DCLRE1C Gene
protein-coding GIFtS: 59
GCID: GC10M014939
|
|
DNA cross-link repair 1C(Previous names: severe combined immunodeficiency, type a (Athabascan),...)
(Previous symbol: SCIDA)
| |
Aliases
for DCLRE1C gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| DNA Cross-Link Repair 1C1 2 | | SNM1-Like Protein2 3 | | SCIDA1 2 3 5 | | FLJ113601 | | SNM1C1 2 3 | | DCLREC1C2 | | ARTEMIS1 3 5 | | RS-SCID2 | | A-SCID1 2 | | Protein Artemis2 | | DNA Cross-Link Repair 1C (PSO2 Homolog, S. Cerevisiae)1 2 | | PSO2 Homolog2 | | Severe Combined Immunodeficiency, Type A (Athabascan)1 2 | | ASCID3 | | DNA Cross-Link Repair 1C Protein2 3 | | EC 3.1.-.-3 | | HSNM1C1 | | Protein A-SCID3 | | SNM1 Homolog C2 3 | | |
Export aliases for DCLRE1C gene to outside databasesPrevious GC identifers: GC10M014923 GC10M015090 GC10M014944 GC10M014953 GC10M014980 GC10M014859 |
Summaries
for DCLRE1C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DCLRE1C:
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein hassingle-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs andhairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene causeAthabascan-type severe combined immunodeficiency (SCIDA). (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1Function: Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains ofimmunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)Jrecombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA doublestrand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends andphosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ)pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonucleaseactivity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex withPRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation ofthe coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which requiresubstantial end-processing prior to religation by NHEJ
Gene Wiki entry for DCLRE1C
|
Genomic Views
for DCLRE1C gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_008705.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DCLRE1C gene promoter:
Pax-3 p53 Tal-1beta ITF-2 Evi-1 FOXL1 YY1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DCLRE1C
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCLRE1C |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10p13 Ensembl cytogenetic band: 10p13 HGNC cytogenetic band: 10p13DCLRE1C Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10M014939: view genomic region
(about GC identifiers)
Start:
|
14,939,358 bp from pter |
End:
|
14,996,431 bp from pter |
Size:
|
57,074 bases |
Orientation:
|
minus strand |
|
Proteins
for DCLRE1C gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1 (See
protein sequence)Recommended Name: Protein artemis Size: 692 amino acids; 78436 Da
Subunit: Interacts with ATM, BRCA1, PRKDC and TP53BP1. Also exhibits ATM- and phosphorylation-dependent interactionwith the MRN complex, composed of MRE11A/MRE11, RAD50, and NBN
Subcellular location: Nucleus
Sequence caution: Sequence=CAI40018.1; Type=Erroneous gene model prediction; Sequence=CAI40019.1; Type=Erroneous genemodel prediction; Sequence=CAI40021.1; Type=Erroneous gene model prediction; Sequence=CAI40023.1; Type=Erroneous genemodel prediction;
1 PDB 3D structure from  and Proteopedia  for DCLRE1C:4HTP (3D)
Secondary accessions: D3DRT6 Q1HCL2 Q5JSR4 Q5JSR5 Q5JSR7 Q5JSR8 Q5JSR9 Q5JSS0 Q5JSS7 Q6PK14 Q8N101Q8N132 Q8TBW9 Q9BVW9 Q9HAM4Alternative splicing: 4 isoforms: Q96SD1-1 Q96SD1-2 Q96SD1-3 Q96SD1-4 Explore the universe of human proteins at neXtProt for DCLRE1C: NX_Q96SD1
Post-translational modifications:
Phosphorylation on undefined residues by PRKDC may stimulate endonucleolytic activity on 5' and 3' hairpins andoverhangs. PRKDC must remain present, even after phosphorylation, for efficient hairpin opening. Also phosphorylatedby ATM in response to ionizing radiation (IR) and by ATR in response to ultraviolet (UV) radiation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96SD1
DCLRE1C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001029027.1 NP_001029029.1 NP_001029030.1 NP_071932.2
ENSEMBL proteins: ENSP00000367538 ENSP00000367492 ENSP00000350349 ENSP00000367496 ENSP00000380030 ENSP00000367503 ENSP00000367502 ENSP00000367527 ENSP00000367506 ENSP00000367488 ENSP00000391428 ENSP00000367487 ENSP00000413180 ENSP00000400529
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
DCLRE1C for ontologies About GeneDecksing
DCLRE1C Antibody Products:
Assay Products for DCLRE1C: |
Protein
Domains /
Families
for DCLRE1C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DCLRE1C for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96SD1ProtoNet protein and cluster: Q96SD1 UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1Similarity: Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family |
Function
for DCLRE1C gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1Function: Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains ofimmunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)Jrecombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA doublestrand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends andphosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ)pathway to form coding and signal joints respectively. This protein exhibits single-strand specific 5'-3' exonucleaseactivity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex withPRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation ofthe coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which requiresubstantial end-processing prior to religation by NHEJEnzyme Number (IUBMB): EC 3.1.-.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DCLRE1C (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DCLRE1C (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): DCLRE1C (NM_001033857) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DCLRE1C | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DCLRE1C |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCLRE1C |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
DCLRE1C for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for DCLRE1C:
Animal Models:
Mouse knock-outs for DCLRE1C: Dclre1ctm2Mcow Dclre1ctm1Fwa Dclre1ctm1.1Fwa Dclre1ctm1.1Jpdv Dclre1ctm2.2Jpdv
3 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Dclre1c):
DCLRE1C for phenotypes About GeneDecksing
|
Pathways & Interactions
for DCLRE1C gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Non-homologous end-joining | | | 2 | Primary immunodeficiency | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for DCLRE1C
1  GeneGo (Thomson Reuters) Pathway for DCLRE1C
2 
Kegg Pathways (Kegg details for DCLRE1C):
DCLRE1C for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DCLRE1C
STRING Interaction
Network Preview (showing 5 interactants - click image to see 20)
5/21 Interacting proteins for DCLRE1C (Q96SD13 ENSP000003675274) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
DCLRE1C for ontologies About GeneDecksing
|
Drugs & Compounds
for DCLRE1C gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
DCLRE1C for compounds About GeneDecksing
 Browse Tocris compounds for DCLRE1C
3 Novoseek chemical compound relationships for DCLRE1C gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| busulfan |
31.3 |
1 |
17062750 (1) |
| bleomycin |
30.1 |
3 |
17121861 (1), 16600297 (1) |
| etoposide |
17.9 |
2 |
15811628 (1) |
Search CenterWatch for drugs/clinical trials and news about DCLRE1C / DCR1C
|
Transcripts
for DCLRE1C gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DCLRE1C gene (4 alternative transcripts): NM_001033855.1 NM_001033857.1 NM_001033858.1 NM_022487.2 Unigene Cluster for DCLRE1C: DNA cross-link repair 1C Hs.656065 [show with all ESTs]Unigene Representative Sequence: NM_00103385817 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000378289(uc010qbx.2) ENST00000378246 ENST00000357717(uc009xjj.1)
ENST00000378249 ENST00000396817 ENST00000378255 ENST00000378254 ENST00000378278
ENST00000378258 ENST00000378242 ENST00000492201 ENST00000489845 ENST00000489161
ENST00000418843 ENST00000378241 ENST00000456122 ENST00000453695(uc001ink.3 uc001inl.3 uc001inr.3 uc009xji.3 uc001inm.3 uc001inn.3 uc001ino.3 uc009xjh.3 uc001inp.3 uc001inq.3 uc021pni.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DCLRE1C (see all 8)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DCLRE1C (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): DCLRE1C (NM_001033857) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DCLRE1C | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DCLRE1C |
Additional cDNA sequence: AF088055.1 AF395747.1 AF395748.1 AF395749.1 AF395750.1 AF395751.1 AF395752.1 AJ296101.1 AK021422.1 AK022922.1 AK093757.1 AK290598.1 AK307912.1 BC000863.1 BC009185.2 BC022254.1 BC108276.1 BX648858.1 16 DOTS entries: DT.100781429 DT.97842378 DT.112930 DT.100781428 DT.92054069 DT.110130 DT.40110830 DT.100781430 DT.91676429 DT.100008105 DT.100031194 DT.100031199 DT.40314610 DT.91676432 DT.95160182 DT.91676433 24/119 AceView cDNA sequences (see all 119): AI627918 AI417938 AW157543 AK093757 BQ932042 AA228082 BQ214281 N39992 BX283554 AI985288 BM543247 BF446415 AA714031 AI760521 AW157379 AF088055 BU163279 AI192851 R88713 AA261915 BM717948 AA262552 AW162326 AI692505
GeneLoc Exon Structure
5/15 Alternative Splicing Database (ASD) splice patterns (SP) for DCLRE1C (see all 15) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | |
| SP5: | | | | | | | | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for DCLRE1C
|
Expression
for DCLRE1C gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DCLRE1C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACAAAATG
About this image
See DCLRE1C Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DCLRE1C
SOURCE GeneReport for Unigene cluster: Hs.656065
UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1Tissue specificity: Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNAlevel). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination
SABiosciences Expression via Pathway-Focused PCR Array including DCLRE1C:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DCLRE1C
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DCLRE1C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DCLRE1C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DCLRE1C | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCLRE1C |
Orthologs
for DCLRE1C gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for DCLRE1C gene from 6/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DCLRE1C1 |
DNA cross-link repair 1C |
67.16(n)
64.74(a) |
|
430764 NM_001031594.1 NP_001026765.1 |
lizard
(Anolis carolinensis) |
Reptilia |
DCLRE1C6 |
-- |
64(a) |
1 ↔ 1 |
GL343559.1(273055-293124) |
zebrafish
(Danio rerio) |
Actinopterygii |
dclre1c1 |
DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae) |
59.54(n)
57.37(a) |
|
566285 NM_001045101.1 NP_001038566.1 |
mosquito
(Anopheles gambiae) |
Insecta |
AgaP_AGAP0005971 |
AGAP000597-PA |
42.11(n)
35.37(a) |
|
1271630 XM_310480.2 XP_310480.2 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G190256 |
DNA repair metallo-beta-lactamase family protein |
18(a) |
1 ↔ 1 |
1(6568853-6570939) |
rice
(Oryza sativa) |
Liliopsida |
---- |
DNA repair metallo-beta-lactamase, putative, expre...DNA repair metallo-beta-lactamase, putative, expre... |
15(a)15(a) |
1 ↔ many1 ↔ many |
1(38256898-38260723) 8(370457-372855) |
ENSEMBL Gene Tree for DCLRE1C (if available)
TreeFam Gene Tree for DCLRE1C (if available) |
Paralogs
for DCLRE1C gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DCLRE1C gene
- DCLRE1B2 DCLRE1A2
DCLRE1C for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for DCLRE1C
PGOHUM00000238362 PGOHUM00000238363
|
Genomic Variants
for DCLRE1C gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DCLRE1C (14939358 - 14996431 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for DCLRE1C
6 CNVs: 48486 29584 53139 53843 48487 23238
Human Gene Mutation Database (HGMD): DCLRE1C
Locus Specific Mutation Databases (LSDB): DCLRE1C
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DCLRE1C |
|
Disorders
/ Diseases
for DCLRE1C gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DCLRE1C for disorders About GeneDecksing
OMIM gene information: 605988
OMIM disorders: 602450 603554
UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1
Defects in DCLRE1C are a cause of severe combined immunodeficiency autosomal recessiveT-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]. SCIDrefers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment ofboth humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present ininfancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types ofSCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected byRS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)Jrecombination. A subset of cells from such patients show increased radiosensitivity Defects in DCLRE1C are the cause of severe combined immunodeficiency Athabaskan type (SCIDA) [MIM:602450].SCIDA is a variety of RS-SCID caused by a founder mutation in Athabascan-speaking native Americans, being inherited asan autosomal recessive trait with an estimated gene frequency of 2.1% in the Navajo population. Affected individualsexhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID Defects in DCLRE1C are a cause of Omenn syndrome (OS) [MIM:603554]. OS is characterized by severe combinedimmunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy and alopecia. Affected individualshave elevated T-lymphocyte counts with a restricted T-cell receptor (TCR) repertoire. They also generally lackB-lymphocytes, but have normal natural killer (NK) cell function (T+ B- NK+)
20/27  diseases for DCLRE1C (see all 27): About MalaCardssevere combined immunodeficiency combined immunodeficiency immunodeficiency severe combined immunodeficiency, athabascan type
dna ligase iv deficiency nijmegen breakage syndrome artemis deficiency omenn syndrome
ataxia telangiectasia pinguecula inflammatory bowel disease chronic lymphocytic leukemia
chronic myeloid leukemia lymphocytic leukemia myeloid leukemia leukopenia
prostate cancer multiple sclerosis alopecia ataxia
3 diseases from the University of Copenhagen DISEASES database for DCLRE1C:Severe combined immunodeficiency Omenn syndrome Pinguecula 10 Novoseek disease relationships for DCLRE1C gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| omenn syndrome |
90.5 |
6 |
16763459 (1), 19953608 (1), 15731174 (1), 19912631 (1) |
| severe combined immunodeficiency |
90.2 |
16 |
12592555 (2), 12921762 (2), 14628082 (1), 12224067 (1) (see all 11) |
| ataxia telangiectasia |
67.8 |
3 |
15574327 (1), 16971555 (1), 15966765 (1) |
| nijmegen breakage syndrome |
55.5 |
3 |
15966765 (1), 15723659 (1) |
| immunodeficiency |
42 |
7 |
12569164 (2), 19011808 (1), 12727634 (1), 15723659 (1) (see all 5) |
| genetic disorder |
34.9 |
1 |
16358361 (1) |
| lymphoma |
26.5 |
5 |
12569164 (3), 12727634 (1), 15761611 (1) |
| chromosomal aberrations |
10.4 |
1 |
15761611 (1) |
| tumors |
5.23 |
4 |
17384673 (2), 14983023 (1) |
| prostate cancer |
0 |
1 |
17453916 (1) |
Human Genome Epidemiology (HuGE) Navigator: DCLRE1C (8 documents)
Export disorders for DCLRE1C gene to outside databases
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Publications
for DCLRE1C gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for DCLRE1C gene, integrated from 9 sources (see all 126):
(articles sorted by number of sources associating them with DCLRE1C) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. (PubMed id 11336668)1, 2, 3 Moshous D.... de Villartay J.-P. (2001)
- Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. (PubMed id 15811628)1, 2, 9 Wang J.... Yannone S.M. (2005)
- Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. (PubMed id 15723659)1, 2, 9 Chen L.... Mizutani S. (2005)
- Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. (PubMed id 12406895)1, 2, 9 Noordzij J.G.... van Dongen J.J.M. (2003)
- Phosphorylation of Artemis following irradiation-induced DNA damage. (PubMed id 15468306)1, 2, 9 Poinsignon C.... de Villartay J.-P. (2004)
- The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps. (PubMed id 15936993)1, 2, 9 Ma Y.... Lieber M.R. (2005)
- Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. (PubMed id 12569164)1, 2, 9 Moshous D.... de Villartay J.-P. (2003)
- A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. (PubMed id 15574327)1, 2, 9 Riballo E.... Loebrich M. (2004)
- The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination. (PubMed id 14744996)1, 2, 9 Poinsignon C....de Villartay J.-P. (2004)
- Omenn syndrome due to ARTEMIS mutations. (PubMed id 15731174)1, 2, 9 Ege M....Pannicke U. (2005)
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External Searches for DCLRE1C gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing DCLRE1C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing DCLRE1C gene
(According to HUGE)
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Specialized Databases showing DCLRE1C gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for DCLRE1C | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for DCLRE1C | Genetics and Cytogenetics in Oncology and Haematology | | DCLRE1Cbase | http://bioinf.uta.fi/DCLRE1Cbase/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DCLRE1C | | NIEHS-SNPs | http://egp.gs.washington.edu/data/dclre1c/ |
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| Patent Information for DCLRE1C gene:
Search GeneIP for patents involving DCLRE1C
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DCLRE1C gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCLRE1C |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DCLRE1C |
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