Format

Send to:

Choose Destination

RAG1 recombination activating 1 [ Homo sapiens (human) ]

Gene ID: 5896, updated on 25-Jan-2022

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; AllianceGenome:HGNC:9831
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See RAG1 in Genome Data Viewer
Location:
11p12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (36510353..36579762)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (36531903..36601312)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene proline rich 5 like Neighboring gene Sharpr-MPRA regulatory region 14138 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 PubChem

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
enables 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 
enables endonuclease activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables histone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables metal ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in DNA recombination TAS
Traceable Author Statement
more info
PubMed 
involved_in T cell differentiation in thymus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in V(D)J recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in V(D)J recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in V(D)J recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in adaptive immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in histone monoubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in histone monoubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in pre-B cell allelic exclusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in pre-B cell allelic exclusion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein autoubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
involved_in thymus development IEA
Inferred from Electronic Annotation
more info
 
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of DNA recombinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of endodeoxyribonuclease complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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_000439.2
NP_001364206.1
NP_001364207.1
NP_001364208.1
NP_001364209.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_000448.3NP_000439.2  V(D)J recombination-activating protein 1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AC139427, M29474
    Consensus CDS
    CCDS7902.1
    Related
    ENSP00000299440.5, ENST00000299440.6
    Conserved Domains (4) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1), recombinase
    cd16530
    Location:289334
    RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
    pfam12560
    Location:12290
    RAG1_imp_bd; RAG1 importin binding
  2. NM_001377277.1NP_001364206.1  V(D)J recombination-activating protein 1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AC061999, AC139427
    Conserved Domains (4) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1), recombinase
    cd16530
    Location:289334
    RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
    pfam12560
    Location:12290
    RAG1_imp_bd; RAG1 importin binding
  3. NM_001377278.1NP_001364207.1  V(D)J recombination-activating protein 1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AC061999, AC139427
    Conserved Domains (4) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1), recombinase
    cd16530
    Location:289334
    RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
    pfam12560
    Location:12290
    RAG1_imp_bd; RAG1 importin binding
  4. NM_001377279.1NP_001364208.1  V(D)J recombination-activating protein 1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AC061999, AC139427
    Conserved Domains (4) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1), recombinase
    cd16530
    Location:289334
    RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
    pfam12560
    Location:12290
    RAG1_imp_bd; RAG1 importin binding
  5. NM_001377280.1NP_001364209.1  V(D)J recombination-activating protein 1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 through 5 encode the same protein.
    Source sequence(s)
    AC061999, AC139427
    Conserved Domains (4) summary
    pfam10426
    Location:354383
    zf-RAG1; Recombination-activating protein 1 zinc-finger domain
    pfam12940
    Location:3861021
    RAG1; Recombination-activation protein 1 (RAG1), recombinase
    cd16530
    Location:289334
    RING-HC_RAG1; RING finger, HC subclass, found in recombination activating gene-1 (RAG-1) and similar proteins
    pfam12560
    Location:12290
    RAG1_imp_bd; RAG1 importin binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    36510353..36579762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center