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NBR1 NBR1 autophagy cargo receptor [ Homo sapiens (human) ]

Gene ID: 4077, updated on 3-Nov-2024

Summary

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Official Symbol
NBR1provided by HGNC
Official Full Name
NBR1 autophagy cargo receptorprovided by HGNC
Primary source
HGNC:HGNC:6746
See related
Ensembl:ENSG00000188554 MIM:166945; AllianceGenome:HGNC:6746
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
IAI3B; M17S2; MIG19; 1A1-3B
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 41.5), thyroid (RPKM 32.2) and 25 other tissues See more
Orthologs
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Genomic context

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See NBR1 in Genome Data Viewer
Location:
17q21.31
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43170409..43211688)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44026006..44070466)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41322426..41363707)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRCA1 DNA repair associated Neighboring gene neighbor of BRCA1 lncRNA 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:41298599-41299208 Neighboring gene uncharacterized LOC101929767 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 29 Neighboring gene BRCA1P1 intergenic recombination region Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41311429-41311959 Neighboring gene uncharacterized LOC124900391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12239 Neighboring gene BRCA1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 10579 Neighboring gene transmembrane protein 106A Neighboring gene ReSE screen-validated silencer GRCh37_chr17:41379300-41379489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41381411-41382085 Neighboring gene coiled-coil domain containing 200

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Autophagic adapter protein NBR1 is localized in Lewy bodies and glial cytoplasmic inclusions and is involved in aggregate formation in α-synucleinopathy. Odagiri S, et al. Acta Neuropathol, 2012 Aug. PMID 22484440
  2. NBR1 acts as an autophagy receptor for peroxisomes. Deosaran E, et al. J Cell Sci, 2013 Feb 15. PMID 23239026
  3. A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1. Campbell IG, et al. Hum Mol Genet, 1994 Apr. PMID 8069304
  4. p38(MAPK)-regulated induction of p62 and NBR1 after photodynamic therapy promotes autophagic clearance of ubiquitin aggregates and reduces reactive oxygen species levels by supporting Nrf2-antioxidant signaling. Rubio N, et al. Free Radic Biol Med, 2014 Feb. PMID 24269898
  5. The influence of rs139416141 in neighbor of Brca1 gene (NBR1) on bone mineral density in postmenopausal Chinese women. Zhang Y, et al. Acta Biochim Biophys Sin (Shanghai), 2020 Sep 8. PMID 32577726

See all (139) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NBR1-mediated autophagic degradation of caspase 8 protects vascular endothelial cells against arsenite-induced apoptotic cell death.
    Title: NBR1-mediated autophagic degradation of caspase 8 protects vascular endothelial cells against arsenite-induced apoptotic cell death.
  2. NBR1 mediates autophagic degradation of IRF3 to negatively regulate type I interferon production.
    Title: NBR1 mediates autophagic degradation of IRF3 to negatively regulate type I interferon production.
  3. Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors.
    Title: Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors.
  4. Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.
    Title: Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.
  5. Reconstitution defines the roles of p62, NBR1 and TAX1BP1 in ubiquitin condensate formation and autophagy initiation.
    Title: Reconstitution defines the roles of p62, NBR1 and TAX1BP1 in ubiquitin condensate formation and autophagy initiation.
  6. The influence of rs139416141 in neighbor of Brca1 gene (NBR1) on bone mineral density in postmenopausal Chinese women.
    Title: The influence of rs139416141 in neighbor of Brca1 gene (NBR1) on bone mineral density in postmenopausal Chinese women.
  7. An increase in p62/NBR1 levels in melioidosis patients of Sri Lanka exhibit a characteristic of potential host biomarker.
    Title: An increase in p62/NBR1 levels in melioidosis patients of Sri Lanka exhibit a characteristic of potential host biomarker.
  8. Depletion of NBR1 in urothelial carcinoma cells enhances rapamycin-induced apoptosis through impaired autophagy and mitochondrial dysfunction.
    Title: Depletion of NBR1 in urothelial carcinoma cells enhances rapamycin-induced apoptosis through impaired autophagy and mitochondrial dysfunction.
  9. NBR1 is not required for PARK2-dependent mitophagy.
    Title: NBR1 is dispensable for PARK2-mediated mitophagy regardless of the presence or absence of SQSTM1.
  10. The NBR1 depletion impairs FA turnover and decreases targeting of autophagosomes to FAs, whereas ectopic expression of autophagy-competent, but not autophagy-defective, NBR1 enhances FA disassembly and reduces FA lifetime during migration.
    Title: NBR1 enables autophagy-dependent focal adhesion turnover.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ55359, FLJ98272, KIAA0049

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mitogen-activated protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in macroautophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in macroautophagy IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of stress-activated MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in M band IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with autophagosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in late endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in mitochondrial intermembrane space IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in peroxisomal membrane TAS
Traceable Author Statement
more info
  
is_active_in phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
next to BRCA1 gene 1 protein
Names
B-box protein
cell migration-inducing gene 19 protein
membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)
migration-inducing protein 19
neighbor of BRCA1 gene 1

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)

  1. NM_001291571.2 → NP_001278500.1  next to BRCA1 gene 1 protein isoform b

    See identical proteins and their annotated locations for NP_001278500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC024051, BC009808, HY045337
    Consensus CDS
    CCDS77037.1
    UniProtKB/TrEMBL
    A8K1U0
    Related
    ENSP00000467816.1, ENST00000589872.1
    Conserved Domains (4) summary
    cd06396
    Location:5 → 85
    PB1_NBR1; The PB1 domain is an essential part of NBR1 protein, next to BRCA1, a scaffold protein mediating specific protein-protein interaction with both titin protein kinase and with another scaffold protein p62. A canonical PB1-PB1 interaction, which involves ...
    cd02340
    Location:215 → 259
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14947
    Location:369 → 479
    NBR1_like; Functionally uncharacterized domain in neighbor of Brca1 Gene 1 and related proteins
    pfam10883
    Location:288 → 324
    DUF2681; Protein of unknown function (DUF2681)

  2. NM_001291572.2 → NP_001278501.1  next to BRCA1 gene 1 protein isoform c

    See identical proteins and their annotated locations for NP_001278501.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, and also lacks two alternate exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AK299328, AW874218, AY450308
    Consensus CDS
    CCDS77038.1
    UniProtKB/TrEMBL
    A8K1U0, B7Z5R6
    Related
    ENSP00000437545.1, ENST00000542611.5
    Conserved Domains (4) summary
    cd02340
    Location:194 → 238
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14947
    Location:348 → 458
    NBR1_like; Functionally uncharacterized domain in neighbor of Brca1 Gene 1 and related proteins
    pfam10883
    Location:267 → 303
    DUF2681; Protein of unknown function (DUF2681)
    cl02720
    Location:5 → 64
    PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...

  3. NM_005899.5 → NP_005890.2  next to BRCA1 gene 1 protein isoform a

    See identical proteins and their annotated locations for NP_005890.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 3 encode isoform a.
    Source sequence(s)
    AW874218, AY450308, HY045337
    Consensus CDS
    CCDS45694.1
    UniProtKB/Swiss-Prot
    Q13173, Q14596, Q15026, Q5J7Q8, Q96GB6, Q9NRF7
    UniProtKB/TrEMBL
    A8K1U0
    Related
    ENSP00000466667.1, ENST00000590996.6
    Conserved Domains (4) summary
    cd06396
    Location:5 → 85
    PB1_NBR1; The PB1 domain is an essential part of NBR1 protein, next to BRCA1, a scaffold protein mediating specific protein-protein interaction with both titin protein kinase and with another scaffold protein p62. A canonical PB1-PB1 interaction, which involves ...
    cd02340
    Location:215 → 259
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14319
    Location:916 → 954
    UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
    pfam16158
    Location:379 → 478
    N_BRCA1_IG; Ig-like domain from next to BRCA1 gene

  4. NM_031862.4 → NP_114068.1  next to BRCA1 gene 1 protein isoform a

    See identical proteins and their annotated locations for NP_114068.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode isoform a.
    Source sequence(s)
    AC060780, AW874218, D30756, DB081342
    Consensus CDS
    CCDS45694.1
    UniProtKB/Swiss-Prot
    Q13173, Q14596, Q15026, Q5J7Q8, Q96GB6, Q9NRF7
    UniProtKB/TrEMBL
    A8K1U0
    Related
    ENSP00000343479.5, ENST00000341165.10
    Conserved Domains (4) summary
    cd06396
    Location:5 → 85
    PB1_NBR1; The PB1 domain is an essential part of NBR1 protein, next to BRCA1, a scaffold protein mediating specific protein-protein interaction with both titin protein kinase and with another scaffold protein p62. A canonical PB1-PB1 interaction, which involves ...
    cd02340
    Location:215 → 259
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14319
    Location:916 → 954
    UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
    pfam16158
    Location:379 → 478
    N_BRCA1_IG; Ig-like domain from next to BRCA1 gene

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    43170409..43211688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524813.3 → XP_011523115.1  next to BRCA1 gene 1 protein isoform X1

    See identical proteins and their annotated locations for XP_011523115.1

    UniProtKB/Swiss-Prot
    Q13173, Q14596, Q15026, Q5J7Q8, Q96GB6, Q9NRF7
    UniProtKB/TrEMBL
    A8K1U0
    Conserved Domains (4) summary
    cd06396
    Location:5 → 85
    PB1_NBR1; The PB1 domain is an essential part of NBR1 protein, next to BRCA1, a scaffold protein mediating specific protein-protein interaction with both titin protein kinase and with another scaffold protein p62. A canonical PB1-PB1 interaction, which involves ...
    cd02340
    Location:215 → 259
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14319
    Location:916 → 954
    UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
    pfam16158
    Location:379 → 478
    N_BRCA1_IG; Ig-like domain from next to BRCA1 gene

  2. XM_017024643.3 → XP_016880132.1  next to BRCA1 gene 1 protein isoform X2

    UniProtKB/TrEMBL
    A8K1U0
    Conserved Domains (4) summary
    cd06396
    Location:5 → 85
    PB1_NBR1; The PB1 domain is an essential part of NBR1 protein, next to BRCA1, a scaffold protein mediating specific protein-protein interaction with both titin protein kinase and with another scaffold protein p62. A canonical PB1-PB1 interaction, which involves ...
    cd02340
    Location:215 → 259
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14319
    Location:846 → 884
    UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
    pfam16158
    Location:309 → 408
    N_BRCA1_IG; Ig-like domain from next to BRCA1 gene

  3. XM_024450749.2 → XP_024306517.1  next to BRCA1 gene 1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q13173, Q14596, Q15026, Q5J7Q8, Q96GB6, Q9NRF7
    UniProtKB/TrEMBL
    A8K1U0
    Conserved Domains (4) summary
    cd06396
    Location:5 → 85
    PB1_NBR1; The PB1 domain is an essential part of NBR1 protein, next to BRCA1, a scaffold protein mediating specific protein-protein interaction with both titin protein kinase and with another scaffold protein p62. A canonical PB1-PB1 interaction, which involves ...
    cd02340
    Location:215 → 259
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14319
    Location:916 → 954
    UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
    pfam16158
    Location:379 → 478
    N_BRCA1_IG; Ig-like domain from next to BRCA1 gene

  4. XM_047436061.1 → XP_047292017.1  next to BRCA1 gene 1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q13173, Q14596, Q15026, Q5J7Q8, Q96GB6, Q9NRF7

  5. XM_006721903.3 → XP_006721966.1  next to BRCA1 gene 1 protein isoform X2

    UniProtKB/TrEMBL
    A8K1U0
    Conserved Domains (4) summary
    cd06396
    Location:5 → 85
    PB1_NBR1; The PB1 domain is an essential part of NBR1 protein, next to BRCA1, a scaffold protein mediating specific protein-protein interaction with both titin protein kinase and with another scaffold protein p62. A canonical PB1-PB1 interaction, which involves ...
    cd02340
    Location:215 → 259
    ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
    cd14319
    Location:846 → 884
    UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
    pfam16158
    Location:309 → 408
    N_BRCA1_IG; Ig-like domain from next to BRCA1 gene

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44026006..44070466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316114.1 → XP_054172089.1  next to BRCA1 gene 1 protein isoform X1

  2. XM_054316118.1 → XP_054172093.1  next to BRCA1 gene 1 protein isoform X2

  3. XM_054316115.1 → XP_054172090.1  next to BRCA1 gene 1 protein isoform X1

  4. XM_054316116.1 → XP_054172091.1  next to BRCA1 gene 1 protein isoform X1

  5. XM_054316117.1 → XP_054172092.1  next to BRCA1 gene 1 protein isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_031858.2: Suppressed sequence

    Description
    NM_031858.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14596.3 GenPept UniProtKB/Swiss-Prot:Q14596

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