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

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: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Loss of Artemis leads to reduced immunoglobulin class switch recombination.
Title: Reduced immunoglobulin class switch recombination in the absence of Artemis.
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.
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.
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.
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.
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.
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.
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)

Spontaneous (1) 1 citation
Targeted (7) 1 citation
Chemically induced (ENU) (4)
Endonuclease-mediated (2)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:490500

AI661365 (e-PCR)
- UniSTS:165141

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

NoName (e-PCR)
- UniSTS:234318

AU022550 (e-PCR)
- UniSTS:178563

AU022550 (e-PCR)
- UniSTS:167332

AA930238 (e-PCR)
- UniSTS:207281

AA536750 (e-PCR)
- UniSTS:158911

RH124451 (e-PCR)
- UniSTS:161273

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 endonuclease activity	IEA Inferred from Electronic Annotation more info
enables exonuclease activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nuclease activity	IEA Inferred from Electronic Annotation 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 damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within V(D)J recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within 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
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
part_of nonhomologous end joining complex	ISO Inferred from Sequence Orthology 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

EC 3.1.-.-

NP_001289603.1

EC 3.1.-.-

NP_001289613.1

EC 3.1.-.-

NP_001349832.1

EC 3.1.-.-

NP_001349833.1

EC 3.1.-.-

NP_666226.2

EC 3.1.-.-

NP_783614.1

EC 3.1.-.-

XP_006497515.2

EC 3.1.-.-

XP_006497516.4

EC 3.1.-.-

XP_006497517.4

EC 3.1.-.-

XP_006497518.1

EC 3.1.-.-

XP_006497519.1

EC 3.1.-.-

XP_006497521.1

EC 3.1.-.-

XP_006497522.1

EC 3.1.-.-

XP_006497523.1

EC 3.1.-.-

XP_006497525.2

EC 3.1.-.-

XP_011237273.2

EC 3.1.-.-

XP_011237274.1

EC 3.1.-.-

XP_030105389.1

EC 3.1.-.-

XP_030105407.1

EC 3.1.-.-

XP_030105410.1

EC 3.1.-.-

XP_036016507.1

EC 3.1.-.-

XP_036016516.1

EC 3.1.-.-

XP_036016522.1

EC 3.1.-.-

XP_036016526.1

EC 3.1.-.-

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)

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
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
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
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
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
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
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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

3425112..3475248

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
XM_030249547.1 → XP_030105407.1 protein artemis isoform X13
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
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