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 | |
| 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 |
| Orthologies |
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
phenotypes
- abnormal B cell differentiation
- abnormal T cell receptor V(D)J recombination
- abnormal T cell receptor beta chain V(D)J recombination
- abnormal cell physiology
- abnormal immunoglobulin heavy chain V(D)J recombination
- abnormal leukocyte physiology
- abnormal lymph node morphology
- abnormal mononuclear cell morphology
- abnormal spleen B cell follicle morphology
- absent B cells
- absent CD4-positive alpha beta T cells
- absent CD8-positive alpha-beta T cells
- absent T cells
- absent immature B cells
- absent thymus cortex
- arrested B cell differentiation
- arrested T cell differentiation
- chromosomal instability
- decreased B cell number
- decreased B cell proliferation
- decreased B-1 B cell number
- decreased CD4-positive alpha beta T cell number
- decreased CD8-positive alpha-beta T cell number
- decreased CD8-positive naive alpha-beta T cell number
- decreased DN1 thymic pro-T cell number
- decreased DN4 thymocyte number
- decreased IgM level
- decreased NK T cell number
- decreased T cell number
- decreased T cell proliferation
- decreased body size
- decreased body weight
- decreased double-positive T cell number
- decreased lymphocyte cell number
- decreased mature B cell number
- decreased pre-B cell number
- decreased response to antigen
- decreased single-positive T cell number
- decreased splenocyte number
- decreased systemic arterial systolic blood pressure
- decreased thymocyte number
- decreased thymus weight
- impaired humoral immune response
- increased NK cell number
- increased body weight
- increased cellular sensitivity to gamma-irradiation
- increased cellular sensitivity to ionizing radiation
- increased central memory CD4-positive alpha-beta T cell number
- increased central memory CD8 positive alpha-beta T cell number
- increased effector memory CD4-positive alpha-beta T cell number
- increased effector memory CD8-positive alpha-beta T cell number
- increased macrophage cell number
- increased neutrophil cell number
- increased pro-B cell number
- induced chromosome breakage
- small lymph nodes
- small spleen
- spleen hypoplasia
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