HELLS Gene Summary [Human]
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 encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | HELLS |
| Official Name | helicase, lymphoid specific [Source:HGNC Symbol;Acc:HGNC:4861] |
| Ensembl ID | ENSG00000119969 |
| Bio databases IDs | |
| Aliases | helicase, lymphoid specific, SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6, proliferation-associated SNF2-like protein |
| Synonyms | E130115I21RIK, helicase, lymphoid specific, Helis helicase, ICF4, LOC100911660, LOC361781, LSH, Lysh, Nbla10143, PASG, SALNR, SMARCA6, YFK8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HELLS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNF2-related domain
- helicase superfamily c-terminal domain
- central domain
- chromatin binding
- enzyme
- protein binding
- Helicase conserved C-terminal domain
- ParB N-terminal domain and sulfiredoxin protein-related families
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- Class II histone deacetylase complex subunits 2 and 3
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- rectum cancer
- squamous cell lung cancer
- non-small cell lung cancer
- pancreatic adenocarcinoma
- osteoporosis
- hypertension
- non-small cell lung carcinoma
- immunodeficiency-centromeric instability-facial anomalies syndrome type 4
- hypoplasia
- epithelial neoplasia
role in cell
- growth
- proliferation
- upregulation in
- expression in
- cell viability
- apoptosis
- number
- generation
- differentiation
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin fraction
- DNA replication foci
- centromeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HELLS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- urogenital system development
- lymphocyte proliferation
- kidney development
- centromeric heterochromatin assembly
- apoptotic process
- hypermethylation of CpG island
- negative regulation of intrinsic apoptotic signaling pathway
- methylation-dependent chromatin silencing
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome, centromeric region
- centromeric heterochromatin
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- helicase activity
- chromatin binding
- hydrolase activity