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NBN nibrin [ Homo sapiens (human) ]

Gene ID: 4683, updated on 8-Dec-2018

Summary

Official Symbol
NBNprovided by HGNC
Official Full Name
nibrinprovided by HGNC
Primary source
HGNC:HGNC:7652
See related
Ensembl:ENSG00000104320 MIM:602667
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]
Expression
Ubiquitous expression in appendix (RPKM 14.8), thyroid (RPKM 14.2) and 25 other tissues See more
Orthologs

Genomic context

See NBN in Genome Data Viewer
Location:
8q21.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 6B1 pseudogene 6 Neighboring gene RNA, U6 small nuclear 925, pseudogene Neighboring gene oxidative stress induced growth inhibitor family member 2 Neighboring gene 2,4-dienoyl-CoA reductase 1 Neighboring gene calbindin 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor 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 Interaction Database

Pathways from BioSystems

  • ATM Signaling Network in Development and Disease, organism-specific biosystem (from WikiPathways)
    ATM Signaling Network in Development and Disease, organism-specific biosystemThis pathway is modeled after Figure 4 in the article "The ATM signaling network in development and disease" (See Bibliography). When DNA is damaged, DDR begins to work on recuperating the damage th...
  • ATM Signaling Pathway, organism-specific biosystem (from WikiPathways)
    ATM Signaling Pathway, organism-specific biosystemAtaxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation o...
  • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    BARD1 signaling events, organism-specific biosystem
    BARD1 signaling events
  • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
    BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
    BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • DDX1 as a regulatory component of the Drosha microprocessor, organism-specific biosystem (from WikiPathways)
    DDX1 as a regulatory component of the Drosha microprocessor, organism-specific biosystemPosttranscriptional maturation is a critical step in microRNA (miRNA) biogenesis that determines mature miRNA levels. In addition to core components (Drosha and DGCR8 [DiGeorge syndrome critical regi...
  • DNA Damage Response, organism-specific biosystem (from WikiPathways)
    DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
  • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • HDR through MMEJ (alt-NHEJ), organism-specific biosystem (from REACTOME)
    HDR through MMEJ (alt-NHEJ), organism-specific biosystemHomology directed repair (HDR) through microhomology-mediated end joining (MMEJ) is an error prone process also known as alternative nonhomologous end joining (alt-NHEJ), although it does not involve...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, organism-specific biosystem (from WikiPathways)
    Homologous recombination, organism-specific biosystemHomologous recombination, also known as general recombination, is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical strands of DNA. Source:...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • MRN complex, organism-specific biosystem (from KEGG)
    MRN complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • MRN complex, conserved biosystem (from KEGG)
    MRN complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic recombination, organism-specific biosystem (from REACTOME)
    Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
  • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
  • Sensing of DNA Double Strand Breaks, organism-specific biosystem (from REACTOME)
    Sensing of DNA Double Strand Breaks, organism-specific biosystemDetection of DNA double-strand breaks (DSBs) involves sensor proteins of the MRN complex, composed of MRE11A, RAD50 and NBN (NBS1). Binding of the MRN complex to DNA DSBs activates ATM-dependent DNA ...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional activation, organism-specific biosystem
    Validated targets of C-MYC transcriptional activation
  • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
    miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10155, MGC87362

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ATP-dependent DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to ATP-dependent DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
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 double-strand break processing TAS
Traceable Author Statement
more info
 
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication 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 via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination TAS
Traceable Author Statement
more info
 
double-strand break repair via nonhomologous end joining 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 cell cycle IEA
Inferred from Electronic Annotation
more info
 
mitotic G2 DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
negative regulation of telomere capping IMP
Inferred from Mutant Phenotype
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 
positive regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of DNA-dependent DNA replication initiation TAS
Traceable Author Statement
more info
PubMed 
signal transduction in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
t-circle formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via telomere trimming IGI
Inferred from Genetic Interaction
more info
PubMed 
telomeric 3' overhang formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Mre11 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Mre11 complex IDA
Inferred from Direct Assay
more info
PubMed 
Mre11 complex TAS
Traceable Author Statement
more info
PubMed 
PML body IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
 
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 

General protein information

Preferred Names
nibrin
Names
Nijmegen breakage syndrome 1 (nibrin)
cell cycle regulatory protein p95
p95 protein of the MRE11/RAD50 complex

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    4948..56336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_158

mRNA and Protein(s)

  1. NM_001024688.2NP_001019859.1  nibrin isoform 2

    See identical proteins and their annotated locations for NP_001019859.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, as compared to variant 1. This results in translation initiation from a downstream AUG codon and an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC040519, BC136802, BX640816, DA634817
    Consensus CDS
    CCDS43753.1
    UniProtKB/Swiss-Prot
    O60934
    UniProtKB/TrEMBL
    A0A0C4DG07
    Conserved Domains (4) summary
    cd00027
    Location:32100
    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 ...
    pfam08599
    Location:601663
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:135243
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl26761
    Location:420564
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
  2. NM_002485.4NP_002476.2  nibrin isoform 1

    See identical proteins and their annotated locations for NP_002476.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC040519, BC071590, BX640816
    Consensus CDS
    CCDS6249.1
    UniProtKB/Swiss-Prot
    O60934
    Related
    ENSP00000265433.3, ENST00000265433.7
    Conserved Domains (4) summary
    cd00027
    Location:114182
    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
    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:683745
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:216325
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017013462.2XP_016868951.1  nibrin isoform X3

    Conserved Domains (2) summary
    pfam08599
    Location:390452
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:132
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
  2. XM_024447165.1XP_024302933.1  nibrin isoform X3

    Conserved Domains (2) summary
    pfam08599
    Location:390452
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:132
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
  3. XM_017013460.1XP_016868949.1  nibrin isoform X3

    Conserved Domains (2) summary
    pfam08599
    Location:390452
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:132
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
  4. XM_024447163.1XP_024302931.1  nibrin isoform X1

    Related
    ENSP00000386924.1, ENST00000409330.5
    Conserved Domains (4) summary
    cd00027
    Location:32100
    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 ...
    pfam08599
    Location:601663
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:135243
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl26761
    Location:420564
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
  5. XM_011517045.1XP_011515347.1  nibrin isoform X1

    See identical proteins and their annotated locations for XP_011515347.1

    UniProtKB/Swiss-Prot
    O60934
    UniProtKB/TrEMBL
    A0A0C4DG07
    Conserved Domains (4) summary
    cd00027
    Location:32100
    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 ...
    pfam08599
    Location:601663
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:135243
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl26761
    Location:420564
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
  6. XM_024447164.1XP_024302932.1  nibrin isoform X1

    Conserved Domains (4) summary
    cd00027
    Location:32100
    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 ...
    pfam08599
    Location:601663
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:135243
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl26761
    Location:420564
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
  7. XM_011517046.1XP_011515348.1  nibrin isoform X2

    Conserved Domains (3) summary
    cd00027
    Location:114182
    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
    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 ...
    pfam16508
    Location:216325
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
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