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    Dclre1c DNA cross-link repair 1C [ Mus musculus (house mouse) ]

    Gene ID: 227525, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dclre1cprovided by MGI
    Official Full Name
    DNA cross-link repair 1Cprovided by MGI
    Primary source
    MGI:MGI:2441769
    See related
    Ensembl:ENSMUSG00000026648 AllianceGenome:MGI:2441769
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Art; Snm1l; 9930121L06Rik
    Summary
    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]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 1.7), CNS E14 (RPKM 1.7) and 26 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Dclre1c in Genome Data Viewer
    Location:
    2 A1; 2 1.93 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (3425112..3475248)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (3424061..3474211)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39750 Neighboring gene STARR-positive B cell enhancer ABC_E5880 Neighboring gene meiosis expressed gene 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:3341062-3341360 Neighboring gene STARR-seq mESC enhancer starr_03514 Neighboring gene suppressor of variegation 3-9 2 Neighboring gene STARR-seq mESC enhancer starr_03515 Neighboring gene predicted gene, 54099 Neighboring gene heat shock protein 14 Neighboring gene STARR-positive B cell enhancer ABC_E272 Neighboring gene Myb/SANT DNA binding domain containing 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (4) 
    • Endonuclease-mediated (2) 
    • Spontaneous (1)  1 citation
    • Targeted (7)  1 citation

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • MGC123409

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 5'-3' DNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 5'-3' exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables single-stranded DNA endodeoxyribonuclease activity ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of nonhomologous end joining complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of nonhomologous end joining complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    protein artemis
    Names
    DNA cross-link repair 1A, PSO2 homolog
    DNA cross-link repair 1C protein
    DNA cross-link repair 1C, PSO2 homolog
    SNM1-like protein
    NP_001103684.1
    NP_001289603.1
    NP_001289613.1
    NP_001349832.1
    NP_001349833.1
    NP_666226.2
    NP_783614.1
    XP_006497515.2
    XP_006497516.4
    XP_006497517.4
    XP_006497518.1
    XP_006497519.1
    XP_006497521.1
    XP_006497522.1
    XP_006497523.1
    XP_006497525.2
    XP_011237273.2
    XP_011237274.1
    XP_030105389.1
    XP_030105407.1
    XP_030105410.1
    XP_036016507.1
    XP_036016516.1
    XP_036016522.1
    XP_036016526.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001110214.1NP_001103684.1  protein artemis isoform 3

      See identical proteins and their annotated locations for NP_001103684.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK052369, AL732620, BC030680, BC108935, BY729142
      Consensus CDS
      CCDS50486.1
      UniProtKB/TrEMBL
      Q32MX8
      Related
      ENSMUSP00000098031.4, ENSMUST00000100463.10
      Conserved Domains (2) summary
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    2. NM_001302674.1NP_001289603.1  protein artemis isoform 4

      See identical proteins and their annotated locations for NP_001289603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs at both the 5' and 3' ends, compared to variant 1. These differences cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AK052369, AL732620, BC030680, BY729142
      Consensus CDS
      CCDS79728.1
      UniProtKB/Swiss-Prot
      Q8K4J0
      Related
      ENSMUSP00000110718.2, ENSMUST00000115066.8
      Conserved Domains (2) summary
      pfam07522
      Location:109213
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:2541
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    3. NM_001302684.1NP_001289613.1  protein artemis isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1.
      Source sequence(s)
      AA254140, AA940383, AK052369, AK052490, AL732620, BC108935, BE850534, BX516565, BY729142
      UniProtKB/TrEMBL
      Q3TLT6
      Conserved Domains (2) summary
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    4. NM_001362903.1NP_001349832.1  protein artemis isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL732620
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:556
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    5. NM_001362904.1NP_001349833.1  protein artemis isoform 7

      Status: REVIEWED

      Source sequence(s)
      AK038788, AL732620
      Related
      ENSMUST00000131433.2
      Conserved Domains (2) summary
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
      pfam07522
      Location:239261
      DRMBL; DNA repair metallo-beta-lactamase
    6. NM_146114.3NP_666226.2  protein artemis isoform 1

      See identical proteins and their annotated locations for NP_666226.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA254140, AA940383, AK052490, AL732620, BE850534, BX516565, BY729142
      Consensus CDS
      CCDS15650.1
      UniProtKB/Swiss-Prot
      A2AJG6, A2AJG7, A2AJG8, Q8BG72, Q8BTT1, Q8K4J0
      UniProtKB/TrEMBL
      Q3TLT6
      Related
      ENSMUSP00000100053.4, ENSMUST00000102988.10
      Conserved Domains (2) summary
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    7. NM_175683.4NP_783614.1  protein artemis isoform 2

      See identical proteins and their annotated locations for NP_783614.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK052369, AL732620, BC030680, BY729142
      Consensus CDS
      CCDS15649.1
      UniProtKB/TrEMBL
      Q3TLT6
      Related
      ENSMUSP00000054300.6, ENSMUST00000061852.12
      Conserved Domains (2) summary
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      3425112..3475248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497462.4XP_006497525.2  protein artemis isoform X10

      Conserved Domains (2) summary
      cd16297
      Location:41211
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
      pfam07522
      Location:279383
      DRMBL; DNA repair metallo-beta-lactamase
    2. XM_011238971.4XP_011237273.2  protein artemis isoform X8

      Conserved Domains (2) summary
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
    3. XM_006497453.5XP_006497516.4  protein artemis isoform X3

      UniProtKB/TrEMBL
      Q3TLT6
      Conserved Domains (2) summary
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
    4. XM_006497454.5XP_006497517.4  protein artemis isoform X4

      UniProtKB/TrEMBL
      Q3TLT6
      Conserved Domains (2) summary
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
    5. XM_006497452.4XP_006497515.2  protein artemis isoform X1

      UniProtKB/TrEMBL
      Q3TLT6
      Conserved Domains (2) summary
      pfam07522
      Location:224328
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:1156
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    6. XM_036160614.1XP_036016507.1  protein artemis isoform X2

      Conserved Domains (2) summary
      pfam07522
      Location:172276
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:1104
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    7. XM_006497456.3XP_006497519.1  protein artemis isoform X6

      See identical proteins and their annotated locations for XP_006497519.1

      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:556
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    8. XM_006497460.1XP_006497523.1  protein artemis isoform X9

      See identical proteins and their annotated locations for XP_006497523.1

      Conserved Domains (2) summary
      pfam07522
      Location:93197
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:125
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    9. XM_006497455.1XP_006497518.1  protein artemis isoform X5

      Conserved Domains (2) summary
      pfam07522
      Location:159263
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:391
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    10. XM_006497459.1XP_006497522.1  protein artemis isoform X7

      See identical proteins and their annotated locations for XP_006497522.1

      Conserved Domains (2) summary
      pfam07522
      Location:109213
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:2541
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    11. XM_030249550.1XP_030105410.1  protein artemis isoform X14

      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:556
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    12. XM_030249529.2XP_030105389.1  protein artemis isoform X11

      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:556
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    13. XM_036160633.1XP_036016526.1  protein artemis isoform X14

      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:556
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    14. XM_011238972.2XP_011237274.1  protein artemis isoform X12

      See identical proteins and their annotated locations for XP_011237274.1

      UniProtKB/Swiss-Prot
      Q8K4J0
      Conserved Domains (2) summary
      pfam07522
      Location:109213
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:2541
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    15. XM_006497458.1XP_006497521.1  protein artemis isoform X7

      See identical proteins and their annotated locations for XP_006497521.1

      Conserved Domains (2) summary
      pfam07522
      Location:109213
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:2541
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    16. XM_030249547.1XP_030105407.1  protein artemis isoform X13

    17. XM_036160629.1XP_036016522.1  protein artemis isoform X9

      Conserved Domains (2) summary
      pfam07522
      Location:93197
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:125
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    18. XM_036160623.1XP_036016516.1  protein artemis isoform X6

      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:556
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

    RNA

    1. XR_004939536.1 RNA Sequence