Human Gene HELLS (uc001kjt.3) Description and Page Index
Description: Homo sapiens helicase, lymphoid-specific (HELLS), mRNA. RefSeq Summary (NM_018063): 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]. Transcript (Including UTRs) Position: hg19 chr10:96,305,574-96,361,856 Size: 56,283 Total Exon Count: 22 Strand: + Coding Region Position: hg19 chr10:96,305,679-96,361,379 Size: 55,701 Coding Exon Count: 22
ID:HELLS_HUMAN DESCRIPTION: RecName: Full=Lymphoid-specific helicase; EC=3.6.4.-; AltName: Full=Proliferation-associated SNF2-like protein; AltName: Full=SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6; FUNCTION: Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Closely associated with pericentric heterochromatin (By similarity). TISSUE SPECIFICITY: Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias. INDUCTION: By concanavalin-A in peripheral blood leukocytes. SIMILARITY: Belongs to the SNF2/RAD54 helicase family. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain. SEQUENCE CAUTION: Sequence=AAG01987.1; Type=Erroneous initiation; Sequence=AAH29381.1; Type=Erroneous initiation; Sequence=AAH30963.1; Type=Erroneous initiation; Sequence=AAH31004.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Acenocoumarol Martina Teichert et al. Human molecular genetics 2009, A genome-wide association study of acenocoumarol maintenance dosage., Human molecular genetics.
Ticlopidine Alan R Shuldiner et al. JAMA : the journal of the American Medical Association 2009, Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy., JAMA : the journal of the American Medical Association.
CYP2C19*2 genotype was associated with diminished platelet response to clopidogrel treatment and poorer cardiovascular outcomes.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NRZ9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.