Gene

nbn

ID
ZDB-GENE-041008-35
Name
nibrin
Symbol
nbn Nomenclature History
Previous Names
  • im:6911679 (1)
  • Nbs1 (1)
  • zgc:194152 (1)
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Predicted to enable several functions, including damaged DNA binding activity; phosphorylation-dependent protein binding activity; and protein serine/threonine kinase activator activity. Predicted to be involved in several processes, including DNA metabolic process; R-loop processing; and mitotic G2 DNA damage checkpoint signaling. Predicted to act upstream of or within double-strand break repair; meiotic cell cycle; and telomere maintenance. Predicted to be located in PML body and chromosome. Predicted to be part of Mre11 complex. Predicted to be active in chromosome, telomeric region and site of double-strand break. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; rectum cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa22834Allele with one point mutationUnknownPremature StopENU
sa28655Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-nbnN/AHuang et al., 2013
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Human Disease
Associated With nbn Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
acute lymphoblastic leukemia Alliance Leukemia, acute lymphoblastic 613065
aplastic anemia Alliance Aplastic anemia 609135
Nijmegen breakage syndrome Alliance Nijmegen breakage syndrome 251260
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Associated With nbn Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000253 Forkhead-associated (FHA) domain
Domain IPR001357 BRCT domain
Domain IPR013908 Nibrin, C-terminal
Domain IPR032429 Nibrin, second BRCT domain
Family IPR016592 Nibrin
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Domain Details Per Protein
Protein Additional Resources Length BRCT domain BRCT domain superfamily Forkhead-associated (FHA) domain Nibrin Nibrin, C-terminal Nibrin-related Nibrin, second BRCT domain Nibrin, second BRCT domain superfamily SMAD/FHA domain superfamily
UniProtKB:Q5I2W8 InterPro 818
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 16
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript nbn-203 (1) Ensembl 645 nt
mRNA nbn-201 (1) Ensembl 2,680 nt
mRNA nbn-202 (1) Ensembl 2,647 nt
mRNA nbn-204 (1) Ensembl 3,661 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-7F3ZFIN Curated Data
EncodesESTIMAGE:6911679Thisse et al., 2004
EncodescDNAMGC:194152ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanNBN8
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MouseNbn4
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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