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

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
RAD21 is a driver of chromosome 8 gain in Ewing sarcoma to mitigate replication stress.
Title: RAD21 is a driver of chromosome 8 gain in Ewing sarcoma to mitigate replication stress.

Submit: New GeneRIF Correction See all GeneRIFs (61)

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	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

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

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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

RH25306 (e-PCR)
- UniSTS:89346

WI-14191 (e-PCR)
- UniSTS:62229

Bda37g02 (e-PCR)
- UniSTS:27426

RH65259 (e-PCR)
- UniSTS:92992

G29205 (e-PCR)
- UniSTS:38977

G54641 (e-PCR)
- UniSTS:117842

SHGC-37645 (e-PCR)
- UniSTS:29783

G59637 (e-PCR)
- UniSTS:136793

D3S3884 (e-PCR)
- UniSTS:27233

G42913 (e-PCR)
- UniSTS:94819

G54034 (e-PCR)
- UniSTS:109416

STS-Z78334 (e-PCR)
- UniSTS:73861

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 more info	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

NG_032862.1 RefSeqGene

Range

5001..33933

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_772

mRNA and Protein(s)

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