Nbn
Gene Detail

Symbol Name ID

Nbn nibrin MGI:1351625

Synonyms

Nbs1

Feature Type

protein coding gene

Genetic Map

Chromosome 4

6.66 cM, cytoband A
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr4:15957925-15992589 bp, + strand From VEGA annotation of GRCm38   34665 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1858  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: nibrin, animal type
Gene Tree: Nbn

Human homologs

Human Homolog		NBN, nibrin
NCBI Gene ID		4683
neXtProt AC		NX_O60934
Human Synonyms		ATV, AT-V1, AT-V2, NBS, NBS1, P95
Human Chr (Location)		8q21; chr8:90945564-90996899 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human NBN

Alleles and phenotypes

All alleles(26) : Targeted(12) Gene trapped(14)
 

Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone.

 
Human Diseases Modeled Using Mouse Nbn (1)    Alleles Annotated to Human Diseases(7)   

Gene Ontology (GO) classifications

All GO classifications: (36 annotations)

Process	blastocyst growth, cell cycle, ...
Component	chromosome, chromosome, telomeric region, ...
Function	ATP-dependent DNA helicase activity, damaged DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (14)    Tissues (14)    Images (2)
Theiler Stages: 17, 23, 28

Assay Type	Results
RNA in situ	13
RT-PCR	1

cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(12) Genomic(1) cDNA(9) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000004636 (Evidence)
Ensembl Gene Model	ENSMUSG00000028224 (Evidence)
Entrez Gene	27354 (Evidence)
DFCI	TC1577421
DoTS	DT.101740671, DT.526278
Consensus CDS Project	CCDS17986.1
International Mouse Knockout Project Status	Nbn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000004636	VEGA Gene Model | MGI Sequence Detail	34665	C57BL/6J
transcript	OTTMUST00000010463	VEGA | MGI Sequence Detail	2533	Not Applicable
polypeptide	OTTMUSP00000004959	VEGA | MGI Sequence Detail	751	Not Applicable

All sequences(35) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(117 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001357	BRCT domain
InterPro	IPR013908	DNA repair Nbs1, C-terminal
InterPro	IPR000253	Forkhead-associated (FHA) domain
InterPro	IPR016592	Nibrin
InterPro	IPR008984	SMAD/FHA domain
Protein Ontology	PR:000011014	nibrin

References

(Earliest) J:59119 Vissinga CS, et al., Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome. Cytogenet Cell Genet. 1999;87(1-2):80-4
(Latest) J:191367 Lee Y, et al., Neurogenesis requires TopBP1 to prevent catastrophic replicative DNA damage in early progenitors. Nat Neurosci. 2012 Jun;15(6):819-26
All references(76)