DCLRE1C Proteine (DCLRE1C)

Bezeichnung:
DNA Cross-Link Repair 1C Proteine (DCLRE1C)
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Synonyme:
9930121L06Rik, A-SCID, AI661365, Art, artemis, DCLREC1C, hSNM1C, nuclease, RS-SCID, SCIDA, SNM1C, Snm1l
alle Proteine anzeigen Gen GeneID UniProt
DCLRE1C 64421 Q96SD1
DCLRE1C 259171 Q5XIX3
DCLRE1C 227525 Q8K4J0

Weitere Synonyme anzeigen

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Weitere Proteine zu DCLRE1C Interaktionspartnern

Human DNA Cross-Link Repair 1C (DCLRE1C) Interaktionspartner

  1. An N-terminal fragment comprising the catalytic domain can interact both with itself and with a C-terminal fragment. Amino acid exchanges N456A+S457A+E458Q in the C terminus of full-length SCIDA resulted in unmasking of the N terminus and in increased SCIDA activity in cellular V(D)J recombination assays.

  2. Data demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency.

  3. DCLRE1C and NCF1 (zeige NCF1 Proteine) mutations have been found by whole-genome sequencing to cause primary immunodeficiency in unrelated patients.

  4. the nature and location of mutations correlate with the clinical phenotype of severe combined immunodeficiency (zeige PRKDC Proteine)

  5. uncovered a nuclease, Artemis, as a PTIP (zeige PAXIP1 Proteine)-binding protein

  6. the 5'-exonuclease (zeige EXO1 Proteine) is intrinsic to ARTEMIS, making it relevant to the role of ARTEMIS in nonhomologous DNA end joining

  7. DNA ligase IV (zeige LIG4 Proteine) and Artemis act cooperatively to promote nonhomologous end-joining

  8. 2 siblings are described with combined immunodeficiency (CID (zeige CENPA Proteine)) and immunodysregulation caused by compound heterozygous Artemis mutations.

  9. Artemis levels significantly influence radiation toxicity in human cells

  10. Our findings indicate a novel function of Artemis as a molecular switch that converts stalled replication forks harboring single-stranded gap DNA lesions into double-strand breaks, thereby activating the ATM (zeige ATM Proteine) signaling pathway

Mouse (Murine) DNA Cross-Link Repair 1C (DCLRE1C) Interaktionspartner

  1. ATM (zeige ATM Proteine) phosphorylates DNA-PKcs (zeige PRKDC Proteine) to recruit Artemis and promote end-processing.

  2. we present T(-)B(-)NK(+) severe combined immunodeficiency (SCID (zeige PRKDC Proteine)) phenotype after spontaneously occurring modification of Artemis gene in mice.

  3. deficient mice have a phenotype similar to that of DNA-PKcs (zeige PRKDC Proteine)-deficient mice-including severe combined immunodeficiency (zeige PRKDC Proteine) associated with defects in opening and joining V(D)J coding hairpin ends and increased cellular ionizing radiation sensitivity (artemis)

  4. Data show that Artemis appears to be required for a subset of nonhomologous DNA end joining reactions that require end processing [Artemis].

  5. Artemis/p53 (zeige TP53 Proteine)-deficient mouse tumors lacked der(12 (zeige SLC29A2 Proteine))t(12;15) translocations and c-myc (zeige MYC Proteine) amplification.

  6. V(D)J and DNA repair defects seen in this Artemis-deficient mouse model are direct evidence that defective Artemis is the pathologic mechanism for the immunodeficiency phenotype of SCID (zeige PRKDC Proteine) in Athabascan-speaking Native Americans.

  7. DNA-PK has Artemis-independent functions in class switch recombination and normal development

  8. Since Art deficient mice represent a model for radiation-sensitive severe combined immunodeficiency (zeige PRKDC Proteine), we suggest that these patients may be at risk for both lymphoid and non-lymphoid cancers.

  9. DNA-PKcs (zeige PRKDC Proteine) and Artemis open AAV inverted terminal repeat (ITR (zeige GPR180 Proteine)) hairpin loops in a tissue-dependent manner.

  10. both DNA-PKcs (zeige PRKDC Proteine) and, unexpectedly, Artemis are necessary for joining a subset of activation-induced cytidine deaminase (zeige AICDA Proteine) (AID)-dependent DNA double-strand breaks

DCLRE1C Protein Überblick

Protein Überblick

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity\; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA).

Alternative names and synonyms associated with DCLRE1C

  • DNA cross-link repair 1C (DCLRE1C)
  • DNA cross-link repair 1C (Dclre1c)
  • DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae) (Dclre1c)
  • 9930121L06Rik Protein
  • A-SCID Protein
  • AI661365 Protein
  • Art Protein
  • artemis Protein
  • DCLREC1C Protein
  • hSNM1C Protein
  • nuclease Protein
  • RS-SCID Protein
  • SCIDA Protein
  • SNM1C Protein
  • Snm1l Protein

Bezeichner auf Proteinebene für DCLRE1C

DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) , artemis protein , protein artemis , DNA cross-link repair 1C , protein artemis-like , DNA cross-link repair 1C protein , PSO2 homolog , SNM1 homolog C , SNM1-like protein , severe combined immunodeficiency, type a (Athabascan) , chSNM1C , Artemis protein , DNA cross-link repair 1A, PSO2 homolog , artemis , mArt

GENE ID SPEZIES
697493 Macaca mulatta
100056337 Equus caballus
100085149 Ornithorhynchus anatinus
100469797 Ailuropoda melanoleuca
100579542 Nomascus leucogenys
64421 Homo sapiens
517886 Bos taurus
259171 Rattus norvegicus
487123 Canis lupus familiaris
430764 Gallus gallus
100173437 Pongo abelii
227525 Mus musculus
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