000.1 NP_001276000.1 NP_032260 Location (UCSC) Chr 10: 94.5 – 94.61 Mb Chr 19: 38.92 – 38.96 Mb PubMed search [3] [4]
Wikidata
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The HELLS gene has proved to play critical roles in DNA methylation, chromatin packaging, control of Hox genes, stem cell proliferation, and developing lymphoid tissue.

In a developing embryo, epigenetic programming is controlled through the mechanisms of DNA methylation and chromatin organization. These processes are the master regulators that determine which genes are turned on or off throughout development. Lsh, a protein encoded by the HELLS gene is a major regulator of methylation patterns and thus crucial to normal fetal development.

Mutations and knockouts of the HELLS gene severely disrupts the process of fetal programming. In mice, knockout of HELLS gene resulted in death of embryos at birth and caused embryonic growth retardation. In humans, hypomethylation caused by a mutation in the HELLS gene is linked to Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4). This is a rare disease that causes immunodeficiency, facial anomalies, growth retardation, failure to thrive, and psychomotor retardation. The adverse effects due to the absence and mutation of the HELLS gene is a result of the extensive loss of genomic wide methylation and the abnormal expression of repeat sequences. The disruption in methylation patterns can cause the silencing of genes or the over-expression of genes, leading to abnormal and in some cases fatal developmental consequences.

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.[5]