Details for: RAG1

Gene ID: 5896

Symbol: RAG1

Ensembl ID: ENSG00000166349

Description: recombination activating 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 25.5231
    Cell Significance Index: -3.9700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 15.5336
    Cell Significance Index: -3.9400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.2442
    Cell Significance Index: -4.0000
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 2.5414
    Cell Significance Index: 22.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.4334
    Cell Significance Index: -3.8400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8440
    Cell Significance Index: 160.6300
  • Cell Name: pre-B-I cell (CL0000956)
    Fold Change: 0.5599
    Cell Significance Index: 2.6300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3627
    Cell Significance Index: 35.8800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3293
    Cell Significance Index: 297.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2317
    Cell Significance Index: 25.2100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2295
    Cell Significance Index: 6.1500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2185
    Cell Significance Index: 13.1200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2061
    Cell Significance Index: 33.5200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1747
    Cell Significance Index: 11.2700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1611
    Cell Significance Index: 3.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1333
    Cell Significance Index: 6.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1295
    Cell Significance Index: 3.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1267
    Cell Significance Index: 8.7700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.1019
    Cell Significance Index: 29.3300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0971
    Cell Significance Index: 1.3800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0926
    Cell Significance Index: 1.9200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0796
    Cell Significance Index: 5.0200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0782
    Cell Significance Index: 15.6800
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.0741
    Cell Significance Index: 0.5700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0604
    Cell Significance Index: 0.6300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0551
    Cell Significance Index: 19.7600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0549
    Cell Significance Index: 1.1700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0507
    Cell Significance Index: 1.3800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0304
    Cell Significance Index: 3.1100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0281
    Cell Significance Index: 0.9000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0241
    Cell Significance Index: 3.5100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0180
    Cell Significance Index: 0.4500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0152
    Cell Significance Index: 0.7900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0120
    Cell Significance Index: 0.9200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0081
    Cell Significance Index: 0.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0078
    Cell Significance Index: 0.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0063
    Cell Significance Index: 0.2200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0053
    Cell Significance Index: 0.9600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0037
    Cell Significance Index: 1.6400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0021
    Cell Significance Index: 0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0008
    Cell Significance Index: 1.4600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0003
    Cell Significance Index: 0.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0002
    Cell Significance Index: 0.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0009
    Cell Significance Index: -1.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0014
    Cell Significance Index: -0.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0023
    Cell Significance Index: -3.1400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0028
    Cell Significance Index: -1.5200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0032
    Cell Significance Index: -2.0300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0035
    Cell Significance Index: -2.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0050
    Cell Significance Index: -3.8000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0051
    Cell Significance Index: -0.6600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0055
    Cell Significance Index: -3.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0058
    Cell Significance Index: -4.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0071
    Cell Significance Index: -3.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0093
    Cell Significance Index: -1.1400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0119
    Cell Significance Index: -0.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0142
    Cell Significance Index: -2.4300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0146
    Cell Significance Index: -1.8800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0147
    Cell Significance Index: -0.4100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0182
    Cell Significance Index: -2.0800
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: -0.0217
    Cell Significance Index: -0.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0219
    Cell Significance Index: -4.6200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0226
    Cell Significance Index: -1.5200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0237
    Cell Significance Index: -3.2600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0242
    Cell Significance Index: -0.5300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0269
    Cell Significance Index: -1.3600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0314
    Cell Significance Index: -0.8400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0371
    Cell Significance Index: -3.8600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0416
    Cell Significance Index: -4.9100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0448
    Cell Significance Index: -3.5500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0449
    Cell Significance Index: -2.7600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0464
    Cell Significance Index: -3.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0555
    Cell Significance Index: -2.6100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0556
    Cell Significance Index: -2.2800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0571
    Cell Significance Index: -2.4800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0607
    Cell Significance Index: -1.5600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0615
    Cell Significance Index: -1.2000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0622
    Cell Significance Index: -1.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0634
    Cell Significance Index: -3.5600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0671
    Cell Significance Index: -2.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0678
    Cell Significance Index: -3.0000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0688
    Cell Significance Index: -1.4600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0709
    Cell Significance Index: -3.7200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0771
    Cell Significance Index: -2.4600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0790
    Cell Significance Index: -2.9900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0791
    Cell Significance Index: -2.5900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0804
    Cell Significance Index: -1.2900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0818
    Cell Significance Index: -2.0400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0862
    Cell Significance Index: -1.8100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0882
    Cell Significance Index: -1.4000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0883
    Cell Significance Index: -3.0700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0892
    Cell Significance Index: -1.5000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0908
    Cell Significance Index: -2.2700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0929
    Cell Significance Index: -1.4000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0953
    Cell Significance Index: -2.7200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0991
    Cell Significance Index: -1.4300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1074
    Cell Significance Index: -1.2200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1077
    Cell Significance Index: -1.5900
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.1092
    Cell Significance Index: -1.0800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1095
    Cell Significance Index: -3.1400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** RAG1 is a 34-kilodalton protein that belongs to the RAG family of endonucleases. It is composed of two domains: a C-terminal domain that interacts with RAG2, and an N-terminal domain that contains the catalytic site. RAG1 is highly expressed in cells of the immune system, including double-positive thymocytes, late pro-B cells, and early lymphoid progenitors. It is also expressed in neural progenitor cells and certain types of epithelial cells. The protein exhibits a high degree of sequence homology with RAG2, suggesting a cooperative mechanism of action. **Pathways and Functions:** RAG1 is involved in several key pathways that are essential for immune system development and function: 1. **V(D)J Recombination:** RAG1, in conjunction with RAG2, facilitates the recombination of V, D, and J gene segments during B-cell and T-cell development. This process generates a diverse repertoire of antibodies and T-cell receptors. 2. **Chromatin Organization:** RAG1 has been shown to play a role in chromatin organization and structure, particularly in the context of immune system development. 3. **DNA Repair:** RAG1 has been implicated in the repair of DNA double-strand breaks, which is essential for maintaining genome stability. 4. **Signaling Pathways:** RAG1 has been shown to interact with various signaling molecules, including transcription factors and kinases, to regulate immune system development and function. 5. **Cell Cycle Regulation:** RAG1 has been implicated in the regulation of cell cycle progression, particularly in the context of immune system development. **Clinical Significance:** Dysregulation of RAG1 has been implicated in various immune-related disorders, including: 1. **Immunodeficiency Diseases:** Defects in RAG1 have been associated with severe immunodeficiency syndromes, including combined immunodeficiency and severe combined immunodeficiency. 2. **Cancer:** RAG1 has been implicated in the development of certain types of cancer, including leukemia and lymphoma. 3. **Autoimmune Diseases:** Dysregulation of RAG1 has been implicated in the development of autoimmune diseases, including rheumatoid arthritis and multiple sclerosis. 4. **Immunotherapy:** RAG1 has been explored as a target for immunotherapy, particularly in the context of cancer treatment. In conclusion, RAG1 is a critical gene that plays a central role in the development and function of the adaptive immune system. Its dysregulation has been implicated in various immune-related disorders, and it remains an important target for the development of novel immunotherapies.

Genular Protein ID: 2151630097

Symbol: RAG1_HUMAN

Name: V(D)J recombination-activating protein 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2598259

Title: The V(D)J recombination activating gene, RAG-1.

PubMed ID: 2598259

DOI: 10.1016/0092-8674(89)90760-5

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8052633

Title: RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1.

PubMed ID: 8052633

DOI: 10.1073/pnas.91.16.7633

PubMed ID: 8844221

Title: Two new variants of RAG-1 protein predicted by SSCP.

PubMed ID: 8844221

DOI: 10.1002/(sici)1098-1004(1996)8:2<191::aid-humu15>3.0.co;2-y

PubMed ID: 8810255

Title: RAG mutations in human B cell-negative SCID.

PubMed ID: 8810255

DOI: 10.1126/science.274.5284.97

PubMed ID: 9630231

Title: Partial V(D)J recombination activity leads to Omenn syndrome.

PubMed ID: 9630231

DOI: 10.1016/s0092-8674(00)81448-8

PubMed ID: 10606976

Title: Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

PubMed ID: 10606976

DOI: 10.1046/j.1365-2249.2000.01101.x

PubMed ID: 11133745

Title: V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

PubMed ID: 11133745

DOI: 10.1182/blood.v97.1.81

PubMed ID: 11520796

Title: Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency.

PubMed ID: 11520796

DOI: 10.1182/blood.v98.5.1464

PubMed ID: 16276422

Title: A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

PubMed ID: 16276422

DOI: 10.1172/jci25178

PubMed ID: 18463379

Title: An immunodeficiency disease with RAG mutations and granulomas.

PubMed ID: 18463379

DOI: 10.1056/nejmoa073966

PubMed ID: 19912631

Title: Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PubMed ID: 19912631

DOI: 10.1186/1471-2350-10-116

PubMed ID: 20956421

Title: Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

PubMed ID: 20956421

DOI: 10.1542/peds.2009-3171

PubMed ID: 21624848

Title: Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PubMed ID: 21624848

DOI: 10.1016/j.clim.2011.04.011

PubMed ID: 21771083

Title: Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PubMed ID: 21771083

DOI: 10.1111/j.1399-3038.2010.01126.x

PubMed ID: 24996264

Title: A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

PubMed ID: 24996264

DOI: 10.1016/j.jaci.2014.04.042

PubMed ID: 25516070

Title: Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

PubMed ID: 25516070

DOI: 10.1007/s10875-014-0121-5

PubMed ID: 28216420

Title: Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.

PubMed ID: 28216420

DOI: 10.1016/j.clim.2016.12.013

Sequence Information:

  • Length: 1043
  • Mass: 119097
  • Checksum: 5417A7413DA8CB65
  • Sequence:
  • MAASFPPTLG LSSAPDEIQH PHIKFSEWKF KLFRVRSFEK TPEEAQKEKK DSFEGKPSLE 
    QSPAVLDKAD GQKPVPTQPL LKAHPKFSKK FHDNEKARGK AIHQANLRHL CRICGNSFRA 
    DEHNRRYPVH GPVDGKTLGL LRKKEKRATS WPDLIAKVFR IDVKADVDSI HPTEFCHNCW 
    SIMHRKFSSA PCEVYFPRNV TMEWHPHTPS CDICNTARRG LKRKSLQPNL QLSKKLKTVL 
    DQARQARQHK RRAQARISSK DVMKKIANCS KIHLSTKLLA VDFPEHFVKS ISCQICEHIL 
    ADPVETNCKH VFCRVCILRC LKVMGSYCPS CRYPCFPTDL ESPVKSFLSV LNSLMVKCPA 
    KECNEEVSLE KYNHHISSHK ESKEIFVHIN KGGRPRQHLL SLTRRAQKHR LRELKLQVKA 
    FADKEEGGDV KSVCMTLFLL ALRARNEHRQ ADELEAIMQG KGSGLQPAVC LAIRVNTFLS 
    CSQYHKMYRT VKAITGRQIF QPLHALRNAE KVLLPGYHHF EWQPPLKNVS SSTDVGIIDG 
    LSGLSSSVDD YPVDTIAKRF RYDSALVSAL MDMEEDILEG MRSQDLDDYL NGPFTVVVKE 
    SCDGMGDVSE KHGSGPVVPE KAVRFSFTIM KITIAHSSQN VKVFEEAKPN SELCCKPLCL 
    MLADESDHET LTAILSPLIA EREAMKSSEL MLELGGILRT FKFIFRGTGY DEKLVREVEG 
    LEASGSVYIC TLCDATRLEA SQNLVFHSIT RSHAENLERY EVWRSNPYHE SVEELRDRVK 
    GVSAKPFIET VPSIDALHCD IGNAAEFYKI FQLEIGEVYK NPNASKEERK RWQATLDKHL 
    RKKMNLKPIM RMNGNFARKL MTKETVDAVC ELIPSEERHE ALRELMDLYL KMKPVWRSSC 
    PAKECPESLC QYSFNSQRFA ELLSTKFKYR YEGKITNYFH KTLAHVPEII ERDGSIGAWA 
    SEGNESGNKL FRRFRKMNAR QSKCYEMEDV LKHHWLYTSK YLQKFMNAHN ALKTSGFTMN 
    PQASLGDPLG IEDSLESQDS MEF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.