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BROX BRO1 domain and CAAX motif containing [ Homo sapiens (human) ]

Gene ID: 148362, updated on 3-Apr-2024

Summary

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Official Symbol
BROXprovided by HGNC
Official Full Name
BRO1 domain and CAAX motif containingprovided by HGNC
Primary source
HGNC:HGNC:26512
See related
Ensembl:ENSG00000162819 AllianceGenome:HGNC:26512
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C1orf58
Summary
Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in colon (RPKM 10.5), brain (RPKM 10.3) and 25 other tissues See more
Orthologs
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Genomic context

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See BROX in Genome Data Viewer
Location:
1q41
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222712564..222735187)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (221946320..221968943)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222885906..222908529)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MIA SH3 domain ER export factor 3 Neighboring gene prefoldin subunit 5-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:222816645-222817522 and GRCh37_chr1:222817523-222818398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2581 Neighboring gene axin interactor, dorsalization associated Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5183 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:222885601-222886515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2582 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5205 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:222909786-222910327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1836 Neighboring gene family with sequence similarity 177 member B Neighboring gene uncharacterized LOC105372984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2584

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
  • 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. BROX haploinsufficiency in familial nonmedullary thyroid cancer. Pasquali D, et al. J Endocrinol Invest, 2021 Jan. PMID 32385852
  2. The ESCRT machinery counteracts Nesprin-2G-mediated mechanical forces during nuclear envelope repair. Wallis SS, et al. Dev Cell, 2021 Dec 6. PMID 34818527, Free PMC Article
  3. Two distinct binding modes define the interaction of Brox with the C-terminal tails of CHMP5 and CHMP4B. Mu R, et al. Structure, 2012 May 9. PMID 22484091, Free PMC Article
  4. Brox, a novel farnesylated Bro1 domain-containing protein that associates with charged multivesicular body protein 4 (CHMP4). Ichioka F, et al. FEBS J, 2008 Feb. PMID 18190528
  5. The neuronal-specific SGK1.1 (SGK1_v2) kinase as a transcriptional modulator of BAG4, Brox, and PPP1CB genes expression. González-Fernández R, et al. Int J Mol Sci, 2015 Apr 2. PMID 25849655, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BROX haploinsufficiency in familial nonmedullary thyroid cancer.
    Title: BROX haploinsufficiency in familial nonmedullary thyroid cancer.
  2. homologous domain of human Bro1 domain-containing proteins, Alix and Brox, binds CHMP4B but not STAM2, despite their high structural similarity
    Title: Structural Study of the HD-PTP Bro1 Domain in a Complex with the Core Region of STAM2, a Subunit of ESCRT-0.
  3. structural analysis of the Bro1 domain protein BROX and functional analyses of the ALIX Bro1 domain in HIV-1 budding
    Title: Structure of the Bro1 domain protein BROX and functional analyses of the ALIX Bro1 domain in HIV-1 budding.
  4. Results revealed that Strep-Brox(WT) exhibited accumulation in the perinuclear area suggested physiological significance of farnesylation of Brox in its subcellular distribution and efficient interaction with CHMP4s in vivo.
    Title: Brox, a novel farnesylated Bro1 domain-containing protein that associates with charged multivesicular body protein 4 (CHMP4).
Submit: New GeneRIF Correction

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32421, MGC142195, MGC142197, RP11-452F19.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitotic nuclear membrane reassembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
BRO1 domain-containing protein BROX

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_001288579.2 → NP_001275508.1  BRO1 domain-containing protein BROX isoform b

    See identical proteins and their annotated locations for NP_001275508.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AK056983, AL392172, AL701416, BC143811, DB504492
    Consensus CDS
    CCDS73037.1
    UniProtKB/TrEMBL
    B7Z1V1
    Related
    ENSP00000478496.1, ENST00000612948.4
    Conserved Domains (1) summary
    cd09243
    Location:4 → 324
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  2. NM_001288580.2 → NP_001275509.1  BRO1 domain-containing protein BROX isoform b

    See identical proteins and their annotated locations for NP_001275509.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AK315930, AL392172, DC418391
    Consensus CDS
    CCDS73037.1
    UniProtKB/TrEMBL
    B7Z1V1
    Related
    ENSP00000441080.1, ENST00000539697.5
    Conserved Domains (1) summary
    cd09243
    Location:4 → 324
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  3. NM_001288581.2 → NP_001275510.1  BRO1 domain-containing protein BROX isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK056983, AK304445, AL392172, DC418391
    Consensus CDS
    CCDS73036.1
    UniProtKB/TrEMBL
    B7Z953, F5GXQ0
    Related
    ENSP00000440041.1, ENST00000537020.5
    Conserved Domains (1) summary
    cd09243
    Location:4 → 330
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  4. NM_001375661.1 → NP_001362590.1  BRO1 domain-containing protein BROX isoform a

    Status: VALIDATED

    Source sequence(s)
    AL392172
    Consensus CDS
    CCDS1534.1
    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1
    UniProtKB/TrEMBL
    B7Z1V1
    Conserved Domains (1) summary
    cd09243
    Location:4 → 356
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  5. NM_001375758.1 → NP_001362687.1  BRO1 domain-containing protein BROX isoform d

    Status: VALIDATED

    Source sequence(s)
    AL392172
    UniProtKB/TrEMBL
    B7Z1V1
    Conserved Domains (1) summary
    cd09243
    Location:1 → 300
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  6. NM_144695.4 → NP_653296.2  BRO1 domain-containing protein BROX isoform a

    See identical proteins and their annotated locations for NP_653296.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK056983, AL392172, AL701416, BC113635, DB504492
    Consensus CDS
    CCDS1534.1
    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1
    UniProtKB/TrEMBL
    B7Z1V1
    Related
    ENSP00000343742.5, ENST00000340934.10
    Conserved Domains (1) summary
    cd09243
    Location:4 → 356
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

RNA

  1. NR_109927.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks several exons and uses an alternate 3'-terminal exon, compared to variant 1. This variant is represented as non-coding because it does not encode a supported protein.
    Source sequence(s)
    AK056983, AL392172, AL701416, BC053552, BC105293, DB504492
    Related
    ENST00000496267.1

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    222712564..222735187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047446853.1 → XP_047302809.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  2. XM_047446889.1 → XP_047302845.1  BRO1 domain-containing protein BROX isoform X5

  3. XM_047446879.1 → XP_047302835.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  4. XM_017000374.3 → XP_016855863.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1
    UniProtKB/TrEMBL
    B7Z1V1
    Conserved Domains (1) summary
    cd09243
    Location:4 → 356
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  5. XM_006711173.5 → XP_006711236.1  BRO1 domain-containing protein BROX isoform X1

    UniProtKB/TrEMBL
    B7Z1V1
    Conserved Domains (1) summary
    cd09243
    Location:21 → 373
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  6. XM_011509214.4 → XP_011507516.1  BRO1 domain-containing protein BROX isoform X2

    See identical proteins and their annotated locations for XP_011507516.1

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1
    UniProtKB/TrEMBL
    B7Z1V1
    Conserved Domains (1) summary
    cd09243
    Location:4 → 356
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  7. XM_005273069.6 → XP_005273126.1  BRO1 domain-containing protein BROX isoform X5

    UniProtKB/TrEMBL
    B7Z1V1
    Conserved Domains (1) summary
    cd09243
    Location:1 → 301
    BRO1_Brox_like; Protein-interacting Bro1-like domain of human Brox1 and related proteins

  8. XM_047446864.1 → XP_047302820.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  9. XM_047446839.1 → XP_047302795.1  BRO1 domain-containing protein BROX isoform X1

  10. XM_047446888.1 → XP_047302844.1  BRO1 domain-containing protein BROX isoform X3

  11. XM_047446886.1 → XP_047302842.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  12. XM_017000375.3 → XP_016855864.2  BRO1 domain-containing protein BROX isoform X4

  13. XM_047446890.1 → XP_047302846.1  BRO1 domain-containing protein BROX isoform X6

    Related
    ENSP00000398862.1, ENST00000426638.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    221946320..221968943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334562.1 → XP_054190537.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  2. XM_054334570.1 → XP_054190545.1  BRO1 domain-containing protein BROX isoform X5

  3. XM_054334565.1 → XP_054190540.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  4. XM_054334566.1 → XP_054190541.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  5. XM_054334560.1 → XP_054190535.1  BRO1 domain-containing protein BROX isoform X1

  6. XM_054334564.1 → XP_054190539.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  7. XM_054334571.1 → XP_054190546.1  BRO1 domain-containing protein BROX isoform X5

  8. XM_054334563.1 → XP_054190538.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  9. XM_054334561.1 → XP_054190536.1  BRO1 domain-containing protein BROX isoform X1

  10. XM_054334568.1 → XP_054190543.1  BRO1 domain-containing protein BROX isoform X3

  11. XM_054334567.1 → XP_054190542.1  BRO1 domain-containing protein BROX isoform X2

    UniProtKB/Swiss-Prot
    B7Z9G5, Q5VW32, Q96MG1

  12. XM_054334569.1 → XP_054190544.1  BRO1 domain-containing protein BROX isoform X4

  13. XM_054334572.1 → XP_054190547.1  BRO1 domain-containing protein BROX isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VW32.1 GenPept UniProtKB/Swiss-Prot:Q5VW32

Gene LinkOut

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