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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NBR1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43170409..43211688)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44026006..44070466)
    105.20220307 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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001291571.2NP_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:585
      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:215259
      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:369479
      NBR1_like; Functionally uncharacterized domain in neighbor of Brca1 Gene 1 and related proteins
      pfam10883
      Location:288324
      DUF2681; Protein of unknown function (DUF2681)
    2. NM_001291572.2NP_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:194238
      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:348458
      NBR1_like; Functionally uncharacterized domain in neighbor of Brca1 Gene 1 and related proteins
      pfam10883
      Location:267303
      DUF2681; Protein of unknown function (DUF2681)
      cl02720
      Location:564
      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_005899.5NP_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:585
      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:215259
      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:916954
      UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
      pfam16158
      Location:379478
      N_BRCA1_IG; Ig-like domain from next to BRCA1 gene
    4. NM_031862.4NP_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:585
      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:215259
      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:916954
      UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
      pfam16158
      Location:379478
      N_BRCA1_IG; Ig-like domain from next to BRCA1 gene

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_011524813.3XP_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:585
      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:215259
      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:916954
      UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
      pfam16158
      Location:379478
      N_BRCA1_IG; Ig-like domain from next to BRCA1 gene
    2. XM_017024643.3XP_016880132.1  next to BRCA1 gene 1 protein isoform X2

      UniProtKB/TrEMBL
      A8K1U0
      Conserved Domains (4) summary
      cd06396
      Location:585
      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:215259
      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:846884
      UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
      pfam16158
      Location:309408
      N_BRCA1_IG; Ig-like domain from next to BRCA1 gene
    3. XM_024450749.2XP_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:585
      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:215259
      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:916954
      UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
      pfam16158
      Location:379478
      N_BRCA1_IG; Ig-like domain from next to BRCA1 gene
    4. XM_047436061.1XP_047292017.1  next to BRCA1 gene 1 protein isoform X1

      UniProtKB/Swiss-Prot
      Q13173, Q14596, Q15026, Q5J7Q8, Q96GB6, Q9NRF7
    5. XM_006721903.3XP_006721966.1  next to BRCA1 gene 1 protein isoform X2

      UniProtKB/TrEMBL
      A8K1U0
      Conserved Domains (4) summary
      cd06396
      Location:585
      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:215259
      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:846884
      UBA_NBR1; UBA domain of next to BRCA1 gene 1 protein (NBR1) and similar proteins
      pfam16158
      Location:309408
      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_054316114.1XP_054172089.1  next to BRCA1 gene 1 protein isoform X1

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

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

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

    5. XM_054316117.1XP_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.