Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein artemis

Gene

DCLRE1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated 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' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ.11 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Exonuclease, Hydrolase, Nuclease

Keywords - Biological processi

Adaptive immunity, DNA damage, DNA recombination, DNA repair, Immunity

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

ReactomeiR-HSA-5693571. Nonhomologous End-Joining (NHEJ).
SIGNORiQ96SD1.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein artemis (EC:3.1.-.-)
Alternative name(s):
DNA cross-link repair 1C protein
Protein A-SCID
SNM1 homolog C
Short name:
hSNM1C
SNM1-like protein
Gene namesi
Name:DCLRE1C
Synonyms:ARTEMIS, ASCID, SCIDA, SNM1C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:17642. DCLRE1C.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity.
See also OMIM:602450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023078118G → V in RSSCID. 1 Publication1
Natural variantiVAR_023079135G → E in RSSCID. 1 Publication1
Severe combined immunodeficiency Athabaskan type (SCIDA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID.
See also OMIM:602450
Omenn syndrome (OS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.
See also OMIM:603554

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi17D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications1
Mutagenesisi33H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications1
Mutagenesisi35H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications1
Mutagenesisi37D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 3 Publications1
Mutagenesisi38H → A: Reduces PRKDC-dependent endonuclease activity, although V(D)J recombination is largely normal. 2 Publications1
Mutagenesisi115H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications1
Mutagenesisi136D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications1
Mutagenesisi165D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 3 Publications1
Mutagenesisi319H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications1
Mutagenesisi516S → A: Reduced IR induced phosphorylation; when associated with A-534; A-538; A-548; A-553; A-561 and A-562. 1 Publication1
Mutagenesisi534S → A: Reduced IR induced phosphorylation; when associated with A-516; A-538; A-548; A-553; A-561 and A-562. 1 Publication1
Mutagenesisi538S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-548; A-553; A-561 and A-562. 1 Publication1
Mutagenesisi548S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-553; A-561 and A-562. 1 Publication1
Mutagenesisi553S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-561 and A-562. 1 Publication1
Mutagenesisi561S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-562. 1 Publication1
Mutagenesisi562S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-561. 1 Publication1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNETi64421.
MalaCardsiDCLRE1C.
MIMi602450. phenotype.
603554. phenotype.
OpenTargetsiENSG00000152457.
Orphaneti39041. Omenn syndrome.
275. Severe combined immunodeficiency due to DCLRE1C deficiency.
PharmGKBiPA27176.

Polymorphism and mutation databases

BioMutaiDCLRE1C.
DMDMi71153325.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002091221 – 692Protein artemisAdd BLAST692

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei380PhosphothreonineBy similarity1
Modified residuei385PhosphoserineBy similarity1
Modified residuei645Phosphoserine; by ATM2 Publications1

Post-translational modificationi

Phosphorylation on undefined residues by PRKDC may stimulate endonucleolytic activity on 5' and 3' hairpins and overhangs. PRKDC must remain present, even after phosphorylation, for efficient hairpin opening. Also phosphorylated by ATM in response to ionizing radiation (IR) and by ATR in response to ultraviolet (UV) radiation.7 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96SD1.
MaxQBiQ96SD1.
PaxDbiQ96SD1.
PeptideAtlasiQ96SD1.
PRIDEiQ96SD1.

PTM databases

iPTMnetiQ96SD1.
PhosphoSitePlusiQ96SD1.

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination.1 Publication

Gene expression databases

BgeeiENSG00000152457.
ExpressionAtlasiQ96SD1. baseline and differential.
GenevisibleiQ96SD1. HS.

Interactioni

Subunit structurei

Interacts with ATM, BRCA1, PRKDC and TP53BP1. Also exhibits ATM- and phosphorylation-dependent interaction with the MRN complex, composed of MRE11A/MRE11, RAD50, and NBN.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
LIG4P4991711EBI-11694104,EBI-847896
PRKDCP785274EBI-11694104,EBI-352053

Protein-protein interaction databases

BioGridi122170. 35 interactors.
IntActiQ96SD1. 3 interactors.
STRINGi9606.ENSP00000367527.

Chemistry databases

BindingDBiQ96SD1.

Structurei

Secondary structure

1692
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi489 – 491Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3W1BX-ray2.40B485-495[»]
3W1GX-ray2.55B485-495[»]
4HTPX-ray2.25C/E485-495[»]
ProteinModelPortaliQ96SD1.
SMRiQ96SD1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1361. Eukaryota.
COG1236. LUCA.
GeneTreeiENSGT00530000063183.
HOVERGENiHBG081421.
InParanoidiQ96SD1.
KOiK10887.
OMAiNVCYSTH.
OrthoDBiEOG091G0TAU.
PhylomeDBiQ96SD1.
TreeFamiTF329572.

Family and domain databases

Gene3Di3.60.15.10. 1 hit.
InterProiIPR011084. DRMBL.
IPR001279. Metallo-B-lactamas.
[Graphical view]
PfamiPF07522. DRMBL. 1 hit.
PF12706. Lactamase_B_2. 1 hit.
[Graphical view]
SUPFAMiSSF56281. SSF56281. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96SD1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSFEGQMAE YPTISIDRFD RENLRARAYF LSHCHKDHMK GLRAPTLKRR
60 70 80 90 100
LECSLKVYLY CSPVTKELLL TSPKYRFWKK RIISIEIETP TQISLVDEAS
110 120 130 140 150
GEKEEIVVTL LPAGHCPGSV MFLFQGNNGT VLYTGDFRLA QGEAARMELL
160 170 180 190 200
HSGGRVKDIQ SVYLDTTFCD PRFYQIPSRE ECLSGVLELV RSWITRSPYH
210 220 230 240 250
VVWLNCKAAY GYEYLFTNLS EELGVQVHVN KLDMFRNMPE ILHHLTTDRN
260 270 280 290 300
TQIHACRHPK AEEYFQWSKL PCGITSRNRI PLHIISIKPS TMWFGERSRK
310 320 330 340 350
TNVIVRTGES SYRACFSFHS SYSEIKDFLS YLCPVNAYPN VIPVGTTMDK
360 370 380 390 400
VVEILKPLCR SSQSTEPKYK PLGKLKRART VHRDSEEEDD YLFDDPLPIP
410 420 430 440 450
LRHKVPYPET FHPEVFSMTA VSEKQPEKLR QTPGCCRAEC MQSSRFTNFV
460 470 480 490 500
DCEESNSESE EEVGIPASLQ GDLGSVLHLQ KADGDVPQWE VFFKRNDEIT
510 520 530 540 550
DESLENFPSS TVAGGSQSPK LFSDSDGEST HISSQNSSQS THITEQGSQG
560 570 580 590 600
WDSQSDTVLL SSQERNSGDI TSLDKADYRP TIKENIPASL MEQNVICPKD
610 620 630 640 650
TYSDLKSRDK DVTIVPSTGE PTTLSSETHI PEEKSLLNLS TNADSQSSSD
660 670 680 690
FEVPSTPEAE LPKREHLQYL YEKLATGESI AVKKRKCSLL DT
Length:692
Mass (Da):78,436
Last modified:July 19, 2005 - v2
Checksum:i24B857F5B473637B
GO
Isoform 2 (identifier: Q96SD1-2) [UniParc]FASTAAdd to basket
Also known as: SCIDA

The sequence of this isoform differs from the canonical sequence as follows:
     1-120: Missing.

Show »
Length:572
Mass (Da):64,652
Checksum:i4FDCC319F5C79FBB
GO
Isoform 3 (identifier: Q96SD1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: Missing.
     116-121: CPGSVM → MKHQER

Show »
Length:577
Mass (Da):65,331
Checksum:i9E1705D68AD06BDE
GO
Isoform 4 (identifier: Q96SD1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     386-434: EEEDDYLFDD...QPEKLRQTPG → GSHSVTQARM...GAYRHAQLMI
     435-692: Missing.

Show »
Length:434
Mass (Da):49,944
Checksum:i3C651C16302A8AFA
GO

Sequence cautioni

The sequence CAI40018 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI40019 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI40021 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI40023 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti560L → V in CAC37570 (PubMed:11336668).Curated1
Sequence conflicti560L → V in AAM53255 (PubMed:12055248).Curated1
Sequence conflicti560L → V in AAM53256 (PubMed:12055248).Curated1
Sequence conflicti560L → V in AAM53257 (PubMed:12055248).Curated1
Sequence conflicti560L → V in AAM53258 (PubMed:12055248).Curated1
Sequence conflicti560L → V in AAM53259 (PubMed:12055248).Curated1
Sequence conflicti560L → V in AAM53260 (PubMed:12055248).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02307735H → D in Omenn syndrome. 1 PublicationCorresponds to variant rs121908159dbSNPEnsembl.1
Natural variantiVAR_023078118G → V in RSSCID. 1 Publication1
Natural variantiVAR_023079135G → E in RSSCID. 1 Publication1
Natural variantiVAR_060689140A → V.1 PublicationCorresponds to variant rs41297016dbSNPEnsembl.1
Natural variantiVAR_060690153G → R.1 PublicationCorresponds to variant rs41297018dbSNPEnsembl.1
Natural variantiVAR_048892171P → R.2 PublicationsCorresponds to variant rs35441642dbSNPEnsembl.1
Natural variantiVAR_048893243H → R.2 PublicationsCorresponds to variant rs12768894dbSNPEnsembl.1
Natural variantiVAR_048894320S → C.1 PublicationCorresponds to variant rs41298896dbSNPEnsembl.1
Natural variantiVAR_060691329L → M.1 PublicationCorresponds to variant rs41299658dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0148881 – 120Missing in isoform 2. 1 PublicationAdd BLAST120
Alternative sequenceiVSP_0148891 – 115Missing in isoform 3. 3 PublicationsAdd BLAST115
Alternative sequenceiVSP_014890116 – 121CPGSVM → MKHQER in isoform 3. 3 Publications6
Alternative sequenceiVSP_014891386 – 434EEEDD…RQTPG → GSHSVTQARMRWCHHDSLYP LTPGIKRSSCLSLLTSWITG AYRHAQLMI in isoform 4. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_014892435 – 692Missing in isoform 4. 1 PublicationAdd BLAST258

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ296101 mRNA. Translation: CAC37570.1.
AF395747 mRNA. Translation: AAM53255.1.
AF395748 mRNA. Translation: AAM53256.1.
AF395749 mRNA. Translation: AAM53257.1.
AF395750 mRNA. Translation: AAM53258.1.
AF395751 mRNA. Translation: AAM53259.1.
AF395752 mRNA. Translation: AAM53260.1.
AK021422 mRNA. Translation: BAB13820.1.
DQ504427 Genomic DNA. Translation: ABF47101.1.
AL360083 Genomic DNA. Translation: CAI40018.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40019.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40020.1.
AL360083 Genomic DNA. Translation: CAI40021.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40022.1.
AL360083 Genomic DNA. Translation: CAI40023.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40024.1.
AL360083, AC069544 Genomic DNA. Translation: CAI40025.1.
CH471072 Genomic DNA. Translation: EAW86248.1.
CH471072 Genomic DNA. Translation: EAW86250.1.
CH471072 Genomic DNA. Translation: EAW86251.1.
BC000863 mRNA. Translation: AAH00863.1.
BC009185 mRNA. Translation: AAH09185.1.
BC022254 mRNA. Translation: AAH22254.1.
CCDSiCCDS31149.1. [Q96SD1-1]
CCDS31150.1. [Q96SD1-2]
CCDS7105.1. [Q96SD1-3]
RefSeqiNP_001029027.1. NM_001033855.2. [Q96SD1-1]
NP_001029029.1. NM_001033857.2. [Q96SD1-2]
NP_001029030.1. NM_001033858.2. [Q96SD1-2]
NP_001276005.1. NM_001289076.1. [Q96SD1-3]
NP_001276006.1. NM_001289077.1. [Q96SD1-2]
NP_001276007.1. NM_001289078.1. [Q96SD1-3]
NP_001276008.1. NM_001289079.1. [Q96SD1-2]
NP_071932.2. NM_022487.3. [Q96SD1-3]
XP_006717554.1. XM_006717491.3. [Q96SD1-3]
XP_011517918.1. XM_011519616.1. [Q96SD1-3]
XP_011517919.1. XM_011519617.1. [Q96SD1-3]
XP_011517921.1. XM_011519619.1. [Q96SD1-2]
XP_016872046.1. XM_017016557.1. [Q96SD1-3]
XP_016872047.1. XM_017016558.1. [Q96SD1-2]
UniGeneiHs.655932.
Hs.656065.

Genome annotation databases

EnsembliENST00000357717; ENSP00000350349; ENSG00000152457. [Q96SD1-3]
ENST00000378246; ENSP00000367492; ENSG00000152457. [Q96SD1-3]
ENST00000378249; ENSP00000367496; ENSG00000152457. [Q96SD1-3]
ENST00000378254; ENSP00000367502; ENSG00000152457. [Q96SD1-2]
ENST00000378255; ENSP00000367503; ENSG00000152457. [Q96SD1-2]
ENST00000378258; ENSP00000367506; ENSG00000152457. [Q96SD1-2]
ENST00000378278; ENSP00000367527; ENSG00000152457. [Q96SD1-1]
ENST00000378289; ENSP00000367538; ENSG00000152457. [Q96SD1-4]
ENST00000396817; ENSP00000380030; ENSG00000152457. [Q96SD1-2]
GeneIDi64421.
KEGGihsa:64421.
UCSCiuc001inl.5. human. [Q96SD1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

DCLRE1Cbase

DCLRE1C mutation db

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ296101 mRNA. Translation: CAC37570.1.
AF395747 mRNA. Translation: AAM53255.1.
AF395748 mRNA. Translation: AAM53256.1.
AF395749 mRNA. Translation: AAM53257.1.
AF395750 mRNA. Translation: AAM53258.1.
AF395751 mRNA. Translation: AAM53259.1.
AF395752 mRNA. Translation: AAM53260.1.
AK021422 mRNA. Translation: BAB13820.1.
DQ504427 Genomic DNA. Translation: ABF47101.1.
AL360083 Genomic DNA. Translation: CAI40018.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40019.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40020.1.
AL360083 Genomic DNA. Translation: CAI40021.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40022.1.
AL360083 Genomic DNA. Translation: CAI40023.1. Sequence problems.
AL360083 Genomic DNA. Translation: CAI40024.1.
AL360083, AC069544 Genomic DNA. Translation: CAI40025.1.
CH471072 Genomic DNA. Translation: EAW86248.1.
CH471072 Genomic DNA. Translation: EAW86250.1.
CH471072 Genomic DNA. Translation: EAW86251.1.
BC000863 mRNA. Translation: AAH00863.1.
BC009185 mRNA. Translation: AAH09185.1.
BC022254 mRNA. Translation: AAH22254.1.
CCDSiCCDS31149.1. [Q96SD1-1]
CCDS31150.1. [Q96SD1-2]
CCDS7105.1. [Q96SD1-3]
RefSeqiNP_001029027.1. NM_001033855.2. [Q96SD1-1]
NP_001029029.1. NM_001033857.2. [Q96SD1-2]
NP_001029030.1. NM_001033858.2. [Q96SD1-2]
NP_001276005.1. NM_001289076.1. [Q96SD1-3]
NP_001276006.1. NM_001289077.1. [Q96SD1-2]
NP_001276007.1. NM_001289078.1. [Q96SD1-3]
NP_001276008.1. NM_001289079.1. [Q96SD1-2]
NP_071932.2. NM_022487.3. [Q96SD1-3]
XP_006717554.1. XM_006717491.3. [Q96SD1-3]
XP_011517918.1. XM_011519616.1. [Q96SD1-3]
XP_011517919.1. XM_011519617.1. [Q96SD1-3]
XP_011517921.1. XM_011519619.1. [Q96SD1-2]
XP_016872046.1. XM_017016557.1. [Q96SD1-3]
XP_016872047.1. XM_017016558.1. [Q96SD1-2]
UniGeneiHs.655932.
Hs.656065.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3W1BX-ray2.40B485-495[»]
3W1GX-ray2.55B485-495[»]
4HTPX-ray2.25C/E485-495[»]
ProteinModelPortaliQ96SD1.
SMRiQ96SD1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122170. 35 interactors.
IntActiQ96SD1. 3 interactors.
STRINGi9606.ENSP00000367527.

Chemistry databases

BindingDBiQ96SD1.

PTM databases

iPTMnetiQ96SD1.
PhosphoSitePlusiQ96SD1.

Polymorphism and mutation databases

BioMutaiDCLRE1C.
DMDMi71153325.

Proteomic databases

EPDiQ96SD1.
MaxQBiQ96SD1.
PaxDbiQ96SD1.
PeptideAtlasiQ96SD1.
PRIDEiQ96SD1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357717; ENSP00000350349; ENSG00000152457. [Q96SD1-3]
ENST00000378246; ENSP00000367492; ENSG00000152457. [Q96SD1-3]
ENST00000378249; ENSP00000367496; ENSG00000152457. [Q96SD1-3]
ENST00000378254; ENSP00000367502; ENSG00000152457. [Q96SD1-2]
ENST00000378255; ENSP00000367503; ENSG00000152457. [Q96SD1-2]
ENST00000378258; ENSP00000367506; ENSG00000152457. [Q96SD1-2]
ENST00000378278; ENSP00000367527; ENSG00000152457. [Q96SD1-1]
ENST00000378289; ENSP00000367538; ENSG00000152457. [Q96SD1-4]
ENST00000396817; ENSP00000380030; ENSG00000152457. [Q96SD1-2]
GeneIDi64421.
KEGGihsa:64421.
UCSCiuc001inl.5. human. [Q96SD1-1]

Organism-specific databases

CTDi64421.
DisGeNETi64421.
GeneCardsiDCLRE1C.
HGNCiHGNC:17642. DCLRE1C.
MalaCardsiDCLRE1C.
MIMi602450. phenotype.
603554. phenotype.
605988. gene.
neXtProtiNX_Q96SD1.
OpenTargetsiENSG00000152457.
Orphaneti39041. Omenn syndrome.
275. Severe combined immunodeficiency due to DCLRE1C deficiency.
PharmGKBiPA27176.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1361. Eukaryota.
COG1236. LUCA.
GeneTreeiENSGT00530000063183.
HOVERGENiHBG081421.
InParanoidiQ96SD1.
KOiK10887.
OMAiNVCYSTH.
OrthoDBiEOG091G0TAU.
PhylomeDBiQ96SD1.
TreeFamiTF329572.

Enzyme and pathway databases

ReactomeiR-HSA-5693571. Nonhomologous End-Joining (NHEJ).
SIGNORiQ96SD1.

Miscellaneous databases

ChiTaRSiDCLRE1C. human.
GenomeRNAii64421.
PROiQ96SD1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152457.
ExpressionAtlasiQ96SD1. baseline and differential.
GenevisibleiQ96SD1. HS.

Family and domain databases

Gene3Di3.60.15.10. 1 hit.
InterProiIPR011084. DRMBL.
IPR001279. Metallo-B-lactamas.
[Graphical view]
PfamiPF07522. DRMBL. 1 hit.
PF12706. Lactamase_B_2. 1 hit.
[Graphical view]
SUPFAMiSSF56281. SSF56281. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDCR1C_HUMAN
AccessioniPrimary (citable) accession number: Q96SD1
Secondary accession number(s): D3DRT6
, Q1HCL2, Q5JSR4, Q5JSR5, Q5JSR7, Q5JSR8, Q5JSR9, Q5JSS0, Q5JSS7, Q6PK14, Q8N101, Q8N132, Q8TBW9, Q9BVW9, Q9HAM4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: November 2, 2016
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.