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Rag1 recombination activating 1 [ Mus musculus (house mouse) ]

Gene ID: 19373, updated on 27-Nov-2024

Summary

Official Symbol
Rag1provided by MGI
Official Full Name
recombination activating 1provided by MGI
Primary source
MGI:MGI:97848
See related
Ensembl:ENSMUSG00000061311 AllianceGenome:MGI:97848
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rag-1
Summary
Enables several functions, including protein homodimerization activity; ubiquitin protein ligase activity; and zinc ion binding activity. Involved in several processes, including V(D)J recombination; lymphocyte differentiation; and protein autoubiquitination. Acts upstream of or within several processes, including T cell homeostasis; negative regulation of apoptotic process; and thymus development. Located in nucleus. Is expressed in several structures, including early conceptus; gut; hemolymphoid system; mesenchyme derived from splanchnopleure; and metanephros. Human ortholog(s) of this gene implicated in Omenn syndrome; combined cellular and humoral immune defects with granulomas; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Orthologous to human RAG1 (recombination activating 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward thymus adult (RPKM 117.3) See more
Orthologs
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Genomic context

See Rag1 in Genome Data Viewer
Location:
2 E2; 2 53.88 cM
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (101468597..101479877, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (101638252..101649532, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101391576-101391907 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101392526-101392727 Neighboring gene predicted gene, 39887 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101403351-101403564 Neighboring gene intraflagellar transport associated protein Neighboring gene VISTA enhancer mm1328 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101448688-101449009 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:101464796-101464979 Neighboring gene recombination activating gene 2 Neighboring gene predicted gene, 34041 Neighboring gene TNF receptor-associated factor 6 Neighboring gene STARR-positive B cell enhancer ABC_E5948

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: Iftap

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to double-stranded DNA endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables endonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables histone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin protein ligase activity ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within B cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in B cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within DNA recombination TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within T cell differentiation in thymus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T cell differentiation in thymus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within T cell homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in V(D)J recombination IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within V(D)J recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in V(D)J recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in V(D)J recombination ISO
Inferred from Sequence Orthology
more info
 
involved_in adaptive immune response IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within adaptive immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of T cell apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of thymocyte apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pre-B cell allelic exclusion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in pre-B cell allelic exclusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of T cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of behavioral fear response ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within thymus development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
 
involved_in visual learning ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of DNA recombinase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of endodeoxyribonuclease complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
V(D)J recombination-activating protein 1
Names
recombinase activating gene 1
recombination activating gene 1
recombination activating protein 1
NP_033045.2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_009019.2NP_033045.2  V(D)J recombination-activating protein 1

    See identical proteins and their annotated locations for NP_033045.2

    Status: VALIDATED

    Source sequence(s)
    AK162974, AL929569
    Consensus CDS
    CCDS16463.1
    UniProtKB/Swiss-Prot
    A2AVN8, P15919
    UniProtKB/TrEMBL
    Q78NA6
    Related
    ENSMUSP00000077584.6, ENSMUST00000078494.6
    Conserved Domains (4) summary
    pfam00097
    Location:290328
    zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
    pfam10426
    Location:351380
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12560
    Location:12288
    RAG1_imp_bd; RAG1 importin binding
    pfam12940
    Location:3861024
    RAG1; Recombination-activation protein 1 (RAG1)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    101468597..101479877 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)