DCLRE1C DNA cross-link repair 1C [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCLRE1Cprovided by HGNC
Official Full Name: DNA cross-link repair 1Cprovided by HGNC
Primary source: HGNC:HGNC:17642
See related: Ensembl:ENSG00000152457 MIM:605988; AllianceGenome:HGNC:17642
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C
Summary: This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded 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. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression: Ubiquitous expression in lymph node (RPKM 3.7), spleen (RPKM 2.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p13

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (14897359..14954432, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (14911323..14968389, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (14939358..14996431, complement)

Chromosome 10 - NC_000010.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lentiviral Gene Therapy for Artemis-Deficient SCID.
Title: Lentiviral Gene Therapy for Artemis-Deficient SCID.
Dynamics of the Artemis and DNA-PKcs Complex in the Repair of Double-Strand Breaks.
Title: Dynamics of the Artemis and DNA-PKcs Complex in the Repair of Double-Strand Breaks.
Structural analysis of the basal state of the Artemis:DNA-PKcs complex.
Title: Structural analysis of the basal state of the Artemis:DNA-PKcs complex.
Staring at the Naked Goddess: Unraveling the Structure and Reactivity of Artemis Endonuclease Interacting with a DNA Double Strand.
Title: Staring at the Naked Goddess: Unraveling the Structure and Reactivity of Artemis Endonuclease Interacting with a DNA Double Strand.
Structural analysis of the catalytic domain of Artemis endonuclease/SNM1C reveals distinct structural features.
Title: Structural analysis of the catalytic domain of Artemis endonuclease/SNM1C reveals distinct structural features.
Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.
Title: Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.
study presents one of three affected siblings who was diagnosed with DCLRE1C-deficient combined immunodeficiencies
Title: Intrauterine detection of DCLRE1C (Artemis) mutation by restriction fragment length polymorphism.
The results suggest that TDP1 and Artemis perform different functions in the repair of terminally blocked double-stranded breaks (DSBs) by the classical nonhomologous end joining pathway, and that whereas an Artemis deficiency prevents end joining of some DSBs, a TDP1 deficiency tends to promote DSB misjoining.
Title: TDP1 suppresses mis-joining of radiomimetic DNA double-strand breaks and cooperates with Artemis to promote optimal nonhomologous end joining.
Study provides evidence that Replication forks can break quickly in S-phase upon DNA replication stress induction by an endonucleolytic mechanism independent of MUS81. Two nucleases ARTEMIS and XPF-ERCC1 are responsible for this Rapid-Replication Fork Breakage (RRFB) which takes place during S and G2 phases of the cell cycle.
Title: DNA replication stress triggers rapid DNA replication fork breakage by Artemis and XPF.
Data suggest that stimulation of Artemis nuclease/DCLRE1C activity by XRCC4-DNA ligase IV hetero-complex and efficiency of blunt-end ligation are determined by structural configurations at the DNA ends. (XRCC4 = X-ray repair cross complementing 4)
Title: Effects of DNA end configuration on XRCC4-DNA ligase IV and its stimulation of Artemis activity.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Histiocytic medullary reticulosis MedGen: C2700553 OMIM: 603554 GeneReviews: Not available	Compare labs
Severe combined immunodeficiency due to DCLRE1C deficiency MedGen: C1865370 OMIM: 602450 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66273 (e-PCR)
- UniSTS:30976

A007G45 (e-PCR)
- UniSTS:60794

WI-15434 (e-PCR)
- UniSTS:80521

STS-R68462 (e-PCR)
- UniSTS:43683

GDB:335751 (e-PCR)
- UniSTS:156601

DCLRE1C__4679 (e-PCR)
- UniSTS:463579

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5'-3' DNA exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-3' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables endonuclease activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA endodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in V(D)J recombination	IEA Inferred from Electronic Annotation more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via nonhomologous end joining	TAS Traceable Author Statement more info
involved_in interstrand cross-link repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ionizing radiation	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
part_of nonhomologous end joining complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein artemis

Names: DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae); SNM1 homolog C; SNM1-like protein; severe combined immunodeficiency, type a (Athabascan)

NP_001029027.1

EC 3.1.-.-

NP_001029029.1

EC 3.1.-.-

NP_001029030.1

EC 3.1.-.-

NP_001276005.1

EC 3.1.-.-

NP_001276006.1

EC 3.1.-.-

NP_001276007.1

EC 3.1.-.-

NP_001276008.1

EC 3.1.-.-

NP_001337894.1

EC 3.1.-.-

NP_001337895.1

EC 3.1.-.-

NP_001337896.1

EC 3.1.-.-

NP_071932.2

EC 3.1.-.-

XP_011517922.1

EC 3.1.-.-

XP_011517923.1

EC 3.1.-.-

XP_047281604.1

EC 3.1.-.-

XP_047281605.1

EC 3.1.-.-

XP_047281606.1

EC 3.1.-.-

XP_047281607.1

EC 3.1.-.-

XP_047281608.1

EC 3.1.-.-

XP_054222566.1

EC 3.1.-.-

XP_054222567.1

EC 3.1.-.-

XP_054222568.1

EC 3.1.-.-

XP_054222569.1

EC 3.1.-.-

XP_054222570.1

EC 3.1.-.-

XP_054222571.1

EC 3.1.-.-

XP_054222572.1

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.

Genomic

NG_007276.1 RefSeqGene

Range

4664..54225

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_54

mRNA and Protein(s)

NM_001033855.3 → NP_001029027.1 protein artemis isoform a

See identical proteins and their annotated locations for NP_001029027.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) encodes the longest isoform (a).

Source sequence(s)

AJ296101, AL360083, AW954867, BQ932042

Consensus CDS

CCDS31149.1

UniProtKB/Swiss-Prot

D3DRT6, Q1HCL2, Q5JSR4, Q5JSR5, Q5JSR7, Q5JSR8, Q5JSR9, Q5JSS0, Q5JSS7, Q6PK14, Q8N101, Q8N132, Q8TBW9, Q96SD1, Q9BVW9, Q9HAM4

UniProtKB/TrEMBL

A0A8V8TM57

Related

ENSP00000367527.2, ENST00000378278.7

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_001033857.3 → NP_001029029.1 protein artemis isoform c

See identical proteins and their annotated locations for NP_001029029.1

Status: REVIEWED

Description

Transcript Variant: This variant (d, also called V1) contains an alternate exon in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).

Source sequence(s)

AF395747, AK021422, AL360083, BQ932042

Consensus CDS

CCDS31150.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:119 → 223

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:1 → 51

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001033858.3 → NP_001029030.1 protein artemis isoform c

See identical proteins and their annotated locations for NP_001029030.1

Status: REVIEWED

Description

Transcript Variant: This variant (c, also called V5) contains two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).

Source sequence(s)

AF395751, AK022922, AL360083, BQ932042

Consensus CDS

CCDS31150.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:119 → 223

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:1 → 51

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001289076.2 → NP_001276005.1 protein artemis isoform b

See identical proteins and their annotated locations for NP_001276005.1

Status: REVIEWED

Description

Transcript Variant: This variant (e) lacks two exons in the 5' coding region and intiates translation at an alternate downstream start codon, compared to variant a. It encodes isoform b, which has a shorter and distinct N-terminus compared to variant a. Variants b, e, and g encode the same isoform (b).

Source sequence(s)

AL360083, BC009185, BQ932042

Consensus CDS

CCDS7105.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:124 → 228

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:7 → 56

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001289077.2 → NP_001276006.1 protein artemis isoform c

See identical proteins and their annotated locations for NP_001276006.1

Status: REVIEWED

Description

Transcript Variant: This variant (f, also called V2) contains an alternate exon in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).

Source sequence(s)

AF395748, AL360083, BQ932042

Consensus CDS

CCDS31150.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:119 → 223

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:1 → 51

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001289078.2 → NP_001276007.1 protein artemis isoform b

See identical proteins and their annotated locations for NP_001276007.1

Status: REVIEWED

Description

Transcript Variant: This variant (g, also called V4) lacks two exons in the 5' coding region and intiates translation at an alternate downstream start codon, compared to variant a. It encodes isoform b, which has a shorter and distinct N-terminus compared to variant a. Variants b, e, and g encode the same isoform (b).

Source sequence(s)

AF395750, AL360083, BQ932042

Consensus CDS

CCDS7105.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:124 → 228

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:7 → 56

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001289079.2 → NP_001276008.1 protein artemis isoform c

See identical proteins and their annotated locations for NP_001276008.1

Status: REVIEWED

Description

Transcript Variant: This variant (h, also called V6) contains two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).

Source sequence(s)

AF395752, AL360083, BQ932042

Consensus CDS

CCDS31150.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:119 → 223

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:1 → 51

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001350965.2 → NP_001337894.1 protein artemis isoform d

Status: REVIEWED

Source sequence(s)

AC069544, AJ296101, AL360083, AW954867, BC022254, BM987109, BQ932042

Consensus CDS

CCDS91218.1

UniProtKB/TrEMBL

A0A8V8TKN9, A0A8V8TM57

Related

ENSP00000513066.1, ENST00000697047.1

Conserved Domains (1) summary

cd16297
Location:1 → 171

artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
NM_001350966.2 → NP_001337895.1 protein artemis isoform e

Status: REVIEWED

Source sequence(s)

AC069544, AJ296101, AL360083, BC022254, BM987109, BQ932042, EL735962

Consensus CDS

CCDS91216.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:124 → 228

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:7 → 56

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_001350967.2 → NP_001337896.1 protein artemis isoform f

Status: REVIEWED

Source sequence(s)

AC069544, AJ296101, AL360083, AW954867, BC022254, BM987109, DA291339

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:119 → 223

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:1 → 51

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
NM_022487.4 → NP_071932.2 protein artemis isoform b

See identical proteins and their annotated locations for NP_071932.2

Status: REVIEWED

Description

Transcript Variant: This variant (b, also called V3) lacks an exon in the 5' coding region and initiates translation at an alternate downstream start codon, compared to variant a. It encodes isoform b, which has a shorter and distinct N-terminus compared to variant a. Variants b, e, and g encode the same isoform (b).

Source sequence(s)

AK021422, AL360083, BE799340, BQ932042

Consensus CDS

CCDS7105.1

UniProtKB/TrEMBL

A8K3I3

Conserved Domains (2) summary

pfam07522
Location:124 → 228

DRMBL; DNA repair metallo-beta-lactamase

cl23716
Location:7 → 56

metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

RNA

NR_110297.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (i) contains three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AL360083, BC108276, BQ932042

Related

ENST00000378241.6
NR_146960.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC069544, AJ296101, AL360083, BC022254, BF356378, BM987109, BQ932042, DB110328, EL735962
NR_146961.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AF395747, AK021422, AL360083, BI494665, BQ708910, BQ932042, DA764814
NR_146962.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AJ296101, AL360083, AW954867, BC067233, BI494665, BQ708910, BQ932042

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

14897359..14954432 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425650.1 → XP_047281606.1 protein artemis isoform X1
XM_047425648.1 → XP_047281604.1 protein artemis isoform X1
XM_047425651.1 → XP_047281607.1 protein artemis isoform X1
XM_047425652.1 → XP_047281608.1 protein artemis isoform X2
XM_047425649.1 → XP_047281605.1 protein artemis isoform X1
XM_011519620.4 → XP_011517922.1 protein artemis isoform X3

UniProtKB/TrEMBL

A0A8V8TKH3

Related

ENSP00000512999.1, ENST00000492201.6

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
XM_011519621.3 → XP_011517923.1 protein artemis isoform X4

UniProtKB/TrEMBL

A0A8V8TKH3, A0A8V8TLX1

Related

ENSP00000513091.1, ENST00000697076.1

Conserved Domains (2) summary

pfam07522
Location:239 → 308

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