DCLRE1C

Official Full Name

DNA cross-link repair 1C

Organism

Homo sapiens

Gene ID

64421

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. [provided by RefSeq, Jan 2014]

Synonyms

SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C

Cat.No.	Product Name	Price
CSC-DC004089	Panoply™ Human DCLRE1C Knockdown Stable Cell Line	Inquiry
CSC-SC004089	Panoply™ Human DCLRE1C Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD04643Z	Human DCLRE1C adenoviral particles	Inquiry
LV10392L	human DCLRE1C (NM_001033858) lentivirus particles	Inquiry
LV10393L	human DCLRE1C (NM_001033855) lentivirus particles	Inquiry
LV10394L	human DCLRE1C (NM_022487) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHG223989	shRNA set against Human DCLRE1C(NM_001033855.1)	Inquiry
SHG224007	shRNA set against Mouse Dclre1c(NM_146114.3)	Inquiry
SHG224035	shRNA set against Rat Dclre1c(NM_147145.2)	Inquiry
SHG224053	shRNA set against Human DCLRE1C(NM_001033857.1)	Inquiry
SHG224071	shRNA set against Mouse Dclre1c(NM_175683.4)	Inquiry
SHG224089	shRNA set against Human DCLRE1C(NM_022487.2)	Inquiry
SHH275229	shRNA set against Human DCLRE1C (NM_022487.2)	Inquiry
SHH275233	shRNA set against Mouse DCLRE1C (NM_146114.3)	Inquiry
SHH275237	shRNA set against Rat DCLRE1C (NM_147145.2)	Inquiry
SHW002176	shRNA set against Chicken DCLRE1C (NM_001031594)	Inquiry
SHW010033	shRNA set against Danio rerio DCLRE1C (NM_001045101)	Inquiry

Cat.No.	Product Name	Price
MiUTR3H-08107	DCLRE1C miRNA 3'UTR clone	Inquiry
MiUTR1M-03716	DCLRE1C miRNA 3'UTR clone	Inquiry
MiUTR1M-03715	DCLRE1C miRNA 3'UTR clone	Inquiry
MiUTR1H-02689	DCLRE1C miRNA 3'UTR clone	Inquiry
MiUTR1H-02688	DCLRE1C miRNA 3'UTR clone	Inquiry
CDFR014543	Rat Dclre1c cDNA Clone(NM_147145.2)	Inquiry
CDFL003468	Mouse Dclre1c cDNA Clone(NM_175683.4)	Inquiry
CDFL003467	Mouse Dclre1c cDNA Clone(NM_146114.3)	Inquiry
CDFH004841	Human DCLRE1C cDNA Clone(NM_001033858.1)	Inquiry
CDFH004840	Human DCLRE1C cDNA Clone(NM_001033857.1)	Inquiry
CDFH004839	Human DCLRE1C cDNA Clone(NM_001033855.1)	Inquiry
MiUTR3H-08106	DCLRE1C miRNA 3'UTR clone	Inquiry
CDCS406853	Human DCLRE1C ORF Clone (BC009185)	Inquiry
CDCR381630	Rat Dclre1c ORF Clone(NM_147145.2)	Inquiry
CDCR343228	Human DCLRE1C ORF Clone(NM_001033858.1)	Inquiry
CDCR307904	Human DCLRE1C ORF Clone(NM_022487.2)	Inquiry
CDCR273263	Mouse Dclre1c ORF Clone(NM_175683.4)	Inquiry
CDCR053950	Mouse Dclre1c ORF clone (NM_001110214.1)	Inquiry
CDCR053948	Mouse Dclre1c ORF clone (NM_146114.3)	Inquiry
CDCR053938	Human DCLRE1C ORF clone (NM_001033855.1)	Inquiry
CDCR053936	Human DCLRE1C ORF clone (NM_001033857.1)	Inquiry
CDCB188065	Rabbit DCLRE1C ORF clone (XM_008268319.1)	Inquiry
CDCB171508	Danio rerio DCLRE1C ORF Clone (NM_001045101)	Inquiry
CDCS406852	Human DCLRE1C ORF Clone (BC022254)	Inquiry
CDCB163651	Chicken DCLRE1C ORF Clone (NM_001031594)	Inquiry

Detailed Information

DNA cross-link repair 1C (DCLRE1C) gene is an essential player in the maintenance of genome stability. Mutation or deletion of this gene can lead to defects in DNA repair, which in turn can result in genome instability and the development of various diseases, including cancer.

DNA cross-linking agents are environmental pollutants, and endogenous DNA cross-links can also arise during normal cell metabolism. The presence of cross-links can lead to genome instability and cell death if not repaired promptly. Therefore, the DNA cross-link repair (DCLR) pathway has evolved to maintain genome stability. DCLRE1C is a crucial gene in this pathway that repairs DNA cross-links through the nucleotide excision repair (NER) pathway.

Structure And Function of DCLRE1C

The DCLRE1C gene is evolutionarily conserved across various species. The human DCLRE1C gene encodes a protein of 517 amino acids, with a predicted molecular weight of 56 kDa. The structure of DCLRE1C contains several conserved domains, including a nuclear localization signal (NLS), a BRCT domain, and a highly conserved C-terminal region. The NLS is responsible for the nuclear import of DCLRE1C, while the BRCT domain is involved in the recognition and repair of DNA cross-links. The C-terminal region contains a catalytic core that is essential for the repair activity.

Mechanism of Action

DCLRE1C is a homing endonuclease that repairs DNA cross-links by cleaving the cross-linked DNA at the site of the lesion. It recognizes a specific DNA sequence surrounding the cross-link and generates a double-strand break (DSB) at the site. Subsequently, the cell's DNA repair machinery, such as the NER pathway, is recruited to the site of the lesion, leading to the repair of the cross-link. DCLRE1C also interacts with other proteins, such as XPA and RAD51, to facilitate the repair process.

Roles of DCLRE1C in Disease

Maintaining genome stability is crucial for cell survival and development. Defects in the DCLRE1C gene can lead to impairment in DNA cross-link repair, resulting in chromosomal aberrations, mutation, and genome instability. Genome instability is a hallmark of various diseases, including cancer, birth defects, and premature aging. Thus, DCLRE1C plays a vital role in maintaining genome stability and preventing the development of several diseases.

References:

Wu, Zeguang et al. "NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV." Microorganisms vol. 7,11 546. 10 Nov. 2019, doi:10.3390/microorganisms7110546
Cowan, Morton J et al. "Lentiviral Gene Therapy for Artemis-Deficient SCID." The New England journal of medicine vol. 387,25 (2022): 2344-2355. doi:10.1056/NEJMoa2206575

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