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Dclre1c
Gene Detail
 Symbol
Name
ID
Dclre1c
DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae)
MGI:2441769
Synonyms 9930121L06Rik, Art, Artemis
Feature Type protein coding gene
Genetic Map
Chromosome 2
1.93 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:3424131-3464130 bp, + strand
From VEGA annotation of GRCm38

  40000 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32547  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Dclre1c

Human
homologs
Human Homolog DCLRE1C, DNA cross-link repair 1C
NCBI Gene ID 64421
neXtProt AC  NX_Q96SD1
Human Synonyms  A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
Human Chr (Location)  10p13; chr10:14904611-14954432 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human DCLRE1C
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(1) Spontaneous(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial.
 
Human Diseases Modeled Using Mouse Dclre1c (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Dclre1c interacts with 444 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process B cell differentiation, cellular response to DNA damage stimulus, ...
Component nucleus
Function 5'-3' exonuclease activity, endonuclease activity, ...
External Resources: FuncBase
Expression
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(10) cDNA(10)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000010775 (Evidence)
Ensembl Gene ModelENSMUSG00000026648 (Evidence)
Entrez Gene227525 (Evidence)
EC3.1.-.-
Consensus CDS ProjectCCDS15649.1, CCDS15650.1, CCDS50486.1
International Mouse Knockout Project StatusDclre1c
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010775 VEGA Gene Model | MGI Sequence Detail 40000 C57BL/6J ±  kb
transcript OTTMUST00000025191 VEGA | MGI Sequence Detail 2469 Not Applicable 
polypeptide OTTMUSP00000011552 VEGA | MGI Sequence Detail 705 Not Applicable 

For the selected sequences
All sequences(79) RefSeq(34) UniProt(4)
Polymorphisms SNPs within 2kb(248 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001279 Beta-lactamase-like
InterPro IPR011084 DNA repair metallo-beta-lactamase
Protein Ontology PR:000006315 protein artemis
References (Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:207533 Barthels C, et al., Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency. PLoS One. 2013;8(9):e74838
All references(52)
Disease annotation references (2)
Other
accession IDs
MGI:2139032

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory