Rabbit anti-Human DCLRE1C Polyclonal Antibody

Uniprot Id

Q96SD1

Target Species

Human

Target Name

DCLRE1C

Target Full Name

Protein artemis

Target Function

Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination. Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. Also required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ.

Target Involvement

Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID); Severe combined immunodeficiency Athabaskan type (SCIDA); Omenn syndrome (OS)

Target Subcellular Location

Nucleus.

Target Protein Families

DNA repair metallo-beta-lactamase (DRMBL) family

Target Tissue Specificity

Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination.

Target Synonyms

A SCID; A SCID protein; Artemis protein; ASCID; DCLRE1C; DCLRE1C DNA cross link repair 1C ; DCLRE1C protein; DCLREC1C; DCR1C_HUMAN; DNA cross link repair 1C ; DNA cross link repair 1C protein; DNA cross-link repair 1C protein; FLJ11360; FLJ36438; hSNM1C; OTTHUMP00000045150; Protein A-SCID; Protein ARTEMIS; PSO2 homolog; RS SCID ; SCIDA; Severe combined immunodeficiency type a; SNM1 homolog C; SNM1 like protein; SNM1-like protein; SNM1C

Target Background

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants.