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FLASH GENE

Symbol

RAG1

contributors: mct/npt - updated : 27-01-2010

HGNC name	recombination activating gene 1
HGNC id	9831

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CCHIG combined cellular and humoral immune defect and multiple granulomas SCIDBL severe combined immunodeficiency, T cell-negative, B cell-negative, NK cell-positive SCIDO Omenn syndrome
Location	11p12      Physical location : 36.589.562 - 36.601.308
Synonym name	truncated recombination activating gene 1
	RING finger protein 74
	V(D)J recombination-activating protein 1
Synonym symbol(s)	RNF74, MGC43321, RAG-1

DNA

TYPE	functioning gene
STRUCTURE	11.75 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

located 8kb apart from RAG2, convergently oriented

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000448 2 - 6582 NP_000439 - 1043 - Kumar (2009)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune tonsils

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid lymphoid nodule germinal center

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell Lymphoid/Immune T cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal ring finger and two zinc finger domains
	nuclear localization signal (NLS)
	an alpha helix domain
	a core domain and acidic domain
	one NBD domain
	C-terminus facilitates hairpin formation on long DNA substrates (Kumar 2009)

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to murine Rag1 (90.2pc)
	homolog to rattus Rag1 (90.5pc)

Homologene

FAMILY

CATEGORY

immunity/defense , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus
text	localized in the epithelial layer and absent in the lamina propria of intestine (Lynch 1995)

basic FUNCTION	lymphoid specific V(D)J recombination acting at a pair of recombination signal sequences and making double strand breaks, next to these signals
	required to assemble mature Ag receptor genes in developing lymphocytes (Simkus 2007)
	catalyze V(D)J recombination and is essential for generation of the diverse repertoire of antigen receptor genes and effective immune responses
	may have ubiquitin ligase activity (Simkus 2009)
	involved in recognition of DNA substrate but stable binding and cleavage activity also requires RAG2
	promotes hairpin retention in the postcleavage RAG complex (Kumar 2009)
	required for the rearrangement of antigen receptor genes (Kuo 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	heterodimerizing with RAG2
	essential component of the RAG1/2 V(D)J recombinase, which mediates antigen-receptor gene assembly-contains a plant homeodomain (PHD) finger that specifically recognizes histone H3 trimethylated at lysine 4 (H3K4me3) (Matthews 2007)

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	binding one magnesium or manganese ion per subunit

protein	interacting with KPNA2, GMEB1, SF3A2 (Maitra 2009)
	binding KPNA1 and putatively ubiquitylates it (Simkus 2009)

cell & other

REGULATION

activated by

IL6 in circulating B cells (Hillion 2007)

inhibited by

activation of Abl and Erk kinases in T cells, leading to the transcriptional inactivation of RAG1 and RAG2 (Kuo 2009)

Other

auto-ubiquitylation depends on CDC34 (Simkus 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

SCIDO , SCIDBL , CCHIG

related resource

RAG1base: Mutation registry for autosomal recessive RAG1 immunodeficiency

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS