Dclre1c Gene Summary [Mouse]

This gene encodes a member of the SNM1 family of nucleases and is involved in V(D)J recombination and DNA repair. This 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. Homozygous knockout mice for this gene exhibit severe combined immunodeficiency with sensitivity to ionizing radiation. Mutations in this gene in humans can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]

Details

Type
Protein Coding
Official Symbol
Dclre1c
Official Name
DNA cross-link repair 1C [Source:MGI Symbol;Acc:MGI:2441769]
Ensembl ID
ENSMUSG00000026648
Bio databases IDs NCBI: 227525 Ensembl: ENSMUSG00000026648
Aliases DNA cross-link repair 1C
Synonyms 9930121L06Rik, Art, Artemis, A-SCID, DCLREC1C, DNA cross-link repair 1C, RS-SCID, SCIDA, SNM1C, SNM1L
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Dclre1c often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Beta-lactamase superfamily domain
  • endonuclease
  • 5'-3' exonuclease
  • DNA repair metallo-beta-lactamase
  • enzyme
  • protein binding
  • metallo-hydrolase-like_MBL-fold
  • single-stranded DNA specific endodeoxyribonuclease

Pathways

Biological processes and signaling networks where the Dclre1c gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Omenn syndrome
  • Athabascan severe combined immunodeficiency
  • cancer
  • severe combined immunodeficiency
  • Susac syndrome
  • postmenopausal osteoporosis
  • chromosomal instability
  • partial severe combined immunodeficiency
  • B-cell non-Hodgkin disease
  • Aicardi-Goutieres syndrome 1
regulated by
  • lipopolysaccharide
  • imatinib
  • ATM
  • dasatinib
  • fingolimod
  • SIRT2
  • staurosporine
  • MRC5-SV cells
  • HDAC1
  • HDAC2
regulates
role in cell
  • proliferation
  • cell viability
  • growth
  • formation in
  • survival
  • differentiation
  • molecular cleavage in
  • formation
  • number
  • sensitivity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • Golgi Apparatus
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Dclre1c gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • V(D)J recombination
  • B cell differentiation
  • adaptive immune response
  • telomere maintenance
  • double-strand break repair via nonhomologous end joining
  • response to ionizing radiation

Cellular Component

Where in the cell the gene product is active
  • nonhomologous end joining complex
  • Golgi apparatus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • 5'-3' exonuclease activity
  • protein binding
  • endonuclease activity
  • 5'-3' exodeoxyribonuclease activity
  • damaged DNA binding
  • single-stranded DNA specific endodeoxyribonuclease activity

Gene-Specific Assays for Results You Can Trust

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