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    BRI3 brain protein I3 [ Homo sapiens (human) ]

    Gene ID: 25798, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BRI3provided by HGNC
    Official Full Name
    brain protein I3provided by HGNC
    Primary source
    HGNC:HGNC:1109
    See related
    Ensembl:ENSG00000164713 MIM:615628; AllianceGenome:HGNC:1109
    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
    I3
    Summary
    Enables identical protein binding activity. Predicted to be located in azurophil granule membrane and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lung (RPKM 12.8), stomach (RPKM 11.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BRI3 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98281686..98323430)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99512427..99562122)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (97910998..97922275)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97881191-97881934 Neighboring gene uncharacterized LOC124901706 Neighboring gene Sharpr-MPRA regulatory region 13100 Neighboring gene uncharacterized LOC124901705 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97909829-97910813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97915383-97916095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97916808-97917520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26307 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97925226-97925340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97925951-97926452 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97935156-97935656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97935657-97936157 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97942170-97942317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97946925-97947425 Neighboring gene Sharpr-MPRA regulatory region 688 Neighboring gene MPRA-validated peak6654 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97989013-97989890 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97989891-97990770 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:97991721-97992482 Neighboring gene uncharacterized LOC124901862 Neighboring gene RPS3A pseudogene 26

    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 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. Analysis of the Wnt/B-catenin/TCF4 pathway using SAGE, genome-wide microarray and promoter analysis: Identification of BRI3 and HSF2 as novel targets. Kavak E, et al. Cell Signal, 2010 Oct. PMID 20538055
    2. A gene signature of 8 genes could identify the risk of recurrence and progression in Dukes' B colon cancer patients. Bandrés E, et al. Oncol Rep, 2007 May. PMID 17390049
    3. Crystallization and preliminary X-ray analysis of the GST-fused human Bri3 N-terminal domain. Ye Q, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2005 Jan 1. PMID 16508092, Free PMC Article
    4. Cloning, tissue expression pattern, and chromosome location of a novel human gene BRI3BP. Lin L, et al. Biochem Genet, 2001 Dec. PMID 11860200
    5. Identification of IFITM3 and MGAT1 as novel interaction partners of BRI3 by yeast two-hybrid screening. Akiva İ, et al. Turk J Biol, 2018. PMID 30983867, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NRBP1-Containing CRL2/CRL4A Regulates Amyloid beta Production by Targeting BRI2 and BRI3 for Degradation.
      Title: NRBP1-Containing CRL2/CRL4A Regulates Amyloid β Production by Targeting BRI2 and BRI3 for Degradation.
    2. In the context of hepatocellular carcinoma cells, BRI3 is a target of WNT signaling.
      Title: Analysis of the Wnt/B-catenin/TCF4 pathway using SAGE, genome-wide microarray and promoter analysis: Identification of BRI3 and HSF2 as novel targets.
    3. BRI3 inhibits the various processing of amyloid protein precursor by blocking the access of alpha- and beta-secretases.
      Title: BRI3 inhibits amyloid precursor protein processing in a mechanistically distinct manner from its homologue dementia gene BRI2.
    4. BRI3 RNA is expressed less in stage 3 colon cancer in comparison to stage 2 colon cancer, and it is among 8 genes which can be used as a gene signature to differentiate colon cancer stages.
      Title: A gene signature of 8 genes could identify the risk of recurrence and progression in Dukes' B colon cancer patients.
    5. Possible roles of BRI3 in the process of neuronal differentiation.
      Title: BRI3 associates with SCG10 and attenuates NGF-induced neurite outgrowth in PC12 cells.
    6. An X-ray data set was collected to 1.6 A resolution using synchrotron radiation, of a ligandin recombinant fusion protein.
      Title: Crystallization and preliminary X-ray analysis of the GST-fused human Bri3 N-terminal domain.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    membrane protein BRI3
    Names
    pRGR2

    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_001159491.2 → NP_001152963.1  membrane protein BRI3 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BF108440, BF432881, BQ083249
      Consensus CDS
      CCDS55133.1
      UniProtKB/TrEMBL
      F5GXW6
      Related
      ENSP00000440936.1, ENST00000539286.5
      Conserved Domains (1) summary
      pfam10164
      Location:60 → 82
      DUF2367; Uncharacterized conserved protein (DUF2367)

    2. NM_015379.5 → NP_056194.1  membrane protein BRI3 isoform a

      See identical proteins and their annotated locations for NP_056194.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC093169, BC062370, BQ018487, BQ083249
      Consensus CDS
      CCDS5656.1
      UniProtKB/Swiss-Prot
      D6W5R8, F5GXW6, O95415, Q8WV52, Q9UIC6
      Related
      ENSP00000297290.3, ENST00000297290.4
      Conserved Domains (1) summary
      pfam10164
      Location:57 → 124
      DUF2367; Uncharacterized conserved protein (DUF2367)

    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

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      98281686..98323430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011933.3 → XP_016867422.1  membrane protein BRI3 isoform X3

    2. XM_017011931.3 → XP_016867420.1  membrane protein BRI3 isoform X1

    3. XM_047420117.1 → XP_047276073.1  membrane protein BRI3 isoform X4

    4. XM_017011932.3 → XP_016867421.1  membrane protein BRI3 isoform X3

    5. XM_017011936.2 → XP_016867425.1  membrane protein BRI3 isoform X4

      Conserved Domains (1) summary
      pfam10164
      Location:29 → 81
      DUF2367; Uncharacterized conserved protein (DUF2367)

    6. XM_017011934.3 → XP_016867423.1  membrane protein BRI3 isoform X3

    7. XM_047420116.1 → XP_047276072.1  membrane protein BRI3 isoform X2

    RNA

    1. XR_007059999.1 RNA Sequence

    2. XR_007059996.1 RNA Sequence

    3. XR_007059997.1 RNA Sequence

    4. XR_007059998.1 RNA Sequence

    5. XR_007060000.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      99512427..99562122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357764.1 → XP_054213739.1  membrane protein BRI3 isoform X4

    2. XM_054357763.1 → XP_054213738.1  membrane protein BRI3 isoform X4

    3. XM_054357759.1 → XP_054213734.1  membrane protein BRI3 isoform X1

    4. XM_054357761.1 → XP_054213736.1  membrane protein BRI3 isoform X3

    5. XM_054357762.1 → XP_054213737.1  membrane protein BRI3 isoform X3

    6. XM_054357760.1 → XP_054213735.1  membrane protein BRI3 isoform X2

    RNA

    1. XR_008487553.1 RNA Sequence

    2. XR_008487552.1 RNA Sequence

    3. XR_008487554.1 RNA Sequence

    4. XR_008487550.1 RNA Sequence

    5. XR_008487551.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95415.1 GenPept UniProtKB/Swiss-Prot:O95415

    Gene LinkOut

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