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Entry version 144 (17 Jun 2020)
Sequence version 2 (19 Jul 2005)
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Protein

Protein artemis

Gene

DCLRE1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionEndonuclease, Exonuclease, Hydrolase, Nuclease
Biological processAdaptive immunity, DNA damage, DNA recombination, DNA repair, Immunity
LigandMagnesium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)

SIGNOR Signaling Network Open Resource

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SIGNORi
Q96SD1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DCLRE1C
Synonyms:ARTEMIS, ASCID, SCIDA, SNM1C
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000152457.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17642 DCLRE1C

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605988 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96SD1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
64421

MalaCards human disease database

More...
MalaCardsi
DCLRE1C
MIMi602450 phenotype
603554 phenotype

Open Targets

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OpenTargetsi
ENSG00000152457

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
39041 Omenn syndrome
275 Severe combined immunodeficiency due to DCLRE1C deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27176

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q96SD1 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
DCLRE1C

Domain mapping of disease mutations (DMDM)

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DMDMi
71153325

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002091221 – 692Protein artemisAdd BLAST692

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei380PhosphothreonineBy similarity1
Modified residuei385PhosphoserineBy similarity1
Modified residuei645Phosphoserine; by ATM2 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
Q96SD1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96SD1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96SD1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96SD1

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96SD1

PeptideAtlas

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PeptideAtlasi
Q96SD1

PRoteomics IDEntifications database

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PRIDEi
Q96SD1

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78103 [Q96SD1-1]
78104 [Q96SD1-2]
78105 [Q96SD1-3]
78106 [Q96SD1-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96SD1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96SD1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000152457 Expressed in buccal mucosa cell and 234 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96SD1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96SD1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000152457 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
122170, 36 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96SD1

Protein interaction database and analysis system

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IntActi
Q96SD1, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000367527

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q96SD1

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q96SD1 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1692
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96SD1

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1361 Eukaryota
COG1236 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157779

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_005260_1_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96SD1

KEGG Orthology (KO)

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KOi
K10887

Identification of Orthologs from Complete Genome Data

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OMAi
CYSTHAS

Database of Orthologous Groups

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OrthoDBi
1441774at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96SD1

TreeFam database of animal gene trees

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TreeFami
TF329572

Family and domain databases

Database of protein disorder

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DisProti
DP01162

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.60.15.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011084 DRMBL
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro

Pfam protein domain database

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Pfami
View protein in Pfam
PF07522 DRMBL, 1 hit
PF12706 Lactamase_B_2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56281 SSF56281, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B3KSJ7B3KSJ7_HUMAN
Protein artemis
DCLRE1C
345Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6R9W9X6R9W9_HUMAN
Protein artemis
DCLRE1C
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6RJV5X6RJV5_HUMAN
Protein artemis
DCLRE1C
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6RCQ3X6RCQ3_HUMAN
Protein artemis
DCLRE1C
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs121908159EnsemblClinVar.1
Natural variantiVAR_023078118G → V in RSSCID. 1 Publication1
Natural variantiVAR_023079135G → E in RSSCID. 1 Publication1
Natural variantiVAR_060689140A → V1 PublicationCorresponds to variant dbSNP:rs41297016EnsemblClinVar.1
Natural variantiVAR_060690153G → R1 PublicationCorresponds to variant dbSNP:rs41297018EnsemblClinVar.1
Natural variantiVAR_048892171P → R2 PublicationsCorresponds to variant dbSNP:rs35441642EnsemblClinVar.1
Natural variantiVAR_048893243H → R2 PublicationsCorresponds to variant dbSNP:rs12768894EnsemblClinVar.1
Natural variantiVAR_048894320S → C1 PublicationCorresponds to variant dbSNP:rs41298896EnsemblClinVar.1
Natural variantiVAR_060691329L → M1 PublicationCorresponds to variant dbSNP:rs41299658EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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
AC069544 Genomic DNA No translation available.
AL360083 Genomic DNA No translation available.
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31149.1 [Q96SD1-1]
CCDS31150.1 [Q96SD1-2]
CCDS7105.1 [Q96SD1-3]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357717; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64421

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64421

UCSC genome browser

More...
UCSCi
uc001inl.5 human [Q96SD1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
AC069544 Genomic DNA No translation available.
AL360083 Genomic DNA No translation available.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3W1BX-ray2.40B485-495[»]
3W1GX-ray2.55B485-495[»]
4HTPX-ray2.25C/E485-495[»]
6TT5X-ray1.50AAA1-361[»]
SMRiQ96SD1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122170, 36 interactors
CORUMiQ96SD1
IntActiQ96SD1, 21 interactors
STRINGi9606.ENSP00000367527

Chemistry databases

BindingDBiQ96SD1

PTM databases

iPTMnetiQ96SD1
PhosphoSitePlusiQ96SD1

Polymorphism and mutation databases

BioMutaiDCLRE1C
DMDMi71153325

Proteomic databases

EPDiQ96SD1
jPOSTiQ96SD1
MassIVEiQ96SD1
MaxQBiQ96SD1
PaxDbiQ96SD1
PeptideAtlasiQ96SD1
PRIDEiQ96SD1
ProteomicsDBi78103 [Q96SD1-1]
78104 [Q96SD1-2]
78105 [Q96SD1-3]
78106 [Q96SD1-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24989 339 antibodies

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

Comparative Toxicogenomics Database

More...
CTDi
64421
DisGeNETi64421
EuPathDBiHostDB:ENSG00000152457.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DCLRE1C
HGNCiHGNC:17642 DCLRE1C
HPAiENSG00000152457 Low tissue specificity
MalaCardsiDCLRE1C
MIMi602450 phenotype
603554 phenotype
605988 gene
neXtProtiNX_Q96SD1
OpenTargetsiENSG00000152457
Orphaneti39041 Omenn syndrome
275 Severe combined immunodeficiency due to DCLRE1C deficiency
PharmGKBiPA27176

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1361 Eukaryota
COG1236 LUCA
GeneTreeiENSGT00940000157779
HOGENOMiCLU_005260_1_1_1
InParanoidiQ96SD1
KOiK10887
OMAiCYSTHAS
OrthoDBi1441774at2759
PhylomeDBiQ96SD1
TreeFamiTF329572

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
64421 0 hits in 789 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
DCLRE1C human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
64421
PharosiQ96SD1 Tbio

Protein Ontology

More...
PROi
PR:Q96SD1
RNActiQ96SD1 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000152457 Expressed in buccal mucosa cell and 234 other tissues
ExpressionAtlasiQ96SD1 baseline and differential
GenevisibleiQ96SD1 HS

Family and domain databases

DisProtiDP01162
Gene3Di3.60.15.10, 1 hit
InterProiView protein in InterPro
IPR011084 DRMBL
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro
PfamiView protein in Pfam
PF07522 DRMBL, 1 hit
PF12706 Lactamase_B_2, 1 hit
SUPFAMiSSF56281 SSF56281, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDCR1C_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96SD1
Secondary accession number(s): D3DRT6
, Q1HCL2, Q5JSR4, Q5JSR5, Q5JSR7, Q5JSR8, Q5JSR9, Q5JSS0, Q5JSS7, Q6PK14, Q8N101, Q8N132, Q8TBW9, Q9BVW9, Q9HAM4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: June 17, 2020
This is version 144 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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