About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:3425168-3465167 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 1.93 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    983 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2441769
 protein coding gene Chr2:3425112-3475248 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025308
 protein coding gene Chr2:395070-446306 (+)
A/J MGP_AJ_G0025284
 protein coding gene Chr2:376061-417570 (+)
AKR/J MGP_AKRJ_G0025253
 protein coding gene Chr2:385399-426843 (+)
BALB/cJ MGP_BALBcJ_G0025280
 protein coding gene Chr2:367266-406921 (+)
C3H/HeJ MGP_C3HHeJ_G0025040
 protein coding gene Chr2:396146-438105 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025723
 protein coding gene Chr2:389310-433035 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023137
 protein coding gene Chr2:323712-362885 (+)
CAST/EiJ MGP_CASTEiJ_G0024504
 protein coding gene Chr2:396572-441567 (+)
CBA/J MGP_CBAJ_G0025020
 protein coding gene Chr2:415864-462013 (+)
DBA/2J MGP_DBA2J_G0025151
 protein coding gene Chr2:360954-400471 (+)
FVB/NJ MGP_FVBNJ_G0025113
 protein coding gene Chr2:370390-411052 (+)
LP/J MGP_LPJ_G0025238
 protein coding gene Chr2:397641-439071 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025146
 protein coding gene Chr2:395848-436405 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025781
 protein coding gene Chr2:384746-425776 (+)
PWK/PhJ MGP_PWKPhJ_G0024253
 protein coding gene Chr2:359745-400879 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024055
 protein coding gene Chr2:413561-455857 (+)
WSB/EiJ MGP_WSBEiJ_G0024574
 protein coding gene Chr2:392644-432684 (+)



Homology
more
  • Human Ortholog
    DCLRE1C, DNA cross-link repair 1C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DCLRE1C, DNA cross-link repair 1C
  • Synonyms
    A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
  • Links
    NCBI Gene ID: 64421
    neXtProt AC: NX_Q96SD1
    UniProt: Q96SD1

  • Chr Location
    10p13; chr10:14897359-14954432 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Dclre1c mouse models; 4 with human DCLRE1C associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 11 alleles in 12 genetic backgrounds
    71 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
less
  • All GO Annotations
    24
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026648 Ensembl Gene Model | MGI Sequence Detail 40000 C57BL/6J ±  kb
    transcript ENSMUST00000102988 Ensembl | MGI Sequence Detail 2469 Not Applicable  
    polypeptide ENSMUSP00000100053 Ensembl | MGI Sequence Detail 705 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2139032
    References
    more
    • Summaries
      All 105
      Diseases 3
      Gene Ontology 9
      Phenotypes 71
    • 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:331385 Yao W, et al., Keratinocyte-derived cytokine TSLP promotes growth and metastasis of melanoma by regulating the tumor-associated immune microenvironment. JCI Insight. 2022 Nov 8;7(21)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory