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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
NBR1 is not required for PARK2-dependent mitophagy.
Title: NBR1 is dispensable for PARK2-mediated mitophagy regardless of the presence or absence of SQSTM1.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D17S1970 (e-PCR)
- UniSTS:81438

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

G01753 (e-PCR)
- UniSTS:19797

GDB:439146 (e-PCR)
- UniSTS:157289

RH47766 (e-PCR)
- UniSTS:3434

D1S1423 (e-PCR)
- UniSTS:149619

RH36905 (e-PCR)
- UniSTS:87932

RH80030 (e-PCR)
- UniSTS:87680

G44334 (e-PCR)
- UniSTS:95121

WI-21206 (e-PCR)
- UniSTS:47800

D17S1221 (e-PCR)
- UniSTS:60879

RH25285 (e-PCR)
- UniSTS:34260

D17S1461E (e-PCR)
- UniSTS:150502

STS-U25764 (e-PCR)
- UniSTS:70137

RH70398 (e-PCR)
- UniSTS:82425

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 more info	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)

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)
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 ...
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
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

43170409..43211688

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q13173, Q14596, Q15026, Q5J7Q8, Q96GB6, Q9NRF7
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

NC_060941.1 Alternate T2T-CHM13v2.0

Range

44026006..44070466

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316114.1 → XP_054172089.1 next to BRCA1 gene 1 protein isoform X1
XM_054316118.1 → XP_054172093.1 next to BRCA1 gene 1 protein isoform X2
XM_054316115.1 → XP_054172090.1 next to BRCA1 gene 1 protein isoform X1
XM_054316116.1 → XP_054172091.1 next to BRCA1 gene 1 protein isoform X1
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

NM_031858.2: Suppressed sequence

Description

NM_031858.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.