RAG1

RAG1
Identifiers
Aliases	RAG1, RAG-1, RNF74, recombination activating gene 1, recombination activating 1
External IDs	MGI: 97848 HomoloGene: 387 GeneCards: RAG1
Gene location (Human)
Chr.	Chromosome 11 (human)[1]
End	36,593,156 bp[1]
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)[2]
End	101,649,501 bp[2]
Gene ontology
Molecular function	• DNA binding; • sequence-specific DNA binding; • protein homodimerization activity; • ubiquitin protein ligase activity; • histone binding; • zinc ion binding; • metal ion binding; • ubiquitin-protein transferase activity; • protein binding; • catalytic activity; • nuclease activity; • endonuclease activity; • hydrolase activity; • transferase activity; • identical protein binding;
Cellular component	• nucleoplasm; • cell nucleus;
Biological process	• positive regulation of T cell differentiation; • histone monoubiquitination; • DNA recombination; • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; • adaptive immune response; • T cell differentiation in thymus; • nucleic acid phosphodiester bond hydrolysis; • thymus development; • negative regulation of thymocyte apoptotic process; • T cell homeostasis; • negative regulation of T cell apoptotic process; • immune response; • V(D)J recombination; • pre-B cell allelic exclusion; • B cell differentiation; • metabolism; • regulation of T cell differentiation; • protein autoubiquitination; • visual learning; • regulation of behavioral fear response; • chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	5896
	19373
	ENSG00000166349
	ENSMUSG00000061311
	P15918
	P15919
	NM_000448
	NM_009019
	NP_000439
	NP_033045
	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.^[5]

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.^[6] Defects in this gene can be the cause of several diseases.^[5]

Because of these effects, Rag1 deletion is used in mouse models of disease to impair [T cell] and [B cell] maturation, and functionally deletes mature T and B cells from the immune system.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000166349 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000061311 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
1 2 "Entrez Gene: Recombination activating gene 1".
↑ 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.
↑ "B6.129S7-Rag1tm1Mom/J Mouse Strain Details". Jackson Laboratories.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000166349 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000061311 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[entrez-5] 1 2 "Entrez Gene: Recombination activating gene 1".

[6] 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.

[7] "B6.129S7-Rag1tm1Mom/J Mouse Strain Details". Jackson Laboratories.