Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

NBN nibrin [ Homo sapiens (human) ]

Gene ID: 4683, updated on 6-Jul-2014
Official Symbol
NBNprovided by HGNC
Official Full Name
nibrinprovided by HGNC
Primary source
HGNC:7652
See related
Ensembl:ENSG00000104320; HPRD:04050; MIM:602667; Vega:OTTHUMG00000153546
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
ATV; NBS; P95; NBS1; AT-V1; AT-V2
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]
Location:
8q21
Exon count :
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (89933336..89984724, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (90945564..90996952, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6 Neighboring gene oxidative stress induced growth inhibitor family member 2 Neighboring gene 2,4-dienoyl CoA reductase 1, mitochondrial Neighboring gene calbindin 1, 28kDa

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Env, gp160, envelope glycoprotein env PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ATP-dependent DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to damaged DNA binding IC
Inferred by Curator
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
DNA damage response, signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
PubMed 
DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
 
blastocyst growth IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest TAS
Traceable Author Statement
more info
PubMed 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
mitotic G2 DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
mitotic cell cycle checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA-dependent DNA replication initiation TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Mre11 complex IDA
Inferred from Direct Assay
more info
PubMed 
PML body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear inclusion body IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
replication fork IEA
Inferred from Electronic Annotation
more info
 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
nibrin
Names
nibrin
cell cycle regulatory protein p95
Nijmegen breakage syndrome 1 (nibrin)
p95 protein of the MRE11/RAD50 complex

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_008860.1 

    Range
    5001..56336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_158

mRNA and Protein(s)

  1. NM_002485.4NP_002476.2  nibrin

    See proteins identical to NP_002476.2

    Status: REVIEWED

    Source sequence(s)
    BC040519, BC071590, BX640816
    Consensus CDS
    CCDS6249.1
    UniProtKB/Swiss-Prot
    O60934
    Related
    ENSP00000265433, OTTHUMP00000204086, ENST00000265433, OTTHUMT00000331583
    Conserved Domains (3) summary
    pfam08599
    Location:682746
    Blast Score: 345
    Nbs1_C; DNA damage repair protein Nbs1
    cd00027
    Location:114182
    Blast Score: 98
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    cd00060
    Location:1109
    Blast Score: 210
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    89933336..89984724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250923.1XP_005250980.1  

    See proteins identical to XP_005250980.1

    UniProtKB/Swiss-Prot
    O60934
    Related
    ENSP00000386924, OTTHUMP00000204088, ENST00000409330, OTTHUMT00000331585
    Conserved Domains (2) summary
    pfam08599
    Location:600664
    Blast Score: 343
    Nbs1_C; DNA damage repair protein Nbs1
    cd00027
    Location:32100
    Blast Score: 98
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

RNA

  1. XR_242391.1 RNA Sequence

  2. XR_242390.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    86155741..86207078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    90986489..91037825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001024688.1: Suppressed sequence

    Description
    NM_001024688.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...