nbn nibrin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: nbnprovided by ZNC
Official Full Name: nibrinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-041008-35
See related: Ensembl:ENSDARG00000040303 AllianceGenome:ZFIN:ZDB-GENE-041008-35
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: Nbs1; im:6911679; zgc:194152
Summary: Predicted to enable several functions, including chromatin-protein adaptor 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). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 16

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	16	NC_007127.7 (23837991..23875322)
105	previous assembly	GRCz10 (GCF_000002035.5)	16	NC_007127.6 (23922959..23960290)

Chromosome 16 - NC_007127.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables chromatin-protein adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphorylation-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine/threonine kinase activator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA double-strand break processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA duplex unwinding	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in R-loop processing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within double-strand break repair	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in mitotic G2 DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitotic G2 DNA damage checkpoint signaling	IEA Inferred from Electronic Annotation more info
involved_in protection from non-homologous end joining at telomere	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within telomere maintenance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Mre11 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Mre11 complex	IEA Inferred from Electronic Annotation more info
located_in PML body	IEA Inferred from Electronic Annotation more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
is_active_in chromosome, telomeric region	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: nibrin

Names: nijmegen breakage syndrome protein 1 homolog

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001014819.1 → NP_001014819.1 nibrin

See identical proteins and their annotated locations for NP_001014819.1

Status: PROVISIONAL

Source sequence(s)

AY858826

UniProtKB/Swiss-Prot

B3DHD3, Q5I2W8

Related

ENSDARP00000058973.5, ENSDART00000058974.6

Conserved Domains (5) summary

COG1716
Location:11 → 87

FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]

cd00027
Location:99 → 164

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:1 → 97

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 ...

pfam08599
Location:747 → 809

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:203 → 311

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein