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

Gene ID: 4077, updated on 7-Jun-2020

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
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

Genomic context

See NBR1 in Genome Data Viewer
Location:
17q21.31
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (43170310..43211688)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41322498..41363707)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929767 Neighboring gene BRCA1P1 intergenic recombination region Neighboring gene BRCA1 pseudogene 1 Neighboring gene transmembrane protein 106A Neighboring gene Sharpr-MPRA regulatory region 10579 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ55359, FLJ98272, KIAA0049

Gene Ontology Provided by GOA

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

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/Swiss-Prot
    Q14596
    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/Swiss-Prot
    Q14596
    UniProtKB/TrEMBL
    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
    Q14596
    UniProtKB/TrEMBL
    A0A024R1V3
    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
    Q14596
    UniProtKB/TrEMBL
    A0A024R1V3
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    43170310..43211688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450749.1XP_024306517.1  next to BRCA1 gene 1 protein isoform X1

    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_024450750.1XP_024306518.1  next to BRCA1 gene 1 protein isoform X2

    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_017024644.1XP_016880133.1  next to BRCA1 gene 1 protein isoform X2

    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
  4. XM_011524813.2XP_011523115.1  next to BRCA1 gene 1 protein isoform X1

    See identical proteins and their annotated locations for XP_011523115.1

    UniProtKB/Swiss-Prot
    Q14596
    UniProtKB/TrEMBL
    A0A024R1V3
    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
  5. XM_017024643.2XP_016880132.1  next to BRCA1 gene 1 protein isoform X2

    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
  6. XM_017024642.1XP_016880131.1  next to BRCA1 gene 1 protein isoform X1

    UniProtKB/Swiss-Prot
    Q14596
    UniProtKB/TrEMBL
    A0A024R1V3
    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
  7. XM_006721903.2XP_006721966.1  next to BRCA1 gene 1 protein isoform X2

    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

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.
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