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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
    mouse all
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    Genomic context

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    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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