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    RAD21 RAD21 cohesin complex component [ Homo sapiens (human) ]

    Gene ID: 5885, updated on 17-Jun-2024

    Summary

    Official Symbol
    RAD21provided by HGNC
    Official Full Name
    RAD21 cohesin complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:9811
    See related
    Ensembl:ENSG00000164754 MIM:606462; AllianceGenome:HGNC:9811
    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
    MGS; HR21; MCD1; NXP1; SCC1; CDLS4; hHR21; HRAD21
    Summary
    The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 65.1), lymph node (RPKM 64.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RAD21 in Genome Data Viewer
    Location:
    8q24.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (116845934..116874776, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (117974085..118002938, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (117858173..117887015, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3 subunit H Neighboring gene uncharacterized LOC124902006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27831 Neighboring gene uncharacterized LOC112268030 Neighboring gene UTP23 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27832 Neighboring gene RAD21 antisense RNA 1 Neighboring gene microRNA 3610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19475 Neighboring gene uncharacterized LOC105375715 Neighboring gene alanine and arginine rich domain containing protein

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Cornelia de Lange syndrome 4
    MedGen: C3553517 OMIM: 614701 GeneReviews: Cornelia de Lange Syndrome
    Compare labs
    De Lange syndrome
    MedGen: C0270972 GeneReviews: Cornelia de Lange Syndrome
    Compare labs
    Mungan syndrome
    MedGen: C1969653 OMIM: 611376 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-03-08)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2022-03-08)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of RAD21 homolog (S. pombe, RAD21) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr decreases the amount of Scc1/Rad21 protein in the chromatin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25655, FLJ40596, KIAA0078

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lncRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in establishment of meiotic sister chromatid cohesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in establishment of mitotic sister chromatid cohesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of interleukin-1 beta production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mitotic metaphase/anaphase transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-10 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in reciprocal meiotic recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in replication-born double-strand break repair via sister chromatid exchange IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromosome TAS
    Traceable Author Statement
    more info
     
    located_in chromosome, centromeric region TAS
    Traceable Author Statement
    more info
     
    part_of cohesin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cohesin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in condensed nuclear chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of meiotic cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of meiotic cohesin complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
     
    part_of mitotic cohesin complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of mitotic cohesin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    double-strand-break repair protein rad21 homolog
    Names
    NXP-1
    RAD21 homolog
    SCC1 homolog
    kleisin
    nuclear matrix protein 1
    protein involved in DNA double-strand break repair
    sister chromatid cohesion 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_032862.1 RefSeqGene

      Range
      5001..33933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_772

    mRNA and Protein(s)

    1. NM_006265.3NP_006256.1  double-strand-break repair protein rad21 homolog

      See identical proteins and their annotated locations for NP_006256.1

      Status: REVIEWED

      Source sequence(s)
      BC050381, DA328186
      Consensus CDS
      CCDS6321.1
      UniProtKB/Swiss-Prot
      A8K0E0, O60216, Q15001, Q99568
      UniProtKB/TrEMBL
      A0A8I5KWV3
      Related
      ENSP00000297338.2, ENST00000297338.7
      Conserved Domains (2) summary
      pfam04824
      Location:574628
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1104
      Rad21_Rec8_N; N-terminus of Rad21 / Rec8 like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      116845934..116874776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      117974085..118002938 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)