InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NHEJ1

Summary

InnateDB Protein

IDBP-81286.6

Last Modified

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

Gene Symbol

NHEJ1

Protein Name

nonhomologous end-joining factor 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000349313

InnateDB Gene

IDBG-81282 (NHEJ1)

Protein Structure

UniProt Annotation

Function

DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary. {ECO:0000269PubMed:16439204, ECO:0000269PubMed:16439205, ECO:0000269PubMed:17470781}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:16439204, ECO:0000269PubMed:16439205}.

Disease Associations

Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]: SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations. {ECO:0000269PubMed:16439204, ECO:0000269PubMed:16439205}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22). {ECO:0000269PubMed:12604777}.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:16439204}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding

Biological Process

GO:0006281	DNA repair
GO:0006302	double-strand break repair
GO:0006303	double-strand break repair via nonhomologous end joining
GO:0006310	DNA recombination
GO:0007417	central nervous system development
GO:0010212	response to ionizing radiation
GO:0030183	B cell differentiation
GO:0030217	T cell differentiation
GO:0051351	positive regulation of ligase activity