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Gene: NBN (nibrin) Homo sapiens
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Symbol: NBN
Name: nibrin
Description: Exhibits protein N-terminus binding activity and transcription factor binding activity. Contributes to DNA helicase activity. Involved in several processes, including DNA metabolic process; positive regulation of phosphorylation; and regulation of telomere maintenance. Localizes to the nucleus and site of double-strand break. Implicated in several diseases, including Nijmegen breakage syndrome; aplastic anemia; breast cancer; precursor lymphoblastic lymphoma/leukemia; and reproductive organ cancer (multiple). Biomarker of Alzheimer's disease and breast cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AT-V1; AT-V2; ATV; cell cycle regulatory protein p95; FLJ10155; MGC87362; NBS; NBS1; Nijmegen breakage syndrome 1 (nibrin); nijmegen breakage syndrome protein 1; P95; p95 protein of the MRE11/RAD50 complex
Orthologs:
Mus musculus (house mouse) : Nbn (nibrin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nbn (nibrin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nbn (nibrin)
Pan paniscus (bonobo/pygmy chimpanzee) : NBN (nibrin)
Canis lupus familiaris (dog) : NBN (nibrin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nbn (nibrin)
Sus scrofa (pig) : NBN (nibrin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38889,933,336 - 89,984,724 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37890,945,564 - 90,996,952 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36891,014,740 - 91,066,075 (-)NCBINCBI36hg18NCBI36
Build 34891,014,888 - 91,066,072NCBI
Celera887,140,375 - 87,191,710 (-)NCBI
Cytogenetic Map8q21.3NCBI
HuRef886,155,741 - 86,207,078 (-)NCBIHuRef
CHM1_1890,986,489 - 91,037,878 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model