Seroatlas · Human Serome Atlas

RAD21

Double-strand-break repair protein rad21 homolog

Also known as: hHR21, KIAA0078, RAD21_HUMAN, SCC1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O60216
Gene: RAD21
Ensembl: ENSG00000164754
Chromosome: 8
Canonical length: 631 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

631 residues, UniProt reviewed canonical sequence.

>O60216|RAD21
     1  MFYAHFVLSK RGPLAKIWLA AHWDKKLTKA HVFECNLESS VESIISPKVK MALRTSGHLL
    61  LGVVRIYHRK AKYLLADCNE AFIKIKMAFR PGVVDLPEEN REAAYNAITL PEEFHDFDQP
   121  LPDLDDIDVA QQFSLNQSRV EEITMREEVG NISILQENDF GDFGMDDREI MREGSAFEDD
   181  DMLVSTTTSN LLLESEQSTS NLNEKINHLE YEDQYKDDNF GEGNDGGILD DKLISNNDGG
   241  IFDDPPALSE AGVMLPEQPA HDDMDEDDNV SMGGPDSPDS VDPVEPMPTM TDQTTLVPNE
   301  EEAFALEPID ITVKETKAKR KRKLIVDSVK ELDSKTIRAQ LSDYSDIVTT LDLAPPTKKL
   361  MMWKETGGVE KLFSLPAQPL WNNRLLKLFT RCLTPLVPED LRKRRKGGEA DNLDEFLKEF
   421  ENPEVPREDQ QQQHQQRDVI DEPIIEEPSR LQESVMEASR TNIDESAMPP PPPQGVKRKA
   481  GQIDPEPVMP PQQVEQMEIP PVELPPEEPP NICQLIPELE LLPEKEKEKE KEKEDDEEEE
   541  DEDASGGDQD QEERRWNKRT QQMLHGLQRA LAKTGAESIS LLELCRNTNR KQAAAKFYSF
   601  LVLKKQQAIE LTQEEPYSDI IATPGPRFHI I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAD21 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 151 nTPM

Expression across tissuesHPA

Tissue

thymus: 151 nTPM
bone marrow: 116 nTPM
tonsil: 102 nTPM
lymph node: 102 nTPM
tongue: 87 nTPM
retina: 85 nTPM

Single-cell type

late spermatids: 737 nCPM
monocyte progenitors: 382 nCPM
neutrophils: 364 nCPM
early spermatids: 356 nCPM
neutrophil progenitors: 289 nCPM
erythrocyte progenitors: 285 nCPM

Immune cell

T-reg: 32 nTPM
basophil: 29 nTPM
neutrophil: 22 nTPM
eosinophil: 22 nTPM
naive CD4 T-cell: 15 nTPM
memory CD8 T-cell: 15 nTPM

Brain region

white matter: 132 nTPM
hypothalamus: 107 nTPM
medulla oblongata: 100 nTPM
spinal cord: 100 nTPM
cerebellum: 97 nTPM
basal ganglia: 97 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAD21.

Disease | AllUniProt

Conditions RAD21 is implicated in, by any mechanism.

Cornelia de Lange syndrome 4 with or without midline brain defects (CDLS4) MIM:614701
Mungan syndrome (MGS) MIM:611376

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 534 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cornelia de Lange syndrome 4
Inborn genetic diseases
RAD21-related disorder
Mungan syndrome
Acute megakaryoblastic leukemia in down syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.26
gnomAD pLI: 1
gnomAD missense Z: 2.64
DepMap mean gene effect: -1.48
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 18% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RAD21 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RAD21 as an antibody target. Whether an autoantibody or antibody against RAD21 could matter depends on whether native RAD21 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RAD21 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RAD21 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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