InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HELLS

Summary

InnateDB Protein

IDBP-242339.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HELLS

Protein Name

helicase, lymphoid-specific

Synonyms

LSH; PASG; SMARCA6;

Species

Homo sapiens

Ensembl Protein

ENSP00000377601

InnateDB Gene

IDBG-83141 (HELLS)

Protein Structure

UniProt Annotation

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). {ECO:0000250UniProtKB:Q60848}.

Subcellular Localization

Nucleus {ECO:0000250}. Note=Closely associated with pericentric heterochromatin. {ECO:0000250}.

Disease Associations

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. {ECO:0000269PubMed:10910076}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	23 [view]
Protein-Protein	22 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0004386	helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding

Biological Process

GO:0001655	urogenital system development
GO:0006306	DNA methylation
GO:0006342	chromatin silencing
GO:0006346	methylation-dependent chromatin silencing
GO:0006351	transcription, DNA-templated
GO:0007067	mitotic nuclear division
GO:0007275	multicellular organismal development
GO:0010216	maintenance of DNA methylation
GO:0031508	centromeric heterochromatin assembly
GO:0043066	negative regulation of apoptotic process
GO:0046651	lymphocyte proliferation
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway

Cellular Component

GO:0000775	chromosome, centromeric region
GO:0005634	nucleus
GO:0005721	centromeric heterochromatin

Protein Structure and Domains

PDB ID

InterPro

IPR000330 SNF2-related
IPR001650 Helicase, C-terminal
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00176
PF00271

PRINTS

PIRSF

SMART

SM00490
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NRZ9