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

Gene ID: 227525, updated on 27-Nov-2024

Summary

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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
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Impact of a hypomorphic Artemis disease allele on lymphocyte development, DNA end processing, and genome stability. Huang Y, et al. J Exp Med, 2009 Apr 13. PMID 19349461, Free PMC Article
  2. A non-leaky Artemis-deficient mouse that accurately models the human severe combined immune deficiency phenotype, including resistance to hematopoietic stem cell transplantation. Xiao Z, et al. Biol Blood Marrow Transplant, 2009 Jan. PMID 19135937, Free PMC Article
  3. Exo1 independent DNA mismatch repair involves multiple compensatory nucleases. Desai A, et al. DNA Repair (Amst), 2014 Sep. PMID 25037770, Free PMC Article
  4. Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. Rivière J, et al. Gene Ther, 2014 May. PMID 24622732
  5. Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation. Li L, et al. J Immunol, 2005 Feb 15. PMID 15699179

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ATM phosphorylates DNA-PKcs to recruit Artemis and promote end-processing.
    Title: Differential phosphorylation of DNA-PKcs regulates the interplay between end-processing and end-ligation during nonhomologous end-joining.
  2. we present T(-)B(-)NK(+) severe combined immunodeficiency (SCID) phenotype after spontaneously occurring modification of Artemis gene in mice.
    Title: Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency.
  3. Loss of Artemis leads to reduced immunoglobulin class switch recombination.
    Title: Reduced immunoglobulin class switch recombination in the absence of Artemis.
  4. These data suggest that Artemis might be the nuclease responsible for nucleotide loss from signal ends during the repair process.
    Title: Distinct effects of DNA-PKcs and Artemis inactivation on signal joint formation in vivo.
  5. both DNA-PKcs and, unexpectedly, Artemis are necessary for joining a subset of activation-induced cytidine deaminase (AID)-dependent DNA double-strand breaks
    Title: DNA-PKcs and Artemis function in the end-joining phase of immunoglobulin heavy chain class switch recombination.
  6. DNA-PKcs and Artemis open AAV inverted terminal repeat (ITR) hairpin loops in a tissue-dependent manner.
    Title: The role of DNA-PKcs and artemis in opening viral DNA hairpin termini in various tissues in mice.
  7. Since Art deficient mice represent a model for radiation-sensitive severe combined immunodeficiency, we suggest that these patients may be at risk for both lymphoid and non-lymphoid cancers.
    Title: The nonhomologous end joining factor Artemis suppresses multi-tissue tumor formation and prevents loss of heterozygosity.
  8. DNA-PK has Artemis-independent functions in class switch recombination and normal development
    Title: Artemis-independent functions of DNA-dependent protein kinase in Ig heavy chain class switch recombination and development.
  9. V(D)J and DNA repair defects seen in this Artemis-deficient mouse model are direct evidence that defective Artemis is the pathologic mechanism for the immunodeficiency phenotype of SCID in Athabascan-speaking Native Americans.
    Title: Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation.
  10. Artemis/p53-deficient mouse tumors lacked der(12)t(12;15) translocations and c-myc amplification.
    Title: Artemis and p53 cooperate to suppress oncogenic N-myc amplification in progenitor B cells.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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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

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General gene information

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Markers

Homology

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
  
Process Evidence Code Pubs
acts_upstream_of_or_within B cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within DNA recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within V(D)J recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within chromosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within double-strand break repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in double-strand break repair via nonhomologous end joining IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in interstrand cross-link repair IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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

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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)

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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_001110214.1 → NP_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:239 → 343
    DRMBL; DNA repair metallo-beta-lactamase
    cd16297
    Location:1 → 171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain

  2. NM_001302674.1 → NP_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:109 → 213
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:25 → 41
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  3. NM_001302684.1 → NP_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:239 → 343
    DRMBL; DNA repair metallo-beta-lactamase
    cd16297
    Location:1 → 171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain

  4. NM_001362903.1 → NP_001349832.1  protein artemis isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL732620
    Conserved Domains (2) summary
    pfam07522
    Location:124 → 228
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:5 → 56
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  5. NM_001362904.1 → NP_001349833.1  protein artemis isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK038788, AL732620
    Related
    ENSMUST00000131433.2
    Conserved Domains (2) summary
    cd16297
    Location:1 → 171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:239 → 261
    DRMBL; DNA repair metallo-beta-lactamase

  6. NM_146114.3 → NP_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:239 → 343
    DRMBL; DNA repair metallo-beta-lactamase
    cd16297
    Location:1 → 171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain

  7. NM_175683.4 → NP_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:239 → 343
    DRMBL; DNA repair metallo-beta-lactamase
    cd16297
    Location:1 → 171
    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_006497462.4 → XP_006497525.2  protein artemis isoform X10

    Conserved Domains (2) summary
    cd16297
    Location:41 → 211
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:279 → 383
    DRMBL; DNA repair metallo-beta-lactamase

  2. XM_011238971.4 → XP_011237273.2  protein artemis isoform X8

    Conserved Domains (2) summary
    cd16297
    Location:1 → 171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:239 → 343
    DRMBL; DNA repair metallo-beta-lactamase

  3. XM_006497453.5 → XP_006497516.4  protein artemis isoform X3

    UniProtKB/TrEMBL
    Q3TLT6
    Conserved Domains (2) summary
    cd16297
    Location:1 → 171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:239 → 343
    DRMBL; DNA repair metallo-beta-lactamase

  4. XM_006497454.5 → XP_006497517.4  protein artemis isoform X4

    UniProtKB/TrEMBL
    Q3TLT6
    Conserved Domains (2) summary
    cd16297
    Location:1 → 171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:239 → 343
    DRMBL; DNA repair metallo-beta-lactamase

  5. XM_006497452.4 → XP_006497515.2  protein artemis isoform X1

    UniProtKB/TrEMBL
    Q3TLT6
    Conserved Domains (2) summary
    pfam07522
    Location:224 → 328
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:1 → 156
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  6. XM_036160614.1 → XP_036016507.1  protein artemis isoform X2

    Conserved Domains (2) summary
    pfam07522
    Location:172 → 276
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:1 → 104
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  7. XM_006497456.3 → XP_006497519.1  protein artemis isoform X6

    See identical proteins and their annotated locations for XP_006497519.1

    Conserved Domains (2) summary
    pfam07522
    Location:124 → 228
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:5 → 56
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  8. XM_006497460.1 → XP_006497523.1  protein artemis isoform X9

    See identical proteins and their annotated locations for XP_006497523.1

    Conserved Domains (2) summary
    pfam07522
    Location:93 → 197
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:1 → 25
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  9. XM_006497455.1 → XP_006497518.1  protein artemis isoform X5

    Conserved Domains (2) summary
    pfam07522
    Location:159 → 263
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:3 → 91
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  10. XM_006497459.1 → XP_006497522.1  protein artemis isoform X7

    See identical proteins and their annotated locations for XP_006497522.1

    Conserved Domains (2) summary
    pfam07522
    Location:109 → 213
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:25 → 41
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  11. XM_030249550.1 → XP_030105410.1  protein artemis isoform X14

    Conserved Domains (2) summary
    pfam07522
    Location:124 → 228
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:5 → 56
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  12. XM_030249529.2 → XP_030105389.1  protein artemis isoform X11

    Conserved Domains (2) summary
    pfam07522
    Location:124 → 228
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:5 → 56
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  13. XM_036160633.1 → XP_036016526.1  protein artemis isoform X14

    Conserved Domains (2) summary
    pfam07522
    Location:124 → 228
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:5 → 56
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  14. XM_011238972.2 → XP_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:109 → 213
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:25 → 41
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  15. XM_006497458.1 → XP_006497521.1  protein artemis isoform X7

    See identical proteins and their annotated locations for XP_006497521.1

    Conserved Domains (2) summary
    pfam07522
    Location:109 → 213
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:25 → 41
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  16. XM_030249547.1 → XP_030105407.1  protein artemis isoform X13

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

    Conserved Domains (2) summary
    pfam07522
    Location:93 → 197
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:1 → 25
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  18. XM_036160623.1 → XP_036016516.1  protein artemis isoform X6

    Conserved Domains (2) summary
    pfam07522
    Location:124 → 228
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:5 → 56
    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

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K4J0.2 GenPept UniProtKB/Swiss-Prot:Q8K4J0

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