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RAG1 recombination activating 1 [ Homo sapiens (human) ]

Gene ID: 5896, updated on 12-Oct-2019

Summary

Official Symbol
RAG1provided by HGNC
Official Full Name
recombination activating 1provided by HGNC
Primary source
HGNC:HGNC:9831
See related
Ensembl:ENSG00000166349 MIM:179615
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAG-1; RNF74
Summary
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]
Expression
Broad expression in thyroid (RPKM 2.3), bone marrow (RPKM 1.9) and 20 other tissues See more
Orthologs

Genomic context

See RAG1 in Genome Data Viewer
Location:
11p12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (36510366..36579762)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (36532053..36601312)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene proline rich 5 like Neighboring gene TNF receptor associated factor 6 Neighboring gene intraflagellar transport associated protein Neighboring gene recombination activating 2 Neighboring gene uncharacterized LOC107984325

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Interleukin-7 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-7 signaling, organism-specific biosystemInterleukin-7 (IL7) is produced primarily by T zone fibroblastic reticular cells found in lymphoid organs, and also expressed by non-hematopoietic stromal cells present in other tissues including the...
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK6/MAPK4 signaling, organism-specific biosystem (from REACTOME)
    MAPK6/MAPK4 signaling, organism-specific biosystemMAPK6 and MAPK4 (also known as ERK3 and ERK4) are vertebrate-specific atypical MAP kinases. Atypical MAPK are less well characterized than their conventional counterparts, and are generally classifi...
  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC43321

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
contributes_to double-stranded DNA endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endonuclease activity ISS
Inferred from Sequence or Structural Similarity
more info
 
histone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA recombination TAS
Traceable Author Statement
more info
PubMed 
T cell differentiation in thymus ISS
Inferred from Sequence or Structural Similarity
more info
 
T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
V(D)J recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
V(D)J recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
V(D)J recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
adaptive immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone monoubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
pre-B cell allelic exclusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pre-B cell allelic exclusion ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autoubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
DNA recombinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endodeoxyribonuclease complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
V(D)J recombination-activating protein 1
Names
RING finger protein 74
recombination activating gene 1
recombination activating protein 1
NP_000439.1
XP_005253098.1
XP_011518552.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007528.1 RefSeqGene

    Range
    5001..16750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_98

mRNA and Protein(s)

  1. NM_000448.2NP_000439.1  V(D)J recombination-activating protein 1

    See identical proteins and their annotated locations for NP_000439.1

    Status: REVIEWED

    Source sequence(s)
    AC139427, M29474
    Consensus CDS
    CCDS7902.1
    UniProtKB/Swiss-Prot
    P15918
    Related
    ENSP00000299440.5, ENST00000299440.5
    Conserved Domains (4) summary
    pfam00097
    Location:293331
    zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12560
    Location:11291
    RAG1_imp_bd; RAG1 importin binding
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    36510366..36579762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520250.2XP_011518552.1  V(D)J recombination-activating protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011518552.1

    UniProtKB/Swiss-Prot
    P15918
    Conserved Domains (4) summary
    pfam00097
    Location:293331
    zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12560
    Location:11291
    RAG1_imp_bd; RAG1 importin binding
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1)
  2. XM_005253041.4XP_005253098.1  V(D)J recombination-activating protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005253098.1

    UniProtKB/Swiss-Prot
    P15918
    Conserved Domains (4) summary
    pfam00097
    Location:293331
    zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12560
    Location:11291
    RAG1_imp_bd; RAG1 importin binding
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1)
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