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Protein

V(D)J recombination-activating protein 1

Gene

RAG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as an E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1 (By similarity).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.27

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity, Mn2+By similarityNote: Binds 1 divalent metal cation per subunit. Mg2+ or Mn2+.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi269Zinc 1By similarity1
Metal bindingi273Zinc 1By similarity1
Metal bindingi293Zinc 2By similarity1
Metal bindingi296Zinc 1By similarity1
Metal bindingi296Zinc 2By similarity1
Metal bindingi298Zinc 1By similarity1
Metal bindingi308Zinc 3By similarity1
Metal bindingi310Zinc 3By similarity1
Metal bindingi313Zinc 2By similarity1
Metal bindingi316Zinc 2By similarity1
Metal bindingi328Zinc 3By similarity1
Metal bindingi331Zinc 3By similarity1
Metal bindingi358Zinc 4By similarity1
Metal bindingi363Zinc 4By similarity1
Metal bindingi375Zinc 4By similarity1
Metal bindingi379Zinc 4By similarity1
Metal bindingi603Divalent metal cation; catalyticBy similarity1
Metal bindingi711Divalent metal cation; catalyticBy similarity1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei896Essential for DNA hairpin formation, participates in base-stacking interactions near the cleavage siteBy similarity1
Metal bindingi965Divalent metal cation; catalyticBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri293 – 332RING-typePROSITE-ProRule annotationAdd BLAST40
Zinc fingeri354 – 383RAG1-typePROSITE-ProRule annotationAdd BLAST30
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi392 – 459NBDPROSITE-ProRule annotationAdd BLAST68

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, DNA-binding, Endonuclease, Hydrolase, Multifunctional enzyme, Nuclease, Transferase
Biological processDNA recombination, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1266695 Interleukin-7 signaling
R-HSA-5687128 MAPK6/MAPK4 signaling

SIGNOR Signaling Network Open Resource

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SIGNORi
P15918

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
V(D)J recombination-activating protein 1
Short name:
RAG-1
Alternative name(s):
RING finger protein 74
Including the following 2 domains:
Endonuclease RAG1 (EC:3.1.-.-)
E3 ubiquitin-protein ligase RAG1 (EC:2.3.2.27)
Alternative name(s):
RING-type E3 ubiquitin transferase RAG1Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAG1
Synonyms:RNF74
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000166349.9

Human Gene Nomenclature Database

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HGNCi
HGNC:9831 RAG1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
179615 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P15918

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined cellular and humoral immune defects with granulomas (CHIDG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionImmunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography.
See also OMIM:233650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_045957314R → W in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918568EnsemblClinVar.1
Natural variantiVAR_025979507R → W in CHIDG and OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome; reduced recombination activity when associated with H-737. 2 PublicationsCorresponds to variant dbSNP:rs104894298EnsemblClinVar.1
Natural variantiVAR_008891737R → H in OS and CHIDG; reduced recombination activity when associated with T-507. 2 PublicationsCorresponds to variant dbSNP:rs104894286EnsemblClinVar.1
Natural variantiVAR_045958778R → Q in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918569EnsemblClinVar.1
Natural variantiVAR_045959975R → W in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918570EnsemblClinVar.1
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
See also OMIM:601457
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025975433V → M in OS and T(-)B(-)NK(+) SCID; found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome. 2 PublicationsCorresponds to variant dbSNP:rs199474679EnsemblClinVar.1
Natural variantiVAR_025981559R → S in T(-)B(-)NK(+) SCID and OS; also found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome; decreased recombination activity. 3 PublicationsCorresponds to variant dbSNP:rs199474681EnsemblClinVar.1
Natural variantiVAR_007803624R → H in T(-)B(-)NK(+) SCID; decreased recombination activity. 2 PublicationsCorresponds to variant dbSNP:rs199474680EnsemblClinVar.1
Natural variantiVAR_007804722E → K in T(-)B(-)NK(+) SCID; decreased recombination activity. 1 PublicationCorresponds to variant dbSNP:rs28933392EnsemblClinVar.1
Natural variantiVAR_078308774 – 1043Missing in T(-)B(-)NK(+) SCID; unknown pathological significance. 1 PublicationAdd BLAST270
Natural variantiVAR_078309897 – 1043Missing in T(-)B(-)NK(+) SCID; also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome; loss of recombination activity; unknown pathological significance. 3 PublicationsAdd BLAST147
Natural variantiVAR_078310938 – 1043Missing in T(-)B(-)NK(+) SCID; decreased recombination activity. 1 PublicationAdd BLAST106
Omenn syndrome (OS)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.
See also OMIM:603554
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025971328C → Y in OS. 1 PublicationCorresponds to variant dbSNP:rs121918571EnsemblClinVar.1
Natural variantiVAR_008886396R → C in OS. 2 PublicationsCorresponds to variant dbSNP:rs104894289EnsemblClinVar.1
Natural variantiVAR_008887396R → H in OS. 2 PublicationsCorresponds to variant dbSNP:rs104894291EnsemblClinVar.1
Natural variantiVAR_025972396R → L in OS. 1 PublicationCorresponds to variant dbSNP:rs104894291EnsemblClinVar.1
Natural variantiVAR_025973401S → P in OS. 2 PublicationsCorresponds to variant dbSNP:rs199474682EnsemblClinVar.1
Natural variantiVAR_025974410R → Q in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474684EnsemblClinVar.1
Natural variantiVAR_008888429D → G in OS. 1 PublicationCorresponds to variant dbSNP:rs104894292EnsemblClinVar.1
Natural variantiVAR_025975433V → M in OS and T(-)B(-)NK(+) SCID; found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome. 2 PublicationsCorresponds to variant dbSNP:rs199474679EnsemblClinVar.1
Natural variantiVAR_025976435M → V in OS. 1 PublicationCorresponds to variant dbSNP:rs141524540EnsemblClinVar.1
Natural variantiVAR_025977444A → V in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474685EnsemblClinVar.1
Natural variantiVAR_067274454L → Q in OS. 1 PublicationCorresponds to variant dbSNP:rs199474677EnsemblClinVar.1
Natural variantiVAR_025978474R → H in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474686EnsemblClinVar.1
Natural variantiVAR_025979507R → W in CHIDG and OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome; reduced recombination activity when associated with H-737. 2 PublicationsCorresponds to variant dbSNP:rs104894298EnsemblClinVar.1
Natural variantiVAR_025980522W → C in OS; also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 2 PublicationsCorresponds to variant dbSNP:rs193922461EnsemblClinVar.1
Natural variantiVAR_025981559R → S in T(-)B(-)NK(+) SCID and OS; also found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome; decreased recombination activity. 3 PublicationsCorresponds to variant dbSNP:rs199474681EnsemblClinVar.1
Natural variantiVAR_008890561R → C in OS. 1 PublicationCorresponds to variant dbSNP:rs104894285EnsemblClinVar.1
Natural variantiVAR_008889561R → H in OS. 1 PublicationCorresponds to variant dbSNP:rs104894284EnsemblClinVar.1
Natural variantiVAR_025982624R → C in OS. 1 PublicationCorresponds to variant dbSNP:rs199474688EnsemblClinVar.1
Natural variantiVAR_025983669E → G in OS. 1 PublicationCorresponds to variant dbSNP:rs199474689EnsemblClinVar.1
Natural variantiVAR_067276699R → W in OS; also in a patient with multiple autoimmune disorders. 1 PublicationCorresponds to variant dbSNP:rs199474676EnsemblClinVar.1
Natural variantiVAR_008891737R → H in OS and CHIDG; reduced recombination activity when associated with T-507. 2 PublicationsCorresponds to variant dbSNP:rs104894286EnsemblClinVar.1
Natural variantiVAR_025984753H → L in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474687EnsemblClinVar.1
Natural variantiVAR_008893885L → R in OS. 1 PublicationCorresponds to variant dbSNP:rs199474691EnsemblClinVar.1
Natural variantiVAR_008894912Y → C in OS. 1 PublicationCorresponds to variant dbSNP:rs104894290EnsemblClinVar.1
Natural variantiVAR_025987975R → Q in OS. 1 PublicationCorresponds to variant dbSNP:rs150739647EnsemblClinVar.1
Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia.
See also OMIM:609889
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025985841R → W in T-CMVA; also found in a patient with an atypical form of severe combined immunodeficiency /Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894287EnsemblClinVar.1
Natural variantiVAR_025988981Q → P in T-CMVA. 1 PublicationCorresponds to variant dbSNP:rs104894288EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNET

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DisGeNETi
5896

MalaCards human disease database

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MalaCardsi
RAG1
MIMi233650 phenotype
601457 phenotype
603554 phenotype
609889 phenotype

Open Targets

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OpenTargetsi
ENSG00000166349

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
231154 Combined immunodeficiency due to partial RAG1 deficiency
157949 Combined immunodeficiency with skin granulomas
39041 Omenn syndrome
331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34185

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RAG1

Domain mapping of disease mutations (DMDM)

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DMDMi
313104166

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000560041 – 1043V(D)J recombination-activating protein 1Add BLAST1043

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki234Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autoubiquitinated in the presence of CDC34/UBCH3.By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P15918

PRoteomics IDEntifications database

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PRIDEi
P15918

ProteomicsDB human proteome resource

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ProteomicsDBi
53241

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P15918

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P15918

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P15918

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Maturing lymphoid cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000166349 Expressed in 98 organ(s), highest expression level in thymus

CleanEx database of gene expression profiles

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CleanExi
HS_RAG1

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P15918 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA043939

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2. Interacts with DCAF1, leading to recruitment of the CUL4A-RBX1-DDB1-DCAF1/VPRBP complex to ubiquitinate proteins and limit error-prone repair during V(D)J recombination (By similarity).By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163332EBI-1755109,EBI-389883

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111832, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P15918

Protein interaction database and analysis system

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IntActi
P15918, 14 interactors

Molecular INTeraction database

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MINTi
P15918

STRING: functional protein association networks

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STRINGi
9606.ENSP00000299440

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P15918

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P15918

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 288Interaction with importin alpha-1Add BLAST288

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The RING-type zinc finger mediates the E3 ubiquitin-protein ligase activity.By similarity
The NBD (nonamer binding) DNA-binding domain mediates the specific binding to the nonamer RSS motif by forming a tightly interwoven homodimer that binds and synapses 2 nonamer elements, with each NBD making contact with both DNA molecules. Each RSS is composed of well-conserved heptamer (consensus 5'-CACAGTG-3') and nonamer (consensus 5'-ACAAAAACC-3') sequences separated by a spacer of either 12 bp or 23 bp.PROSITE-ProRule annotation

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RAG1 family.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri293 – 332RING-typePROSITE-ProRule annotationAdd BLAST40
Zinc fingeri354 – 383RAG1-typePROSITE-ProRule annotationAdd BLAST30

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IKNG Eukaryota
ENOG4110KH0 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008679

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000232009

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG003861

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P15918

KEGG Orthology (KO)

More...
KOi
K10628

Identification of Orthologs from Complete Genome Data

More...
OMAi
GYHPFEW

Database of Orthologous Groups

More...
OrthoDBi
85196at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P15918

TreeFam database of animal gene trees

More...
TreeFami
TF331926

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024627 RAG1
IPR035714 RAG1_imp-bd
IPR019485 RAG1_Znf
IPR023336 RAG_nonamer-bd_dom
IPR036236 Znf_C2H2_sf
IPR018957 Znf_C3HC4_RING-type
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS

The PANTHER Classification System

More...
PANTHERi
PTHR11539 PTHR11539, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12940 RAG1, 1 hit
PF12560 RAG1_imp_bd, 1 hit
PF00097 zf-C3HC4, 1 hit
PF10426 zf-RAG1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00184 RING, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57667 SSF57667, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51487 NBD, 1 hit
PS51765 ZF_RAG1, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P15918-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAASFPPTLG LSSAPDEIQH PHIKFSEWKF KLFRVRSFEK TPEEAQKEKK
60 70 80 90 100
DSFEGKPSLE QSPAVLDKAD GQKPVPTQPL LKAHPKFSKK FHDNEKARGK
110 120 130 140 150
AIHQANLRHL CRICGNSFRA DEHNRRYPVH GPVDGKTLGL LRKKEKRATS
160 170 180 190 200
WPDLIAKVFR IDVKADVDSI HPTEFCHNCW SIMHRKFSSA PCEVYFPRNV
210 220 230 240 250
TMEWHPHTPS CDICNTARRG LKRKSLQPNL QLSKKLKTVL DQARQARQHK
260 270 280 290 300
RRAQARISSK DVMKKIANCS KIHLSTKLLA VDFPEHFVKS ISCQICEHIL
310 320 330 340 350
ADPVETNCKH VFCRVCILRC LKVMGSYCPS CRYPCFPTDL ESPVKSFLSV
360 370 380 390 400
LNSLMVKCPA KECNEEVSLE KYNHHISSHK ESKEIFVHIN KGGRPRQHLL
410 420 430 440 450
SLTRRAQKHR LRELKLQVKA FADKEEGGDV KSVCMTLFLL ALRARNEHRQ
460 470 480 490 500
ADELEAIMQG KGSGLQPAVC LAIRVNTFLS CSQYHKMYRT VKAITGRQIF
510 520 530 540 550
QPLHALRNAE KVLLPGYHHF EWQPPLKNVS SSTDVGIIDG LSGLSSSVDD
560 570 580 590 600
YPVDTIAKRF RYDSALVSAL MDMEEDILEG MRSQDLDDYL NGPFTVVVKE
610 620 630 640 650
SCDGMGDVSE KHGSGPVVPE KAVRFSFTIM KITIAHSSQN VKVFEEAKPN
660 670 680 690 700
SELCCKPLCL MLADESDHET LTAILSPLIA EREAMKSSEL MLELGGILRT
710 720 730 740 750
FKFIFRGTGY DEKLVREVEG LEASGSVYIC TLCDATRLEA SQNLVFHSIT
760 770 780 790 800
RSHAENLERY EVWRSNPYHE SVEELRDRVK GVSAKPFIET VPSIDALHCD
810 820 830 840 850
IGNAAEFYKI FQLEIGEVYK NPNASKEERK RWQATLDKHL RKKMNLKPIM
860 870 880 890 900
RMNGNFARKL MTKETVDAVC ELIPSEERHE ALRELMDLYL KMKPVWRSSC
910 920 930 940 950
PAKECPESLC QYSFNSQRFA ELLSTKFKYR YEGKITNYFH KTLAHVPEII
960 970 980 990 1000
ERDGSIGAWA SEGNESGNKL FRRFRKMNAR QSKCYEMEDV LKHHWLYTSK
1010 1020 1030 1040
YLQKFMNAHN ALKTSGFTMN PQASLGDPLG IEDSLESQDS MEF
Length:1,043
Mass (Da):119,097
Last modified:November 30, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5417A7413DA8CB65
GO
Isoform 2 (identifier: P15918-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     931-1043: YEGKITNYFH...SLESQDSMEF → N

Note: No experimental confirmation available.
Show »
Length:931
Mass (Da):106,179
Checksum:iB69216D4F28FE756
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAM77798 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007800156A → V Polymorphism; no effect on recombination activity. 1 PublicationCorresponds to variant dbSNP:rs1801203EnsemblClinVar.1
Natural variantiVAR_029260169S → L. Corresponds to variant dbSNP:rs4151027Ensembl.1
Natural variantiVAR_007801244R → G1 PublicationCorresponds to variant dbSNP:rs199474683EnsemblClinVar.1
Natural variantiVAR_029261247R → H. Corresponds to variant dbSNP:rs4151029Ensembl.1
Natural variantiVAR_007802249H → R3 PublicationsCorresponds to variant dbSNP:rs3740955Ensembl.1
Natural variantiVAR_020113302D → E. Corresponds to variant dbSNP:rs4151030EnsemblClinVar.1
Natural variantiVAR_045957314R → W in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918568EnsemblClinVar.1
Natural variantiVAR_025971328C → Y in OS. 1 PublicationCorresponds to variant dbSNP:rs121918571EnsemblClinVar.1
Natural variantiVAR_078305358C → Y Found in a patient with common variable immunodeficiency with B cell deficiency; decreased recombinant activity. 1 Publication1
Natural variantiVAR_078306375H → D Found in a patient with T and B cell immunodeficiency and progressive multifocal leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773272902Ensembl.1
Natural variantiVAR_008886396R → C in OS. 2 PublicationsCorresponds to variant dbSNP:rs104894289EnsemblClinVar.1
Natural variantiVAR_008887396R → H in OS. 2 PublicationsCorresponds to variant dbSNP:rs104894291EnsemblClinVar.1
Natural variantiVAR_025972396R → L in OS. 1 PublicationCorresponds to variant dbSNP:rs104894291EnsemblClinVar.1
Natural variantiVAR_025973401S → P in OS. 2 PublicationsCorresponds to variant dbSNP:rs199474682EnsemblClinVar.1
Natural variantiVAR_025974410R → Q in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474684EnsemblClinVar.1
Natural variantiVAR_008888429D → G in OS. 1 PublicationCorresponds to variant dbSNP:rs104894292EnsemblClinVar.1
Natural variantiVAR_025975433V → M in OS and T(-)B(-)NK(+) SCID; found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome. 2 PublicationsCorresponds to variant dbSNP:rs199474679EnsemblClinVar.1
Natural variantiVAR_025976435M → V in OS. 1 PublicationCorresponds to variant dbSNP:rs141524540EnsemblClinVar.1
Natural variantiVAR_025977444A → V in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474685EnsemblClinVar.1
Natural variantiVAR_029262449R → K. Corresponds to variant dbSNP:rs4151031EnsemblClinVar.1
Natural variantiVAR_067274454L → Q in OS. 1 PublicationCorresponds to variant dbSNP:rs199474677EnsemblClinVar.1
Natural variantiVAR_067275474R → C Probable disease-associated mutation found in a patient with relatively late onset of infections and isolated T-cell lymphopenia; also found in a patient with T and B cell immunodeficiency and progressive multifocal leukoencephalopathy; decreases recombination activity; no effect on protein abundance. 2 PublicationsCorresponds to variant dbSNP:rs199474678EnsemblClinVar.1
Natural variantiVAR_025978474R → H in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474686EnsemblClinVar.1
Natural variantiVAR_025979507R → W in CHIDG and OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome; reduced recombination activity when associated with H-737. 2 PublicationsCorresponds to variant dbSNP:rs104894298EnsemblClinVar.1
Natural variantiVAR_025980522W → C in OS; also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 2 PublicationsCorresponds to variant dbSNP:rs193922461EnsemblClinVar.1
Natural variantiVAR_029263525P → S. Corresponds to variant dbSNP:rs4151032Ensembl.1
Natural variantiVAR_025981559R → S in T(-)B(-)NK(+) SCID and OS; also found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome; decreased recombination activity. 3 PublicationsCorresponds to variant dbSNP:rs199474681EnsemblClinVar.1
Natural variantiVAR_008890561R → C in OS. 1 PublicationCorresponds to variant dbSNP:rs104894285EnsemblClinVar.1
Natural variantiVAR_008889561R → H in OS. 1 PublicationCorresponds to variant dbSNP:rs104894284EnsemblClinVar.1
Natural variantiVAR_078307612H → R Found in a patient with an atypical form of combined immunodeficiency; unknown pathological significance. 1 Publication1
Natural variantiVAR_025982624R → C in OS. 1 PublicationCorresponds to variant dbSNP:rs199474688EnsemblClinVar.1
Natural variantiVAR_007803624R → H in T(-)B(-)NK(+) SCID; decreased recombination activity. 2 PublicationsCorresponds to variant dbSNP:rs199474680EnsemblClinVar.1
Natural variantiVAR_025983669E → G in OS. 1 PublicationCorresponds to variant dbSNP:rs199474689EnsemblClinVar.1
Natural variantiVAR_067276699R → W in OS; also in a patient with multiple autoimmune disorders. 1 PublicationCorresponds to variant dbSNP:rs199474676EnsemblClinVar.1
Natural variantiVAR_007804722E → K in T(-)B(-)NK(+) SCID; decreased recombination activity. 1 PublicationCorresponds to variant dbSNP:rs28933392EnsemblClinVar.1
Natural variantiVAR_008891737R → H in OS and CHIDG; reduced recombination activity when associated with T-507. 2 PublicationsCorresponds to variant dbSNP:rs104894286EnsemblClinVar.1
Natural variantiVAR_025984753H → L in OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs199474687EnsemblClinVar.1
Natural variantiVAR_078308774 – 1043Missing in T(-)B(-)NK(+) SCID; unknown pathological significance. 1 PublicationAdd BLAST270
Natural variantiVAR_045958778R → Q in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918569EnsemblClinVar.1
Natural variantiVAR_008892820K → R. Corresponds to variant dbSNP:rs2227973EnsemblClinVar.1
Natural variantiVAR_025985841R → W in T-CMVA; also found in a patient with an atypical form of severe combined immunodeficiency /Omenn syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894287EnsemblClinVar.1
Natural variantiVAR_025986855N → I Probable disease-associated mutation found in a patient with severe combined immunodeficiency with maternal fetal engraftment. 1 PublicationCorresponds to variant dbSNP:rs199474690EnsemblClinVar.1
Natural variantiVAR_020114880E → K. Corresponds to variant dbSNP:rs4151033EnsemblClinVar.1
Natural variantiVAR_008893885L → R in OS. 1 PublicationCorresponds to variant dbSNP:rs199474691EnsemblClinVar.1
Natural variantiVAR_029264887D → N. Corresponds to variant dbSNP:rs4151034EnsemblClinVar.1
Natural variantiVAR_078309897 – 1043Missing in T(-)B(-)NK(+) SCID; also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome; loss of recombination activity; unknown pathological significance. 3 PublicationsAdd BLAST147
Natural variantiVAR_008894912Y → C in OS. 1 PublicationCorresponds to variant dbSNP:rs104894290EnsemblClinVar.1
Natural variantiVAR_078310938 – 1043Missing in T(-)B(-)NK(+) SCID; decreased recombination activity. 1 PublicationAdd BLAST106
Natural variantiVAR_025987975R → Q in OS. 1 PublicationCorresponds to variant dbSNP:rs150739647EnsemblClinVar.1
Natural variantiVAR_045959975R → W in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918570EnsemblClinVar.1
Natural variantiVAR_025988981Q → P in T-CMVA. 1 PublicationCorresponds to variant dbSNP:rs104894288EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055883931 – 1043YEGKI…DSMEF → N in isoform 2. 1 PublicationAdd BLAST113

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M29474 mRNA Translation: AAA60248.1
AY130302 Genomic DNA Translation: AAM77798.1 Sequence problems.
AC061999 Genomic DNA No translation available.
AC139427 Genomic DNA No translation available.
BC037344 mRNA Translation: AAH37344.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7902.1 [P15918-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A33754

NCBI Reference Sequences

More...
RefSeqi
NP_000439.1, NM_000448.2
XP_005253098.1, XM_005253041.4 [P15918-1]
XP_011518552.1, XM_011520250.2 [P15918-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.538979
Hs.677010
Hs.73958

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000299440; ENSP00000299440; ENSG00000166349 [P15918-1]
ENST00000534663; ENSP00000434610; ENSG00000166349 [P15918-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5896

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5896

UCSC genome browser

More...
UCSCi
uc001mwt.4 human [P15918-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
RAG1base

RAG1 deficiency database

Mendelian genes recombination activating gene 1 (RAG1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M29474 mRNA Translation: AAA60248.1
AY130302 Genomic DNA Translation: AAM77798.1 Sequence problems.
AC061999 Genomic DNA No translation available.
AC139427 Genomic DNA No translation available.
BC037344 mRNA Translation: AAH37344.1
CCDSiCCDS7902.1 [P15918-1]
PIRiA33754
RefSeqiNP_000439.1, NM_000448.2
XP_005253098.1, XM_005253041.4 [P15918-1]
XP_011518552.1, XM_011520250.2 [P15918-1]
UniGeneiHs.538979
Hs.677010
Hs.73958

3D structure databases

ProteinModelPortaliP15918
SMRiP15918
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111832, 26 interactors
CORUMiP15918
IntActiP15918, 14 interactors
MINTiP15918
STRINGi9606.ENSP00000299440

PTM databases

CarbonylDBiP15918
iPTMnetiP15918
PhosphoSitePlusiP15918

Polymorphism and mutation databases

BioMutaiRAG1
DMDMi313104166

Proteomic databases

PaxDbiP15918
PRIDEiP15918
ProteomicsDBi53241

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299440; ENSP00000299440; ENSG00000166349 [P15918-1]
ENST00000534663; ENSP00000434610; ENSG00000166349 [P15918-2]
GeneIDi5896
KEGGihsa:5896
UCSCiuc001mwt.4 human [P15918-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5896
DisGeNETi5896
EuPathDBiHostDB:ENSG00000166349.9

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RAG1
HGNCiHGNC:9831 RAG1
HPAiHPA043939
MalaCardsiRAG1
MIMi179615 gene
233650 phenotype
601457 phenotype
603554 phenotype
609889 phenotype
neXtProtiNX_P15918
OpenTargetsiENSG00000166349
Orphaneti231154 Combined immunodeficiency due to partial RAG1 deficiency
157949 Combined immunodeficiency with skin granulomas
39041 Omenn syndrome
331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency
PharmGKBiPA34185

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKNG Eukaryota
ENOG4110KH0 LUCA
GeneTreeiENSGT00390000008679
HOGENOMiHOG000232009
HOVERGENiHBG003861
InParanoidiP15918
KOiK10628
OMAiGYHPFEW
OrthoDBi85196at2759
PhylomeDBiP15918
TreeFamiTF331926

Enzyme and pathway databases

ReactomeiR-HSA-1266695 Interleukin-7 signaling
R-HSA-5687128 MAPK6/MAPK4 signaling
SIGNORiP15918

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5896

Protein Ontology

More...
PROi
PR:P15918

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000166349 Expressed in 98 organ(s), highest expression level in thymus
CleanExiHS_RAG1
GenevisibleiP15918 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR024627 RAG1
IPR035714 RAG1_imp-bd
IPR019485 RAG1_Znf
IPR023336 RAG_nonamer-bd_dom
IPR036236 Znf_C2H2_sf
IPR018957 Znf_C3HC4_RING-type
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PANTHERiPTHR11539 PTHR11539, 1 hit
PfamiView protein in Pfam
PF12940 RAG1, 1 hit
PF12560 RAG1_imp_bd, 1 hit
PF00097 zf-C3HC4, 1 hit
PF10426 zf-RAG1, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
SUPFAMiSSF57667 SSF57667, 1 hit
PROSITEiView protein in PROSITE
PS51487 NBD, 1 hit
PS51765 ZF_RAG1, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRAG1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P15918
Secondary accession number(s): E9PPC4, Q8IY72, Q8NER2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: November 30, 2010
Last modified: January 16, 2019
This is version 205 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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