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Q96SD1

- DCR1C_HUMAN

UniProt

Q96SD1 - DCR1C_HUMAN

Protein

Protein artemis

Gene

DCLRE1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    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

    1. 5'-3' exonuclease activity Source: MGI
    2. single-stranded DNA endodeoxyribonuclease activity Source: MGI

    GO - Biological processi

    1. B cell differentiation Source: Ensembl
    2. DNA catabolic process, endonucleolytic Source: GOC
    3. DNA recombination Source: UniProtKB-KW
    4. double-strand break repair Source: Ensembl
    5. nucleic acid phosphodiester bond hydrolysis Source: GOC
    6. response to ionizing radiation Source: Ensembl
    7. telomere maintenance Source: Ensembl

    Keywords - Molecular functioni

    Endonuclease, Exonuclease, Hydrolase, Nuclease

    Keywords - Biological processi

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

    Keywords - Ligandi

    Magnesium

    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
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:17642. DCLRE1C.

    Subcellular locationi

    Nucleus 2 Publications

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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) [MIM:602450]: A 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Severe combined immunodeficiency Athabaskan type (SCIDA) [MIM:602450]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Omenn syndrome (OS) [MIM:603554]: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi17 – 171D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications
    Mutagenesisi33 – 331H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications
    Mutagenesisi35 – 351H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications
    Mutagenesisi37 – 371D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 3 Publications
    Mutagenesisi38 – 381H → A: Reduces PRKDC-dependent endonuclease activity, although V(D)J recombination is largely normal. 2 Publications
    Mutagenesisi115 – 1151H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications
    Mutagenesisi136 – 1361D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications
    Mutagenesisi165 – 1651D → N or A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 3 Publications
    Mutagenesisi319 – 3191H → A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. 2 Publications
    Mutagenesisi516 – 5161S → A: Reduced IR induced phosphorylation; when associated with A-534; A-538; A-548; A-553; A-561 and A-562. 1 Publication
    Mutagenesisi534 – 5341S → A: Reduced IR induced phosphorylation; when associated with A-516; A-538; A-548; A-553; A-561 and A-562. 1 Publication
    Mutagenesisi538 – 5381S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-548; A-553; A-561 and A-562. 1 Publication
    Mutagenesisi548 – 5481S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-553; A-561 and A-562. 1 Publication
    Mutagenesisi553 – 5531S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-561 and A-562. 1 Publication
    Mutagenesisi561 – 5611S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-562. 1 Publication
    Mutagenesisi562 – 5621S → A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-561. 1 Publication

    Keywords - Diseasei

    Disease mutation, SCID

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 692692Protein artemisPRO_0000209122Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei645 – 6451Phosphoserine; by ATM2 Publications

    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

    MaxQBiQ96SD1.
    PaxDbiQ96SD1.
    PRIDEiQ96SD1.

    PTM databases

    PhosphoSiteiQ96SD1.

    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

    ArrayExpressiQ96SD1.
    BgeeiQ96SD1.
    GenevestigatoriQ96SD1.

    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

    Protein-protein interaction databases

    BioGridi122170. 12 interactions.

    Structurei

    Secondary structure

    1
    692
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi489 – 4913

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3W1BX-ray2.40B485-495[»]
    3W1GX-ray2.55B485-495[»]
    4HTPX-ray2.25C/E485-495[»]
    ProteinModelPortaliQ96SD1.
    SMRiQ96SD1. Positions 3-355.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1236.
    HOVERGENiHBG081421.
    InParanoidiQ96SD1.
    KOiK10887.
    OMAiMFRNMPD.
    OrthoDBiEOG70CR8F.
    PhylomeDBiQ96SD1.
    TreeFamiTF329572.

    Family and domain databases

    Gene3Di3.60.15.10. 1 hit.
    InterProiIPR001279. Beta-lactamas-like.
    IPR011084. DRMBL.
    [Graphical view]
    PfamiPF07522. DRMBL. 1 hit.
    [Graphical view]
    SMARTiSM00849. Lactamase_B. 1 hit.
    [Graphical view]
    SUPFAMiSSF56281. SSF56281. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    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

    MSSFEGQMAE YPTISIDRFD RENLRARAYF LSHCHKDHMK GLRAPTLKRR    50
    LECSLKVYLY CSPVTKELLL TSPKYRFWKK RIISIEIETP TQISLVDEAS 100
    GEKEEIVVTL LPAGHCPGSV MFLFQGNNGT VLYTGDFRLA QGEAARMELL 150
    HSGGRVKDIQ SVYLDTTFCD PRFYQIPSRE ECLSGVLELV RSWITRSPYH 200
    VVWLNCKAAY GYEYLFTNLS EELGVQVHVN KLDMFRNMPE ILHHLTTDRN 250
    TQIHACRHPK AEEYFQWSKL PCGITSRNRI PLHIISIKPS TMWFGERSRK 300
    TNVIVRTGES SYRACFSFHS SYSEIKDFLS YLCPVNAYPN VIPVGTTMDK 350
    VVEILKPLCR SSQSTEPKYK PLGKLKRART VHRDSEEEDD YLFDDPLPIP 400
    LRHKVPYPET FHPEVFSMTA VSEKQPEKLR QTPGCCRAEC MQSSRFTNFV 450
    DCEESNSESE EEVGIPASLQ GDLGSVLHLQ KADGDVPQWE VFFKRNDEIT 500
    DESLENFPSS TVAGGSQSPK LFSDSDGEST HISSQNSSQS THITEQGSQG 550
    WDSQSDTVLL SSQERNSGDI TSLDKADYRP TIKENIPASL MEQNVICPKD 600
    TYSDLKSRDK DVTIVPSTGE PTTLSSETHI PEEKSLLNLS TNADSQSSSD 650
    FEVPSTPEAE LPKREHLQYL YEKLATGESI AVKKRKCSLL DT 692
    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 CAI40018.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI40019.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI40021.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI40023.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti560 – 5601L → V in CAC37570. (PubMed:11336668)Curated
    Sequence conflicti560 – 5601L → V in AAM53255. (PubMed:12055248)Curated
    Sequence conflicti560 – 5601L → V in AAM53256. (PubMed:12055248)Curated
    Sequence conflicti560 – 5601L → V in AAM53257. (PubMed:12055248)Curated
    Sequence conflicti560 – 5601L → V in AAM53258. (PubMed:12055248)Curated
    Sequence conflicti560 – 5601L → V in AAM53259. (PubMed:12055248)Curated
    Sequence conflicti560 – 5601L → V in AAM53260. (PubMed:12055248)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351H → D in Omenn syndrome. 1 Publication
    VAR_023077
    Natural varianti118 – 1181G → V in RS-SCID. 1 Publication
    VAR_023078
    Natural varianti135 – 1351G → E in RS-SCID. 1 Publication
    VAR_023079
    Natural varianti140 – 1401A → V.1 Publication
    Corresponds to variant rs41297016 [ dbSNP | Ensembl ].
    VAR_060689
    Natural varianti153 – 1531G → R.1 Publication
    Corresponds to variant rs41297018 [ dbSNP | Ensembl ].
    VAR_060690
    Natural varianti171 – 1711P → R.2 Publications
    Corresponds to variant rs35441642 [ dbSNP | Ensembl ].
    VAR_048892
    Natural varianti243 – 2431H → R.2 Publications
    Corresponds to variant rs12768894 [ dbSNP | Ensembl ].
    VAR_048893
    Natural varianti320 – 3201S → C.1 Publication
    Corresponds to variant rs41298896 [ dbSNP | Ensembl ].
    VAR_048894
    Natural varianti329 – 3291L → M.1 Publication
    Corresponds to variant rs41299658 [ dbSNP | Ensembl ].
    VAR_060691

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 120120Missing in isoform 2. 1 PublicationVSP_014888Add
    BLAST
    Alternative sequencei1 – 115115Missing in isoform 3. 3 PublicationsVSP_014889Add
    BLAST
    Alternative sequencei116 – 1216CPGSVM → MKHQER in isoform 3. 3 PublicationsVSP_014890
    Alternative sequencei386 – 43449EEEDD…RQTPG → GSHSVTQARMRWCHHDSLYP LTPGIKRSSCLSLLTSWITG AYRHAQLMI in isoform 4. 1 PublicationVSP_014891Add
    BLAST
    Alternative sequencei435 – 692258Missing in isoform 4. 1 PublicationVSP_014892Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005252615.1. XM_005252558.1. [Q96SD1-2]
    XP_006717554.1. XM_006717491.1. [Q96SD1-3]
    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.3. human. [Q96SD1-1]
    uc001ino.3. human. [Q96SD1-3]
    uc010qbx.2. human. [Q96SD1-4]

    Polymorphism databases

    DMDMi71153325.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    DCLRE1Cbase

    DCLRE1C mutation db

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS31149.1. [Q96SD1-1 ]
    CCDS31150.1. [Q96SD1-2 ]
    CCDS7105.1. [Q96SD1-3 ]
    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_005252615.1. XM_005252558.1. [Q96SD1-2 ]
    XP_006717554.1. XM_006717491.1. [Q96SD1-3 ]
    UniGenei Hs.655932.
    Hs.656065.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3W1B X-ray 2.40 B 485-495 [» ]
    3W1G X-ray 2.55 B 485-495 [» ]
    4HTP X-ray 2.25 C/E 485-495 [» ]
    ProteinModelPortali Q96SD1.
    SMRi Q96SD1. Positions 3-355.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122170. 12 interactions.

    PTM databases

    PhosphoSitei Q96SD1.

    Polymorphism databases

    DMDMi 71153325.

    Proteomic databases

    MaxQBi Q96SD1.
    PaxDbi Q96SD1.
    PRIDEi Q96SD1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    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 ]
    GeneIDi 64421.
    KEGGi hsa:64421.
    UCSCi uc001inl.3. human. [Q96SD1-1 ]
    uc001ino.3. human. [Q96SD1-3 ]
    uc010qbx.2. human. [Q96SD1-4 ]

    Organism-specific databases

    CTDi 64421.
    GeneCardsi GC10M014939.
    HGNCi HGNC:17642. DCLRE1C.
    MIMi 602450. phenotype.
    603554. phenotype.
    605988. gene.
    neXtProti NX_Q96SD1.
    Orphaneti 39041. Omenn syndrome.
    275. Severe combined immunodeficiency due to DCLRE1C deficiency.
    PharmGKBi PA27176.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1236.
    HOVERGENi HBG081421.
    InParanoidi Q96SD1.
    KOi K10887.
    OMAi MFRNMPD.
    OrthoDBi EOG70CR8F.
    PhylomeDBi Q96SD1.
    TreeFami TF329572.

    Miscellaneous databases

    GenomeRNAii 64421.
    NextBioi 66403.
    PROi Q96SD1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96SD1.
    Bgeei Q96SD1.
    Genevestigatori Q96SD1.

    Family and domain databases

    Gene3Di 3.60.15.10. 1 hit.
    InterProi IPR001279. Beta-lactamas-like.
    IPR011084. DRMBL.
    [Graphical view ]
    Pfami PF07522. DRMBL. 1 hit.
    [Graphical view ]
    SMARTi SM00849. Lactamase_B. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56281. SSF56281. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency."
      Moshous D., Callebaut I., de Chasseval R., Corneo B., Cavazzana-Calvo M., le Deist F., Tezcan I., Sanal O., Bertrand Y., Philippe N., Fischer A., de Villartay J.-P.
      Cell 105:177-186(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN RSSCID.
    2. "A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking native Americans."
      Li L., Moshous D., Zhou Y., Wang J., Xie G., Salido E., Hu D., de Villartay J.-P., Cowan M.J.
      J. Immunol. 168:6323-6329(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN SCIDA.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ARG-171.
      Tissue: Embryo.
    4. NIEHS SNPs program
      Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-140; ARG-153; ARG-171; ARG-243; CYS-320 AND MET-329.
    5. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 401-692 (ISOFORMS 1/2/3), VARIANT ARG-243.
      Tissue: Cervix carcinoma, Lung carcinoma and Skeletal muscle.
    8. "Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination."
      Ma Y., Pannicke U., Schwarz K., Lieber M.R.
      Cell 108:781-794(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PRKDC, PHOSPHORYLATION BY PRKDC, MUTAGENESIS OF ASP-165.
    9. "Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family."
      Callebaut I., Moshous D., Mornon J.-P., de Villartay J.-P.
      Nucleic Acids Res. 30:3592-3601(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: DNA REPAIR METALLO-BETA-LACTAMASE FAMILY.
    10. "Functional and biochemical dissection of the structure-specific nuclease ARTEMIS."
      Pannicke U., Ma Y., Hopfner K.-P., Niewolik D., Lieber M.R., Schwarz K.
      EMBO J. 23:1987-1997(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF ASP-17; HIS-33; HIS-35; ASP-37; HIS-38; HIS-115; ASP-136; ASP-165 AND HIS-319, PHOSPHORYLATION BY PRKDC.
    11. Cited for: FUNCTION, MUTAGENESIS OF SER-516; SER-534; SER-538; SER-548; SER-553; SER-561 AND SER-562, PHOSPHORYLATION BY ATM, PHOSPHORYLATION AT SER-645.
    12. "The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination."
      Poinsignon C., Moshous D., Callebaut I., de Chasseval R., Villey I., de Villartay J.-P.
      J. Exp. Med. 199:315-321(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PRKDC, MUTAGENESIS OF ASP-17; HIS-33; HIS-35; ASP-37; HIS-38; HIS-115; ASP-136; ASP-165 AND HIS-319.
    13. "A biochemically defined system for mammalian nonhomologous DNA end joining."
      Ma Y., Lu H., Tippin B., Goodman M.F., Shimazaki N., Koiwai O., Hsieh C.-L., Schwarz K., Lieber M.R.
      Mol. Cell 16:701-713(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PRKDC.
    14. "A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci."
      Riballo E., Kuehne M., Rief N., Doherty A., Smith G.C.M., Recio M.-J., Reis C., Dahm K., Fricke A., Krempler A., Parker A.R., Jackson S.P., Gennery A., Jeggo P.A., Loebrich M.
      Mol. Cell 16:715-724(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH TP53BP1, MUTAGENESIS OF ASP-37, PHOSPHORYLATION BY ATM.
    15. "Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response."
      Zhang X., Succi J., Feng Z., Prithivirajsingh S., Story M.D., Legerski R.J.
      Mol. Cell. Biol. 24:9207-9220(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH ATM; BRCA1; THE MRN COMPLEX AND PRKDC, PHOSPHORYLATION BY ATM; ATR AND PRKDC.
    16. "Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage."
      Chen L., Morio T., Minegishi Y., Nakada S., Nagasawa M., Komatsu K., Chessa L., Villa A., Lecis D., Delia D., Mizutani S.
      Cancer Sci. 96:134-141(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH THE MRN COMPLEX, PHOSPHORYLATION BY ATM, PHOSPHORYLATION AT SER-645.
    17. "Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression."
      Wang J., Pluth J.M., Cooper P.K., Cowan M.J., Chen D.J., Yannone S.M.
      DNA Repair 4:556-570(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, PHOSPHORYLATION BY PRKDC, PHOSPHORYLATION IN RESPONSE TO DNA DAMAGE.
    18. "The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps."
      Ma Y., Schwarz K., Lieber M.R.
      DNA Repair 4:845-851(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PRKDC.
    19. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    20. "Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow."
      Noordzij J.G., Verkaik N.S., van der Burg M., van Veelen L.R., de Bruin-Versteeg S., Wiegant W., Vossen J.M.J.J., Weemaes C.M.R., de Groot R., Zdzienicka M.Z., van Gent D.C., van Dongen J.J.M.
      Blood 101:1446-1452(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RSSCID VAL-118 AND GLU-135.
    21. "Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene."
      Kobayashi N., Agematsu K., Nagumo H., Yasui K., Katsuyama Y., Yoshizawa K., Ota M., Yachie A., Komiyama A.
      Clin. Immunol. 108:159-166(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RSSCID.
    22. "Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families."
      Kobayashi N., Agematsu K., Sugita K., Sako M., Nonoyama S., Yachie A., Kumaki S., Tsuchiya S., Ochs H.D., Sugita K., Fukushima Y., Komiyama A.
      Hum. Genet. 112:348-352(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RSSCID.
    23. "Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis."
      Moshous D., Pannetier C., de Chasseval R., le Deist F., Cavazzana-Calvo M., Romana S., Macintyre E., Canioni D., Brousse N., Fischer A., Casanova J.-L., de Villartay J.-P.
      J. Clin. Invest. 111:381-387(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RSSCID.
    24. Cited for: VARIANT OMENN SYNDROME ASP-35.

    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: October 1, 2014
    This is version 103 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

    External Data

    Dasty 3