Display Settings:

Format

Send to:

Choose Destination

RAG1 recombination activating gene 1 [ Homo sapiens (human) ]

Gene ID: 5896, updated on 5-Apr-2015
Official Symbol
RAG1provided by HGNC
Official Full Name
recombination activating gene 1provided by HGNC
Primary source
HGNC:HGNC:9831
See related
Ensembl:ENSG00000166349; HPRD:01556; MIM:179615; Vega:OTTHUMG00000166392
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]
Orthologs
See RAG1 in MapViewer
Location:
11p13
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (36510400..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 uncharacterized LOC105376629 Neighboring gene TNF receptor-associated factor 6, E3 ubiquitin protein ligase Neighboring gene chromosome 11 open reading frame 74 Neighboring gene recombination activating gene 2 Neighboring gene transforming, acidic coiled-coil containing protein 3 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • 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 ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC43321

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
acid-amino acid ligase activity IEA
Inferred from Electronic Annotation
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
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
 
nucleic acid phosphodiester bond hydrolysis ISS
Inferred from Sequence or Structural Similarity
more info
 
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 T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
V(D)J recombination-activating protein 1
Names
V(D)J recombination-activating protein 1
RING finger protein 74
recombination activating protein 1
NP_000439.1

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, OTTHUMP00000232775, ENST00000299440, OTTHUMT00000389535
    Conserved Domains (3) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:513953
    RAG1; Recombination-activation protein 1 (RAG1)
    cd00162
    Location:293335
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    36510400..36579762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520251.1XP_011518553.1  

    See identical proteins and their annotated locations for XP_011518553.1

    Conserved Domains (3) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:513953
    RAG1; Recombination-activation protein 1 (RAG1)
    cd00162
    Location:293335
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably ...
  2. XM_011520250.1XP_011518552.1  

    See identical proteins and their annotated locations for XP_011518552.1

    Conserved Domains (3) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:513953
    RAG1; Recombination-activation protein 1 (RAG1)
    cd00162
    Location:293335
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably ...
  3. XM_005253041.3XP_005253098.1  

    See identical proteins and their annotated locations for XP_005253098.1

    UniProtKB/Swiss-Prot
    P15918
    Conserved Domains (3) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:513953
    RAG1; Recombination-activation protein 1 (RAG1)
    cd00162
    Location:293335
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably ...

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    36588249..36599998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)