HUMAN:RAG1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	RAG1 (synonyms: RNF74)
Protein Name(s)	V(D)J recombination-activating protein 1 RAG-1 RING finger protein 74 Endonuclease RAG1 E3 ubiquitin-protein ligase RAG1
External Links
UniProt	P15918
EMBL	M29474 AY130302 AC061999 AC139427 BC037344
CCDS	CCDS7902.1
PIR	A33754
RefSeq	NP_000439.1 XP_005253098.1
UniGene	Hs.677010 Hs.73958
ProteinModelPortal	P15918
SMR	P15918
BioGrid	111832
IntAct	P15918
MINT	MINT-1511469
STRING	9606.ENSP00000299440
PhosphoSite	P15918
DMDM	313104166
PaxDb	P15918
PRIDE	P15918
Ensembl	ENST00000299440 ENST00000534663
GeneID	5896
KEGG	hsa:5896
UCSC	uc001mwu.4
CTD	5896
GeneCards	GC11P036546
HGNC	HGNC:9831
MIM	179615 233650 601457 603554 609889
neXtProt	NX_P15918
Orphanet	231154 157949 39041 331206
PharmGKB	PA34185
eggNOG	NOG45367
GeneTree	ENSGT00390000008679
HOGENOM	HOG000232009
HOVERGEN	HBG003861
InParanoid	P15918
KO	K10628
OMA	IAKRFRY
PhylomeDB	P15918
TreeFam	TF331926
GenomeRNAi	5896
NextBio	22934
PRO	PR:P15918
Proteomes	UP000005640
Bgee	P15918
CleanEx	HS_RAG1
ExpressionAtlas	P15918
Genevestigator	P15918
GO	GO:0005634 GO:0016881 GO:0003677 GO:0004519 GO:0042393 GO:0046872 GO:0042803 GO:0043565 GO:0004842 GO:0008270 GO:0002250 GO:0030183 GO:0006310 GO:0010390 GO:0006955 GO:0043154 GO:0070244 GO:0090305 GO:0002331 GO:0051865 GO:0045580 GO:0033077 GO:0043029 GO:0048538 GO:0033151
Gene3D	3.30.160.60 3.30.40.10
InterPro	IPR024627 IPR023336 IPR015880 IPR013087 IPR018957 IPR001841 IPR013083 IPR017907 IPR019485
PANTHER	PTHR11539
Pfam	PF12940 PF00097 PF10426
SMART	SM00184 SM00355
PROSITE	PS51487 PS00518 PS50089

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
	GO:0033151	V(D)J recombination	PMID:14670978^[1]	ECO:0000315			P	Fig.1 Mutation in amino acid residues of RAG1 decrease the cleavage activity and formation of nicks and hairpin structures	complete CACAO 4470
involved_in	GO:0033151	V(D)J recombination	PMID:14670978^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0051865	protein autoubiquitination	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	P	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	F	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	F	Seeded From UniProt	complete
enables	GO:0042803	protein homodimerization activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	F	Seeded From UniProt	complete
enables	GO:0042393	histone binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	F	Seeded From UniProt	complete
involved_in	GO:0033151	V(D)J recombination	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	P	Seeded From UniProt	complete
involved_in	GO:0033077	T cell differentiation in thymus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	P	Seeded From UniProt	complete
involved_in	GO:0030183	B cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	P	Seeded From UniProt	complete
involved_in	GO:0010390	histone monoubiquitination	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	P	Seeded From UniProt	complete
enables	GO:0008270	zinc ion binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	C	Seeded From UniProt	complete
enables	GO:0004842	ubiquitin-protein transferase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	F	Seeded From UniProt	complete
enables	GO:0004519	endonuclease activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	F	Seeded From UniProt	complete
involved_in	GO:0002331	pre-B cell allelic exclusion	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15919	P	Seeded From UniProt	complete
involved_in	GO:0090305	nucleic acid phosphodiester bond hydrolysis	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0004519	P	Seeded From UniProt	complete
involved_in	GO:0090305	nucleic acid phosphodiester bond hydrolysis	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0004519	P	Seeded From UniProt	complete
involved_in	GO:0090305	nucleic acid phosphodiester bond hydrolysis	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0004519	P	Seeded From UniProt	complete
involved_in	GO:0090305	nucleic acid phosphodiester bond hydrolysis	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0004519	P	Seeded From UniProt	complete
involved_in	GO:0090305	nucleic acid phosphodiester bond hydrolysis	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0004518	P	Seeded From UniProt	complete
involved_in	GO:2000822	regulation of behavioral fear response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:G3V6K9 ensembl:ENSRNOP00000006115	P	Seeded From UniProt	complete
involved_in	GO:0008542	visual learning	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:G3V6K9 ensembl:ENSRNOP00000006115	P	Seeded From UniProt	complete
involved_in	GO:0070244	negative regulation of thymocyte apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0070233	negative regulation of T cell apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
enables	GO:0061630	ubiquitin protein ligase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
involved_in	GO:0051865	protein autoubiquitination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0048538	thymus development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
involved_in	GO:0045582	positive regulation of T cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0045580	regulation of T cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
involved_in	GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0043029	T cell homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
enables	GO:0042803	protein homodimerization activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
enables	GO:0042393	histone binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
involved_in	GO:0033151	V(D)J recombination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0033077	T cell differentiation in thymus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0030183	B cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0010390	histone monoubiquitination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
enables	GO:0008270	zinc ion binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	C	Seeded From UniProt	complete
enables	GO:0004842	ubiquitin-protein transferase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
enables	GO:0004519	endonuclease activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	F	Seeded From UniProt	complete
involved_in	GO:0002331	pre-B cell allelic exclusion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
involved_in	GO:0002250	adaptive immune response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P15919 ensembl:ENSMUSP00000077584	P	Seeded From UniProt	complete
enables	GO:0004519	endonuclease activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR024627	F	Seeded From UniProt	complete
involved_in	GO:0033151	V(D)J recombination	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR024627	P	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR024627	F	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR018957	F	Seeded From UniProt	complete
enables	GO:0061630	ubiquitin protein ligase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR024627	F	Seeded From UniProt	complete
involved_in	GO:0006955	immune response	PMID:9630231^[2]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006310	DNA recombination	PMID:9630231^[2]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	PMID:9630231^[2]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-5692794	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238	F	Seeded From UniProt	complete
enables	GO:0004519	endonuclease activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0255	F	Seeded From UniProt	complete
involved_in	GO:0006310	DNA recombination	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0233	P	Seeded From UniProt	complete
enables	GO:0004518	nuclease activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0540	F	Seeded From UniProt	complete
involved_in	GO:0008152	metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0511	P	Seeded From UniProt	complete
enables	GO:0016740	transferase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0808	F	Seeded From UniProt	complete
involved_in	GO:0006325	chromatin organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0156	P	Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F	Seeded From UniProt	complete
enables	GO:0003824	catalytic activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0511	F	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Ko, JE et al. (2004) Amino acid residues in RAG1 responsible for the interaction with RAG2 during the V(D)J recombination process. J. Biol. Chem. 279 7715-20 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Villa, A et al. (1998) Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93 885-96 PubMed GONUTS page

[PMID:14670978-1] 1.0 ^1.1 Ko, JE et al. (2004) Amino acid residues in RAG1 responsible for the interaction with RAG2 during the V(D)J recombination process. J. Biol. Chem. 279 7715-20 PubMed GONUTS page

[PMID:9630231-2] 2.0 ^2.1 ^2.2 Villa, A et al. (1998) Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93 885-96 PubMed GONUTS page

[1]

[2]

HUMAN:RAG1

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