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

Gene ID: 5885, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See RAD21 in Genome Data Viewer
Location:
8q24.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (116845934..116874776, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (117974085..118002938, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Determinants of Rad21 localization at the centrosome in human cells. Giménez-Abián JF, et al. Cell Cycle, 2010 May. PMID 20404544
  2. Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma. Schedel A, et al. Int J Mol Sci, 2022 May 5. PMID 35563565, Free PMC Article
  3. Cohesin Rad21 mediates loss of heterozygosity and is upregulated via Wnt promoting transcriptional dysregulation in gastrointestinal tumors. Xu H, et al. Cell Rep, 2014 Dec 11. PMID 25464844
  4. Cohesin defects lead to premature sister chromatid separation, kinetochore dysfunction, and spindle-assembly checkpoint activation. Hoque MT, et al. J Biol Chem, 2002 Nov 1. PMID 12200439
  5. Enhanced RAD21 cohesin expression confers poor prognosis in BRCA2 and BRCAX, but not BRCA1 familial breast cancers. Yan M, et al. Breast Cancer Res, 2012 Apr 26. PMID 22537934, Free PMC Article

See all (216) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RAD21 promotes oncogenesis and lethal progression of prostate cancer.
    Title: RAD21 promotes oncogenesis and lethal progression of prostate cancer.
  2. NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer.
    Title: NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer.
  3. Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.
    Title: Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.
  4. CBP and RAD21 Proteins Bind at the Termini of Forum Domains in Human Chromosomes.
    Title: CBP and RAD21 Proteins Bind at the Termini of Forum Domains in Human Chromosomes.
  5. RAD21 is the core subunit of the cohesin complex involved in directing genome organization.
    Title: RAD21 is the core subunit of the cohesin complex involved in directing genome organization.
  6. Interference with XPO1 Suppresses the Stemness and Radioresistance of CD44 Positive Cervical Cancer Cells via Binding with Rad21.
    Title: Interference with XPO1 Suppresses the Stemness and Radioresistance of CD44 Positive Cervical Cancer Cells via Binding with Rad21.
  7. Cohesin RAD21 Gene Promoter Methylation Correlated with Better Prognosis in Breast Cancer Patients.
    Title: Cohesin RAD21 Gene Promoter Methylation Correlated with Better Prognosis in Breast Cancer Patients.
  8. Genetic variation as a long-distance modulator of RAD21 expression in humans.
    Title: Genetic variation as a long-distance modulator of RAD21 expression in humans.
  9. Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
    Title: Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
  10. A pan-cancer landscape of telomeric content shows that RAD21 and HGF alterations are associated with longer telomeres.
    Title: A pan-cancer landscape of telomeric content shows that RAD21 and HGF alterations are associated with longer telomeres.
Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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
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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
located_in 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

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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)

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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.

Genomic

  1. NG_032862.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_006265.3 → NP_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:574 → 628
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:1 → 104
    Rad21_Rec8_N; N-terminus of Rad21 / Rec8 like protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60216.2 GenPept UniProtKB/Swiss-Prot:O60216

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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