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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
  • 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
  • Next To BRCA1 Gene 1 Protein 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 Inclusion Body Myositis and Synucleinopathy. Among its related pathways are Mitophagy - animal. GO annotations related to this gene include ubiquitin binding and mitogen-activated protein kinase binding.

UniProtKB/Swiss-Prot for NBR1 Gene

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

Gene Wiki entry for NBR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBR1 Gene

Genomics for NBR1 Gene

Regulatory Elements for NBR1 Gene

Enhancers for NBR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G043366 1.7 Ensembl ENCODE dbSUPER 20.7 +198.2 198244 4.0 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 SSRP1 NBR2 DHX8 HMGN1P29 LINC00910 ASB16-AS1 ENSG00000267340 ENSG00000267002 PSME3 NBR1 MEOX1
GH17G043359 1.4 ENCODE dbSUPER 20.7 +190.6 190593 3.8 HNRNPUL1 PKNOX1 MLX ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 NBR2 NBR1 LINC00910 DHX8 HMGN1P29 ASB16-AS1 PSME3 RPL29P31 ARL4D PSMC3IP
GH17G042266 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -898.0 -898032 12.8 MLX CREB3L1 AGO1 DMAP1 FEZF1 YBX1 YY1 SLC30A9 ZNF263 SP3 CNTNAP1 TUBG2 NBR1 ENSG00000259623 ENSG00000267765 STAT5B HSD17B1P1 DHX58 STAT5A STAT3
GH17G043168 1.7 FANTOM5 ENCODE dbSUPER 13.1 +0.6 596 5.0 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 SSRP1 GLIS1 NBR2 TMEM106A NBR1 ENSG00000267002
GH17G043322 1.7 Ensembl ENCODE dbSUPER 12.4 +152.7 152692 1.6 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 ENSG00000267340 ENSG00000267002 ASB16-AS1 HMGN1P29 DHX8 NBR2 ENSG00000267765 HSD17B1 CCR10 LINC00910
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NBR1 on UCSC Golden Path with GeneCards custom track

Promoters for NBR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094518 229 3801 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 SSRP1 GLIS1

Transcription factor binding sites by QIAGEN in the NBR1 gene promoter:

Genomic Location for NBR1 Gene

Chromosome:
17
Start:
43,170,471 bp from pter
End:
43,211,689 bp from pter
Size:
41,219 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, posLast=515515, Lys537, posLast=627627, and Lys887
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NBR1 Gene

Domains & Families for NBR1 Gene

Gene Families for NBR1 Gene

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.

Gene Ontology (GO) - Molecular Function for NBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 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:

Animal Model Products

CRISPR Products

miRNA for NBR1 Gene

Inhibitory RNA Products

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
extracellular 5
nucleus 5
cytosol 5
lysosome 4
endosome 4
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 pre-autophagosomal structure IBA --
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

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 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

Unigene Clusters for NBR1 Gene

Neighbor of BRCA1 gene 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
NBR1

Expression for NBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for NBR1 Gene



Protein tissue co-expression partners for NBR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NBR1 Gene:

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

Primer Products

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 34 35
  • 98.62 (n)
cow
(Bos Taurus)
Mammalia NBR1 34 35
  • 90.03 (n)
dog
(Canis familiaris)
Mammalia NBR1 34 35
  • 88.87 (n)
rat
(Rattus norvegicus)
Mammalia Nbr1 34
  • 86.63 (n)
mouse
(Mus musculus)
Mammalia Nbr1 34 16 35
  • 86.42 (n)
oppossum
(Monodelphis domestica)
Mammalia NBR1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NBR1 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves NBR1 34 35
  • 64.34 (n)
lizard
(Anolis carolinensis)
Reptilia NBR1 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbr1 34
  • 61.48 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC555713 34
  • 56.22 (n)
nbr1 35
  • 39 (a)
OneToMany
NBR1 (2 of 2) 35
  • 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)

Paralogs for NBR1 Gene

No data available for Paralogs for NBR1 Gene

Variants for NBR1 Gene

Sequence variations from dbSNP and Humsavar for NBR1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000049412 -- 43,182,501(+) CAGGC(A/G)TGAGC intron-variant
rs1000162940 -- 43,209,529(+) CCCCC(A/G)TCATC intron-variant
rs1000172817 -- 43,197,983(+) CCCAT(C/T)TCTAC intron-variant
rs1000326278 -- 43,190,961(+) AAGAA(A/G)CTAAA intron-variant
rs1000345962 -- 43,170,561(+) TAAGA(A/C)GAGGT intron-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for NBR1 Gene

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

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

Disorders for NBR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
inclusion body myositis
  • distal myopathy with rimmed vacuoles
synucleinopathy
  • alpha synucleinopathies
- elite association - COSMIC cancer census association via MalaCards
Search NBR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NBR1

Genetic Association Database (GAD)
NBR1
Human Genome Epidemiology (HuGE) Navigator
NBR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBR1
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 I.G. … Black D.M. (Hum. Mol. Genet. 1994) 2 3 4 64
  2. The receptor proteins: pivotal roles in selective autophagy. (PMID: 26112016) Xu Z. … Cao Y. (Acta Biochim. Biophys. Sin. (Shanghai) 2015) 2 3 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. A role for NBR1 in autophagosomal degradation of ubiquitinated substrates. (PMID: 19250911) Kirkin V. … Johansen T. (Mol. Cell 2009) 3 4 64
  5. Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover. (PMID: 19427866) Waters S. … Gautel M. (FEBS Lett. 2009) 3 4 64

Products for NBR1 Gene

  • Addgene plasmids for NBR1

Sources for NBR1 Gene

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