Seroatlas · Human Serome Atlas

NBN

Nibrin

Also known as: AT-V1, AT-V2, ATV, NBN_HUMAN, NBS, NBS1

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

Protein identityUniProt · HPA

UniProt accession
O60934
Gene
NBN
Ensembl
ENSG00000104320
Chromosome
8
Canonical length
754 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitotic chromosome,Golgi apparatus

OverviewNCBI Gene

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

754 residues, UniProt reviewed canonical sequence.

>O60934|NBN
     1  MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT
    61  DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL
   121  DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF
   181  LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS
   241  AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ
   301  GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT
   361  TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT
   421  LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS
   481  ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH
   541  AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN
   601  DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR
   661  SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE
   721  EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NBN 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)
0.52
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • appendix: 22 nTPM
  • tonsil: 18 nTPM
  • breast: 18 nTPM
  • liver: 18 nTPM
  • urinary bladder: 18 nTPM
  • lymph node: 18 nTPM

Single-cell type

  • cardiomyocytes: 1,314 nCPM
  • neutrophils: 855 nCPM
  • adipocytes: 373 nCPM
  • neutrophil progenitors: 223 nCPM
  • epicardial cells: 143 nCPM
  • monocytes: 136 nCPM

Immune cell

  • neutrophil: 24 nTPM
  • basophil: 18 nTPM
  • eosinophil: 17 nTPM
  • non-classical monocyte: 12 nTPM
  • intermediate monocyte: 9.9 nTPM
  • memory B-cell: 9.6 nTPM

Brain region

  • hypothalamus: 12 nTPM
  • white matter: 12 nTPM
  • medulla oblongata: 9.7 nTPM
  • spinal cord: 9.2 nTPM
  • basal ganglia: 8.3 nTPM
  • thalamus: 8.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NBN.

Disease | AllUniProt

Conditions NBN is implicated in, by any mechanism.

Disease | GeneticClinVar

540 pathogenic / likely-pathogenic of 3,774 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.01
gnomAD pLI
0
gnomAD missense Z
0.61
DepMap mean gene effect
-0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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 NBN 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 NBN as an antibody target. Whether an autoantibody or antibody against NBN could matter depends on whether native NBN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NBN 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 NBN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NBN. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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