The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubi... See more...

Aliases for NBR1 Gene

Aliases for NBR1 Gene

  • NBR1 Autophagy Cargo Receptor 2 3 5
  • Membrane Component, Chromosome 17, Surface Marker 2 (Ovarian Carcinoma Antigen CA125) 2 3
  • Cell Migration-Inducing Gene 19 Protein 3 4
  • Next To BRCA1 Gene 1 Protein 3 4
  • Neighbor Of BRCA1 Gene 1 2 3
  • M17S2 3 4
  • Membrane Component Chromosome 17 Surface Marker 2 4
  • Neighbor Of BRCA1 Gene 1 Protein 4
  • Migration-Inducing Protein 19 3
  • Protein 1A1-3B 4
  • B-Box Protein 3
  • KIAA0049 4
  • 1A1-3B 3
  • IAI3B 3
  • MIG19 3
  • 1A13B 4

External Ids for NBR1 Gene

Previous HGNC Symbols for NBR1 Gene

  • M17S2

Previous GeneCards Identifiers for NBR1 Gene

  • GC17P9L0001
  • GC17P038578
  • GC17P041322
  • GC17P037088

Summaries for NBR1 Gene

Entrez Gene Summary for NBR1 Gene

  • The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

GeneCards Summary for NBR1 Gene

NBR1 (NBR1 Autophagy Cargo Receptor) is a Protein Coding gene. Diseases associated with NBR1 include Bilateral Breast Cancer and Inclusion Body Myositis. Among its related pathways are Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include ubiquitin binding and mitogen-activated protein kinase binding.

UniProtKB/Swiss-Prot Summary for NBR1 Gene

  • Acts probably as a receptor for selective autophagosomal degradation of ubiquitinated targets.

Gene Wiki entry for NBR1 Gene

Rfam classification for NBR1 Gene

  • Neighbour of BRCA1 gene 2 converved region

Additional gene information for NBR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for NBR1 Gene

Genomics for NBR1 Gene

GeneHancer (GH) Regulatory Elements for NBR1 Gene

Promoters and enhancers for NBR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBR1

Top Transcription factor binding sites by QIAGEN in the NBR1 gene promoter:
  • p53
  • SRF

Genomic Locations for NBR1 Gene

Genomic Locations for NBR1 Gene
chr17:43,170,471-43,211,689
(GRCh38/hg38)
Size:
41,219 bases
Orientation:
Plus strand
chr17:41,322,498-41,363,708
(GRCh37/hg19)
Size:
41,211 bases
Orientation:
Plus strand

Genomic View for NBR1 Gene

Genes around NBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBR1 Gene

Proteins for NBR1 Gene

  • Protein details for NBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14596-NBR1_HUMAN
    Recommended name:
    Next to BRCA1 gene 1 protein
    Protein Accession:
    Q14596
    Secondary Accessions:
    • Q13173
    • Q15026
    • Q5J7Q8
    • Q96GB6
    • Q9NRF7

    Protein attributes for NBR1 Gene

    Size:
    966 amino acids
    Molecular mass:
    107413 Da
    Quaternary structure:
    • Homooligomer and heterooligomer. Interacts with TRIM55 (By similarity). Interacts with SQSTM1, titin/TTN, RNF29, USP8, SQSTM1, MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2. Binds to ubiquitin and ubiquitinated proteins.
    SequenceCaution:
    • Sequence=BAA06417.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NBR1 Gene

    Alternative splice isoforms for NBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBR1 Gene

Post-translational modifications for NBR1 Gene

  • Ubiquitination at Lys464, Lys499, Lys515, Lys537, Lys627, and Lys887
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NBR1_HUMAN (363)

Antibody Products

  • Abcam antibodies for NBR1
  • Boster Bio Antibodies for NBR1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NBR1

No data available for DME Specific Peptides for NBR1 Gene

Domains & Families for NBR1 Gene

Gene Families for NBR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NBR1 Gene

Blocks:
  • Ubiquitin-associated domain
  • Zn-finger, ZZ type
  • Octicosapeptide/Phox/Bem1p
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NBR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55105, highly similar to Next to BRCA1 gene 1 protein (B7Z4J4_HUMAN)
  • cDNA FLJ55359, highly similar to Next to BRCA1 gene 1 protein (B7Z5R6_HUMAN)
  • Protein 1A1-3B (NBR1_HUMAN)
  • Neighbor of BRCA1 gene 1 (Q3LRI0_HUMAN)
  • Neighbor of BRCA1 gene 1 (Q3LRI6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14596

UniProtKB/Swiss-Prot:

NBR1_HUMAN :
  • The PB1 domain mediates interaction with SQSTM1.
Domain:
  • The PB1 domain mediates interaction with SQSTM1.
genes like me logo Genes that share domains with NBR1: view

Function for NBR1 Gene

Molecular function for NBR1 Gene

UniProtKB/Swiss-Prot Function:
Acts probably as a receptor for selective autophagosomal degradation of ubiquitinated targets.

Phenotypes From GWAS Catalog for NBR1 Gene

Gene Ontology (GO) - Molecular Function for NBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 19250911
GO:0008270 zinc ion binding IEA --
GO:0043130 ubiquitin binding IDA 19427866
GO:0046872 metal ion binding IEA --
GO:0051019 mitogen-activated protein kinase binding ISS --
genes like me logo Genes that share ontologies with NBR1: view
genes like me logo Genes that share phenotypes with NBR1: view

Animal Models for NBR1 Gene

MGI Knock Outs for NBR1:
  • Nbr1 Nbr1<tm1Whca>
  • Nbr1 Nbr1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for NBR1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBR1

Clone Products

  • Addgene plasmids for NBR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NBR1 Gene

Localization for NBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBR1 Gene

Cytoplasm. Cytoplasmic vesicle, autophagosome. Lysosome. Cytoplasm, myofibril, sarcomere, M line. Note=In cardiac muscles localizes to the sarcomeric M line (By similarity). Is targeted to lysosomes for degradation (PubMed:19250911). {ECO:0000250 UniProtKB:Q501R9, ECO:0000269 PubMed:19250911}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NBR1 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 4
lysosome 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 phagophore assembly site IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 colocalizes_with mitochondrion IDA 21296869
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with NBR1: view

Pathways & Interactions for NBR1 Gene

PathCards logo

SuperPathways for NBR1 Gene

SuperPathway Contained pathways
1 Mitophagy - animal
genes like me logo Genes that share pathways with NBR1: view

Pathways by source for NBR1 Gene

1 KEGG pathway for NBR1 Gene

SIGNOR curated interactions for NBR1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016236 macroautophagy IDA 19250911
GO:0030500 regulation of bone mineralization ISS --
GO:0032872 regulation of stress-activated MAPK cascade ISS --
GO:0045668 negative regulation of osteoblast differentiation ISS --
GO:0051259 protein complex oligomerization IDA 19250911
genes like me logo Genes that share ontologies with NBR1: view

Drugs & Compounds for NBR1 Gene

No Compound Related Data Available

Transcripts for NBR1 Gene

mRNA/cDNA for NBR1 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
1 RNACentral transcripts :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBR1

Clone Products

  • Addgene plasmids for NBR1

Alternative Splicing Database (ASD) splice patterns (SP) for NBR1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12:
SP13: - - - -
SP14: - - - - - - -
SP15: - - -
SP16:
SP17:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b
SP1:
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6: -
SP7:
SP8: - -
SP9: - -
SP10: - - -
SP11:
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for NBR1 Gene

GeneLoc Exon Structure for
NBR1

Expression for NBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NBR1 Gene

This gene is overexpressed in Testis (37.1) and Tlymphocyte (28.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBR1 Gene



Protein tissue co-expression partners for NBR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBR1

SOURCE GeneReport for Unigene cluster for NBR1 Gene:

Hs.277721

Evidence on tissue expression from TISSUES for NBR1 Gene

  • Nervous system(4.6)
  • Bone marrow(4.2)
  • Lung(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with NBR1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBR1 Gene

Orthologs for NBR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NBR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NBR1 31 30
  • 98.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NBR1 31 30
  • 90.03 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NBR1 31 30
  • 88.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nbr1 30
  • 86.63 (n)
mouse
(Mus musculus)
Mammalia Nbr1 17 31 30
  • 86.42 (n)
oppossum
(Monodelphis domestica)
Mammalia NBR1 31
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NBR1 31
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves NBR1 31 30
  • 64.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NBR1 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbr1 30
  • 61.48 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC555713 30
  • 56.22 (n)
nbr1 31
  • 39 (a)
OneToMany
NBR1 (2 of 2) 31
  • 39 (a)
OneToMany
Species where no ortholog for NBR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NBR1 Gene

ENSEMBL:
Gene Tree for NBR1 (if available)
TreeFam:
Gene Tree for NBR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NBR1: view image

Paralogs for NBR1 Gene

No data available for Paralogs for NBR1 Gene

Variants for NBR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NBR1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
735744 Benign: not provided 43,191,399(+) T/C SYNONYMOUS_VARIANT
746435 Likely Benign: not provided 43,189,127(+) T/C INTRON_VARIANT
774233 Benign: not provided 43,190,720(+) G/A SYNONYMOUS_VARIANT
777182 Benign: not provided 43,191,498(+) C/T SYNONYMOUS_VARIANT
782155 Benign: not provided 43,191,443(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NBR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NBR1 Gene

Variant ID Type Subtype PubMed ID
esv2672005 CNV deletion 23128226
esv2672913 CNV deletion 23128226
esv33998 OTHER inversion 15654335
esv3640621 CNV loss 21293372
esv3640622 CNV loss 21293372
nsv1127574 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv510712 CNV deletion 20534489

Variation tolerance for NBR1 Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.10; 93.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBR1 Gene

Disorders for NBR1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NBR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bilateral breast cancer
  • bilateral breast carcinoma
inclusion body myositis
  • ibm
vici syndrome
  • vicis
ovarian cancer
  • ovarian cancer, somatic
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards
Search NBR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NBR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NBR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBR1 Gene

Publications for NBR1 Gene

  1. A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1. (PMID: 8069304) Campbell IG … Solomon E (Human molecular genetics 1994) 2 3 4 54
  2. The receptor proteins: pivotal roles in selective autophagy. (PMID: 26112016) Xu Z … Cao Y (Acta biochimica et biophysica Sinica 2015) 2 3 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. A role for NBR1 in autophagosomal degradation of ubiquitinated substrates. (PMID: 19250911) Kirkin V … Johansen T (Molecular cell 2009) 3 4 54
  5. Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover. (PMID: 19427866) Waters S … Gautel M (FEBS letters 2009) 3 4 54

Products for NBR1 Gene