• Gene id: 3070

Gene Summary

• Gene Symbol: HELLS   Gene   UCSC   Ensembl
• Aliases: ICF4, LSH, Nbla10143, PASG, SMARCA6
• Gene name: helicase, lymphoid specific
• Alternate names: lymphoid-specific helicase, SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6, proliferation-associated SNF2-like protein,
• Gene location: 10q23.33 (94545766: 94613904)     Exons: 26     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 154045

Protein Summary

• Protein general information: Q9NRZ9  
  • Name: Lymphoid specific helicase (EC 3.6.4. ) (Proliferation associated SNF2 like protein) (SWI/SNF2 related matrix associated actin dependent regulator of chromatin subfamily A member 6)
  • Length: 838  
  • Mass: 97074
  • 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
• Sequence:

  MPAERPAGSGGSEAPAMVEQLDTAVITPAMLEEEEQLEAAGLERERKMLEKARMSWDRESTEIRYRRLQHLLEKS
  NIYSKFLLTKMEQQQLEEQKKKEKLERKKESLKVKKGKNSIDASEEKPVMRKKRGREDESYNISEVMSKEEILSV
  AKKNKKENEDENSSSTNLCVEDLQKNKDSNSIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRW
  YQVEGMEWLRMLWENGINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTM
  LYHGTQEERQKLVRNIYKRKGTLQIHPVVITSFEIAMRDRNALQHCYWKYLIVDEGHRIKNMKCRLIRELKRFNA
  DNKLLLTGTPLQNNLSELWSLLNFLLPDVFDDLKSFESWFDITSLSETAEDIIAKEREQNVLHMLHQILTPFLLR
  RLKSDVALEVPPKREVVVYAPLSKKQEIFYTAIVNRTIANMFGSSEKETIELSPTGRPKRRTRKSINYSKIDDFP
  NELEKLISQIQPEVDRERAVVEVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDEELVTNSGK
  FLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCHLRDFNFSRLDGSMSYSEREKNMHSFNTDPEVFIFLVSTR
  AGGLGINLTAADTVIIYDSDWNPQSDLQAQDRCHRIGQTKPVVVYRLVTANTIDQKIVERAAAKRKLEKLIIHKN
  HFKGGQSGLNLSKNFLDPKELMELLKSRDYEREIKGSREKVISDKDLELLLDRSDLIDQMNASGPIKEKMGIFKI
  LENSEDSSPECLF

• Structural information:
  • Protein Domains: (235..40-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (603..76-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR014001  IPR001650  IPR027417  IPR038718  IPR000330  
  • Prosite: PS51192 PS51194
  • STRING: ENSP00000377601
• Other Databases: GeneCards:  HELLS  Malacards:  HELLS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031508	pericentric heterochromatin assembly	IBA	biological process
GO:0010216	maintenance of DNA methylation	IBA	biological process
GO:0006306	DNA methylation	IBA	biological process
GO:0005721	pericentric heterochromatin	IBA	cellular component
GO:0003682	chromatin binding	IBA	molecular function
GO:0046651	lymphocyte proliferation	IBA	biological process
GO:0006346	DNA methylation-dependent heterochromatin assembly	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	ISS	biological process
GO:0000775	chromosome, centromeric region	ISS	cellular component
GO:0031508	pericentric heterochromatin assembly	ISS	biological process
GO:0010216	maintenance of DNA methylation	ISS	biological process
GO:0046651	lymphocyte proliferation	ISS	biological process
GO:0006346	DNA methylation-dependent heterochromatin assembly	ISS	biological process
GO:0005721	pericentric heterochromatin	ISS	cellular component

Diseases

Associated diseases	References
Immunodeficiency-centromeric instability-facial anomalies syndrome	KEGG:H02308
Immunodeficiency-centromeric instability-facial anomalies syndrome	KEGG:H02308
Malignant glioma	PMID:28042322
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq