RAG1

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RAG1
Identifiers
Aliases RAG1, RAG-1, RNF74, recombination activating gene 1, recombination activating 1
External IDs MGI: 97848 HomoloGene: 387 GeneCards: RAG1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000448

NM_009019

RefSeq (protein)

NP_000439

NP_033045.2
NP_033045

Location (UCSC) Chr 11: 36.51 – 36.59 Mb Chr 2: 101.64 – 101.65 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Recombination activating gene 1 also known as RAG-1 is a protein that in humans is encoded by the RAG1 gene.[3]

The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. The RAG-1/2 complex recognizes the Recombination Signal Sequence (RSS) that flank the V, D and J regions in the gene that codes for the constant region of both the heavy chain and light chain in an antibody. The complex binds to the Recombination Signal Sequences and nicks the DNA. This leads to the removal of the RSS and the eventual binding of the V D and J sequences.[4] Defects in this gene can be the cause of several diseases.[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: Recombination activating gene 1". 
  4. ^ Owen J, Punt J, Stranford S, Jones P (2013). Kuby Immunology. New York: W. H. Freeman and Company. pp. 234–237. ISBN 978-14292-1919-8.