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Dclre1c Gene Detail
Summary
  • Symbol
    Dclre1c
  • Name
    DNA cross-link repair 1C
  • Synonyms
    9930121L06Rik, Art, Artemis
  • Feature Type
    protein coding gene
  • IDs
    MGI:2441769
    NCBI Gene: 227525
  • Gene Overview
    MyGene.info: DCLRE1C
Location & Maps
more
  • Genetic Map
    Chromosome 2, 1.93 cM
  • Mapping Data
    2 experiments
Homology
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  • Human Ortholog
    DCLRE1C, DNA cross-link repair 1C
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DCLRE1C, DNA cross-link repair 1C
    Orthology source: HomoloGene, HGNC
  • Synonyms
    A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
  • Links
    NCBI Gene ID: 64421
    neXtProt AC: NX_Q96SD1
    UniProt: Q96SD1

  • Chr Location
    10p13; chr10:14897853-14954432 (-)  GRCh38.p7

Human Diseases
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  • Diseases
    1 with Dclre1c mouse models; 2 with human DCLRE1C associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 9 alleles in 10 genetic backgrounds
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    281 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 14
    cDNA 14

    Microarray probesets 2
Other
Accession IDs
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MGI:2139032
References
more
  • Summaries
    All 59
    Diseases 2
    Gene Ontology 7
    Phenotypes 30
  • Earliest
    J:181755 Rigaut G, et al., A generic protein purification method for protein complex characterization and proteome exploration. Nat Biotechnol. 1999 Oct;17(10):1030-2
  • Latest
    J:215245 Makharashvili N, et al., Catalytic and noncatalytic roles of the CtIP endonuclease in double-strand break end resection. Mol Cell. 2014 Jun 19;54(6):1022-33

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
10/10/2017
MGI 6.10
The Jackson Laboratory