NBN - Gene info - The Human Protein Atlas

Gene name

NBN (HGNC Symbol)

Synonyms

AT-V1, AT-V2, ATV, NBS, NBS1

Description

Nibrin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

Cytoband

q21.3

Chromosome location (bp)

90945564 - 91015456

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000104320 (version 75.37)

Entrez gene

4683

UniProt

O60934 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NBN-001

ENSP00000265433
ENST00000265433

O60934
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O60934 [Direct mapping]
Nibrin
E5RGR7 [Target identity:21%; Query identity:100%]
Nibrin
E5RGN7 [Target identity:12%; Query identity:100%]
Nibrin

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0000075 [cell cycle checkpoint]
GO:0000077 [DNA damage checkpoint]
GO:0000723 [telomere maintenance]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0001701 [in utero embryonic development]
GO:0001832 [blastocyst growth]
GO:0003684 [damaged DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005657 [replication fork]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006915 [apoptotic process]
GO:0007050 [cell cycle arrest]
GO:0007093 [mitotic cell cycle checkpoint]
GO:0007095 [mitotic G2 DNA damage checkpoint]
GO:0007126 [meiosis]
GO:0008134 [transcription factor binding]
GO:0008283 [cell proliferation]
GO:0016605 [PML body]
GO:0030174 [regulation of DNA-dependent DNA replication initiation]
GO:0030330 [DNA damage response, signal transduction by p53 class mediator]
GO:0030870 [Mre11 complex]
GO:0031954 [positive regulation of protein autophosphorylation]
GO:0032508 [DNA duplex unwinding]
GO:0033674 [positive regulation of kinase activity]
GO:0035861 [site of double-strand break]
GO:0042405 [nuclear inclusion body]
GO:0045190 [isotype switching]
GO:0047485 [protein N-terminus binding]
GO:0050885 [neuromuscular process controlling balance]
GO:0097193 [intrinsic apoptotic signaling pathway]

754

NBN-002

ENSP00000379551
ENST00000396252

E2QRP0
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E2QRP0 [Target identity:100%; Query identity:100%]
Nibrin

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005515 [protein binding]

6.3

NBN-003

ENSP00000386924
ENST00000409330

O60934
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O60934 [Direct mapping]
Nibrin
E5RGR7 [Target identity:24%; Query identity:100%]
Nibrin
E5RGN7 [Target identity:13%; Query identity:100%]
Nibrin

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GO:0000075 [cell cycle checkpoint]
GO:0000077 [DNA damage checkpoint]
GO:0000723 [telomere maintenance]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0001832 [blastocyst growth]
GO:0003684 [damaged DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005657 [replication fork]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006915 [apoptotic process]
GO:0007050 [cell cycle arrest]
GO:0007093 [mitotic cell cycle checkpoint]
GO:0007095 [mitotic G2 DNA damage checkpoint]
GO:0007126 [meiosis]
GO:0008134 [transcription factor binding]
GO:0008283 [cell proliferation]
GO:0016605 [PML body]
GO:0030174 [regulation of DNA-dependent DNA replication initiation]
GO:0030330 [DNA damage response, signal transduction by p53 class mediator]
GO:0030870 [Mre11 complex]
GO:0031954 [positive regulation of protein autophosphorylation]
GO:0032508 [DNA duplex unwinding]
GO:0033674 [positive regulation of kinase activity]
GO:0035861 [site of double-strand break]
GO:0042405 [nuclear inclusion body]
GO:0045190 [isotype switching]
GO:0047485 [protein N-terminus binding]
GO:0050885 [neuromuscular process controlling balance]

672

NBN-009

ENSP00000428252
ENST00000523444

E2QRP0
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E2QRP0 [Target identity:100%; Query identity:100%]
Nibrin

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005515 [protein binding]

6.3

NBN-010

ENSP00000430983
ENST00000519426

E5RGU1
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E5RGU1 [Target identity:100%; Query identity:100%]
Nibrin

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005515 [protein binding]

159

17.4

NBN-011

ENSP00000428717
ENST00000517772

E5RGR7
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E5RGR7 [Target identity:100%; Query identity:100%]
Nibrin
E5RGN7 [Target identity:55%; Query identity:100%]
Nibrin

Show » « Hide

   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0000075 [cell cycle checkpoint]
GO:0001832 [blastocyst growth]
GO:0003684 [damaged DNA binding]
GO:0005634 [nucleus]
GO:0005657 [replication fork]
GO:0006915 [apoptotic process]
GO:0008283 [cell proliferation]
GO:0045190 [isotype switching]
GO:0050885 [neuromuscular process controlling balance]

165

18.2

NBN-013

ENSP00000429971
ENST00000517337

E5RGN7
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E5RGN7 [Target identity:100%; Query identity:100%]
Nibrin

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
Cancer-related genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

9.9

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.