RAG1 (recombination activating 1)

Gene Basic Information

Gene Basic Information

symbol
RAG1
locus group
protein-coding gene
location
11p12
gene_family
Ring finger proteins
alias symbol
RNF74|MGC43321
alias name
recombination activating protein 1…
entrez id
5896
ensembl gene id
ENSG00000166349
ucsc gene id
uc001mwu.5
refseq accession
NM_000448
hgnc_id
HGNC:9831
approved reserved
1990-06-18

Chromosome Location

Chromosome Location

11p12

Gene Summary

Gene Summary

ChineseEnglish

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 the cause of several diseases. [provided by RefSeq, Jul 2008]

OMIM entry for RAG1     Wikipedia entry for RAG1

Gene Sequence

Gene Sequence

Nucleotide sequence of RAG1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAASFPPTLG LSSAPDEIQH PHIKFSEWKF KLFRVRSFEK
41TPEEAQKEKK DSFEGKPSLE QSPAVLDKAD GQKPVPTQPL
81 LKAHPKFSK KFHDNEKARG KAIHQANLRH LCRICGNSFR
121ADEHNRRYPV HGPVDGKTLG LLRKKEKRAT SWPDLIAKVF
161R IDVKADVD SIHPTEFCHN CWSIMHRKFS SAPCEVYFPR
201NVTMEWHPHT PSCDICNTAR RGLKRKSLQP NLQLSKKLKT
241VL DQARQAR QHKRRAQARI SSKDVMKKIA NCSKIHLSTK
281LLAVDFPEHF VKSISCQICE HILADPVETN CKHVFCRVCI
321LRC LKVMGS YCPSCRYPCF PTDLESPVKS FLSVLNSLMV
361KCPAKECNEE VSLEKYNHHI SSHKESKEIF VHINKGGRPR
401QHLL SLTRR AQKHRLRELK LQVKAFADKE EGGDVKSVCM
441TLFLLALRAR NEHRQADELE AIMQGKGSGL QPAVCLAIRV
481NTFLS CSQY HKMYRTVKAI TGRQIFQPLH ALRNAEKVLL
521PGYHHFEWQP PLKNVSSSTD VGIIDGLSGL SSSVDDYPVD
561TIAKRF RYD SALVSALMDM EEDILEGMRS QDLDDYLNGP
601FTVVVKESCD GMGDVSEKHG SGPVVPEKAV RFSFTIMKIT
641IAHSSQN VK VFEEAKPNSE LCCKPLCLML ADESDHETLT
681AILSPLIAER EAMKSSELML ELGGILRTFK FIFRGTGYDE
721KLVREVEG L EASGSVYICT LCDATRLEAS QNLVFHSITR
761SHAENLERYE VWRSNPYHES VEELRDRVKG VSAKPFIETV
801PSIDALHCD IGNAAEFYKI FQLEIGEVYK NPNASKEERK
841RWQATLDKHL RKKMNLKPIM RMNGNFARKL MTKETVDAVC
881ELIPSEERHE ALRELMDLY LKMKPVWRSS CPAKECPESL
921CQYSFNSQRF AELLSTKFKY RYEGKITNYF HKTLAHVPEI
961IERDGSIGAW A SEGNESGN KLFRRFRKMN ARQSKCYEME
1001DVLKHHWLYT SKYLQKFMNA HNALKTSGFT MNPQASLGDP
1041LGIEDSLESQ DS MEF
Structure predicted by AlphaFold DB(UniProt: P15918). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of RAG1:           Showing partial SNPs
rs331440       rs331441       rs331442       rs331443       rs331444       rs331449       rs331450       rs331451       rs331452       rs331453       rs331454       rs331455       rs331456       rs550292       rs748974       rs872052       rs872053      

Gene Expression

Gene Expression

Tissue expression of RAG1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
ATCTCAACACTTTGGCCAG
58
CAGAACTGAGTCCCAAGGT
59
AAATCCAGGTACCTCAGCC
59
GGGTGCTGAATTTCATCTGG
59
ATGCGTATGTATCCTGAAGC
58
AGATTGCACTCCTGAATCAC
58
CATGCGTATGTATCCTGAAGC
59
ATTGCACTCCTGAATCACAC
59
CATCTCAACACTTTGGCCAG
60
AGAACTGAGTCCCAAGGTG
59
TAAATCCAGGTACCTCAGCC
59
GGTGCTGAATTTCATCTGGG
59
TGCGTATGTATCCTGAAGC
57
AGATTGCACTCCTGAATCAC
58
ATCTCAACACTTTGGCCAG
58
AGAACTGAGTCCCAAGGTG
59
AAATCCAGGTACCTCAGCC
59
GGTGCTGAATTTCATCTGGG
59

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
FOXO1
RAG1
Unknown
21655267
FOXP1
RAG1
Unknown
21655267
TCF3
RAG1
Unknown
21655267

Gene Ontology

Subcellular localization of RAG1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for RAG1:

GO ID
Protein
Source DB
GO:0002250
P15918 (UniProtKB)
IEA
GO:0002331
P15918 (UniProtKB)
ISS
GO:0003677
P15918 (UniProtKB)
TAS
GO:0004519
P15918 (UniProtKB)
ISS
GO:0004842
P15918 (UniProtKB)
ISS
GO:0005515
P15918 (UniProtKB)
IPI
GO:0005634
P15918 (UniProtKB)
ISS
GO:0005654
P15918 (UniProtKB)
TAS
GO:0006310
P15918 (UniProtKB)
TAS
GO:0006955
P15918 (UniProtKB)
TAS
GO:0008270
P15918 (UniProtKB)
ISS
GO:0010390
P15918 (UniProtKB)
ISS
GO:0016874
P15918 (UniProtKB)
IEA
GO:0030183
P15918 (UniProtKB)
ISS
GO:0033077
P15918 (UniProtKB)
ISS
GO:0033151
P15918 (UniProtKB)
ISS
GO:0033151
P15918 (UniProtKB)
IMP
GO:0042393
P15918 (UniProtKB)
ISS
GO:0042803
P15918 (UniProtKB)
ISS
GO:0043029
P15918 (UniProtKB)
IEA
GO:0043154
P15918 (UniProtKB)
IEA
GO:0043565
P15918 (UniProtKB)
ISS
GO:0045582
P15918 (UniProtKB)
IEA
GO:0046872
P15918 (UniProtKB)
ISS
GO:0048538
P15918 (UniProtKB)
IEA
GO:0051865
P15918 (UniProtKB)
ISS
GO:0061630
P15918 (UniProtKB)
IEA
GO:0070244
P15918 (UniProtKB)
IEA
GO:0090305
P15918 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating RAG1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Combined Cellular And Humoral Immune Defects With Granulomas 0.48 2 6 CLINVAR_CTD_human_ORPHANET_UNIPROT
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 0.48 1 2 CLINVAR_CTD_human_ORPHANET_UNIPROT
Omenn Syndrome 0.24 7 24 ORPHANET_UNIPROT
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 0.24 0 0 CTD_human_ORPHANET
Severe Combined Immunodeficiency 0.145684746 31 3 BeFree_CLINVAR_GAD_LHGDN
Histiocytic medullary reticulosis (disorder) 0.126514605 24 9 BeFree_CLINVAR
Reticuloendotheliosis, familial, with eosinophilia 0.12 0 0 CTD_human
Immunologic Deficiency Syndromes 0.00643866 16 0 BeFree_GAD
Lymphoma, Non-Hodgkin 0.004734064 2 0 GAD
Malignant neoplasm of urinary bladder 0.004734064 2 0 GAD

Related Publications

Related Publications

Atypical presentation of RAG1-associated SCID: diagnostic challenges beyond infections and lymphocyte count.
Brillant-Marquis F, Tibout P, Thibeault R, Fernandez I, Cellot S, Cayouette F, Marois L Haematologica IF: 8.2 2026-05-28
IL15/IL15Rα Complex Induces an Antitumor Immune Response following Radiotherapy only in the Absence of Tregs and Fails to Expand Progenitor TCF1+ CD8 T Cells.
Piper M, Hodgson CA, Gadwa J, Hoen M, Knitz MW, Yu J, Corbo S, Olimpo NA, Yee EJ, Zhu Y, Larson KY, Klein C, Amann M, Saviola AJ, Karam SD Mol Cancer Ther IF: 6.9 2026-01-02
Western Diet Dampens T Regulatory Cell Function to Fuel Hepatic Inflammation in Metabolic Dysfunction-Associated Steatotic Liver Disease.
Chaudhary S, Rai R, Pal PB, Tedesco D, Rossmiller D, Gupta B, Singhi AD, Monga SP, Grakoui A, Iyer SS, Raeman R Cells 2026-01-16
Peptide-adaptive NK cell memory in the absence of functional TCR genes.
Bryan S, Gamage GS, Dey S, Medina-Luna D, Parsons BD, Makrigiannis AP Immunohorizons 2026-01-06
Borrelia miyamotoi infection negatively impacts pregnancy outcomes in immunodeficient mice.
Belperron AA, Mao J, Booth CJ, Bockenstedt LK Front Immunol IF: 7.0 None
Gut segmented filamentous Bacteria impedes growth of B16F10 subcutaneous tumors via modulating T cell function.
Abo H, Kim SG, Ngo VL, Kuczma MP, Gewirtz AT Mucosal Immunol IF: 5.5 2026-07-10
Microglia replacement by peripheral delivery of CSF1R inhibitor-resistant hematopoietic cells.
Lombroso SI, Church EI, Anderson RN, O'Brien CA, Zhu Y, Dar AA, Purnell FS, Levitt EM, Temsamrit B, Yaqoob F, Aisenberg WH, Davis M, Elfayoumi B, Chaluvadi S, Nemec KM, Axsom J, Shapiro DA, Oon CH, Chadarevian JP, Assenmacher CA, De Arcangeli S, Banerjee E, Shukla S, Davtyan H, Bailis W, Hunter CA, Blurton-Jones M, Bennett ML, Haney MS, Bennett FC Mol Ther IF: 11.4 2026-02-04
Analysis of the Epigenetic State of the Dm Element within the Igκ Locus in Pre-B Cells.
Wu C, Dong Y, Zhou W, Wang Y, Wang X, Zhao Z, Ji Y Immunol Invest IF: 2.3 2026-01-00
Spontaneous clinical and anatomical pathology findings in SDRG rats.
Bertani V, Minoli L, de Battisti A, Cantachin A, Turrini G, Forcellini G, Bazzoni R, Slaviero A, Abbas L, Guionaud S, Pellegrini G, Marchesi F Vet Pathol IF: 2.3 2026-05-00

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