• Gene id: 5896

Gene Summary

• Gene Symbol: RAG1   Gene   UCSC   Ensembl
• Aliases: RAG-1, RNF74
• Gene name: recombination activating 1
• Alternate names: V(D)J recombination-activating protein 1, RING finger protein 74, recombination activating gene 1, recombination activating protein 1,
• Gene location: 11p12 (36510365: 36579761)     Exons: 4     NC_000011.10
• Gene summary(Entrez): 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. Defects in this gene can be
• OMIM: 179615

SNPs

rs2227973

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.36575763A>G
NC_000011.10   g.36575763A>T
NC_000011.9   g.36597313A>G
NC_000011.9   g.36597313A>T
NG_007528.1   g.12751A>G
NG_007528.1   g.12751A>T
NM_000448.3   c.2459A>G
NM_000448.3   c.2459A>T
NM_000448.2   c.2459A>G
NM_000448.2   c.2459A>T
NP_000439.  

Protein Summary

• Protein general information: P15918  
  • Name: V(D)J recombination activating protein 1 (RAG 1) (RING finger protein 74) [Includes: Endonuclease RAG1 (EC 3.1. . ); E3 ubiquitin protein ligase RAG1 (EC 2.3.2.27) (RING type E3 ubiquitin transferase RAG1)]
  • Length: 1043  
  • Mass: 119,097
  • Tissue specificity: Expressed at high level in high endothelial venules found in tonsils, Peyer patches and mesenteric lymph nodes. Almost undetectable in placenta. {ECO
• Sequence:

  MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEAQKEKKDSFEGKPSLEQSPAVLDKADGQKPV
  PTQPLLKAHPKFSKKFHDNEKARGKAIHQANLRHLCRICGNSFRADEHNRRYPVHGPVDGKTLGLLRKKEKRATS
  WPDLIAKVFRIDVKADVDSIHPTEFCHNCWSIMHRKFSSAPCEVYFPRNVTMEWHPHTPSCDICNTARRGLKRKS
  LQPNLQLSKKLKTVLDQARQARQHKRRAQARISSKDVMKKIANCSKIHLSTKLLAVDFPEHFVKSISCQICEHIL
  ADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDLESPVKSFLSVLNSLMVKCPAKECNEEVSLEKYNHH
  ISSHKESKEIFVHINKGGRPRQHLLSLTRRAQKHRLRELKLQVKAFADKEEGGDVKSVCMTLFLLALRARNEHRQ
  ADELEAIMQGKGSGLQPAVCLAIRVNTFLSCSQYHKMYRTVKAITGRQIFQPLHALRNAEKVLLPGYHHFEWQPP
  LKNVSSSTDVGIIDGLSGLSSSVDDYPVDTIAKRFRYDSALVSALMDMEEDILEGMRSQDLDDYLNGPFTVVVKE
  SCDGMGDVSEKHGSGPVVPEKAVRFSFTIMKITIAHSSQNVKVFEEAKPNSELCCKPLCLMLADESDHETLTAIL
  SPLIAEREAMKSSELMLELGGILRTFKFIFRGTGYDEKLVREVEGLEASGSVYICTLCDATRLEASQNLVFHSIT
  RSHAENLERYEVWRSNPYHESVEELRDRVKGVSAKPFIETVPSIDALHCDIGNAAEFYKIFQLEIGEVYKNPNAS
  KEERKRWQATLDKHLRKKMNLKPIMRMNGNFARKLMTKETVDAVCELIPSEERHEALRELMDLYLKMKPVWRSSC
  PAKECPESLCQYSFNSQRFAELLSTKFKYRYEGKITNYFHKTLAHVPEIIERDGSIGAWASEGNESGNKLFRRFR
  KMNARQSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMNPQASLGDPLGIEDSLESQDSMEF

• Structural information:
  • Interpro: IPR024627  IPR035714  IPR019485  IPR023336  IPR036236   IPR018957  IPR001841  IPR013083  IPR017907  
  • Prosite: PS51487 PS51765 PS00518 PS50089
  • STRING: ENSP00000299440
• Other Databases: GeneCards:  RAG1  Malacards:  RAG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002250	adaptive immune response	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	ISS	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0004519	endonuclease activity	ISS	molecular function
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006310	DNA recombination	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0008270	zinc ion binding	ISS	molecular function
GO:0010390	histone monoubiquitination	ISS	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0030183	B cell differentiation	ISS	biological process
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0033151	V(D)J recombination	ISS	biological process
GO:0033151	V(D)J recombination	IMP	biological process
GO:0042393	histone binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0043029	T cell homeostasis	IEA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0046872	metal ion binding	ISS	molecular function
GO:0048538	thymus development	IEA	biological process
GO:0051865	protein autoubiquitination	ISS	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0070244	negative regulation of thymocyte apoptotic process	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	ISS	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	ISS	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0006310	DNA recombination	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0010390	histone monoubiquitination	IEA	biological process
GO:0010390	histone monoubiquitination	ISS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0030183	B cell differentiation	IEA	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0033151	V(D)J recombination	IEA	biological process
GO:0033151	V(D)J recombination	IEA	biological process
GO:0033151	V(D)J recombination	ISS	biological process
GO:0033151	V(D)J recombination	IMP	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0042393	histone binding	ISS	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0043029	T cell homeostasis	IEA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	ISS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0048538	thymus development	IEA	biological process
GO:0051865	protein autoubiquitination	IEA	biological process
GO:0051865	protein autoubiquitination	ISS	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0070233	negative regulation of T cell apoptotic process	IEA	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	ISS	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0004519	endonuclease activity	ISS	molecular function
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006310	DNA recombination	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0008270	zinc ion binding	ISS	molecular function
GO:0010390	histone monoubiquitination	ISS	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0033151	V(D)J recombination	ISS	biological process
GO:0033151	V(D)J recombination	IMP	biological process
GO:0042393	histone binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0046872	metal ion binding	ISS	molecular function
GO:0051865	protein autoubiquitination	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04068	FoxO signaling pathway
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Cancer	GAD: 16465622
Cancer (bladder)	GAD: 16465622
Cancer (leukemia)	GAD: 19074885
Cancer (esophageal)	GAD: 20453000
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18830263
Cancer (melanoma)	GAD: 18579371
Cancer (myeloma)	GAD: 20568250
Hodgkin disease	GAD: 19573080
Severe combined immunodeficiencies	KEGG: H01244
Arthritis	GAD: 19898481
Common variable immunodeficiency	KEGG: H00093
Chronic renal failure	GAD: 21085059
Infertility	MIK: 23630330
Male factor infertility	MIK: 23630330
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Impaired infertility	MIK: 23630330
Male infertility	MIK: 23630330
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23630330	Male infertility	RAG1 rs2227973 (A>G, K820R), LIG4 rs1805388	Chinese	1160 (580 infertility cases, 580 controls)	Male infertility	XRCC3 XRCC2 BRCA2 RAG1 XRCC5 LIG4 XRCC4 and ATM
23630330	Male infertility	LIG4 rs1805388 (Ex2+54C>T, Thr9Ile), RAG1 rs2227973 (A>G, K820R)	Chinese	1060 (580 infertility cases, 580 controls)	Male infertility	RAG1 LIG4
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)