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BRI3 brain protein I3 [ Homo sapiens (human) ]

Gene ID: 25798, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in lung (RPKM 12.8), stomach (RPKM 11.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98281686..98323430)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99512427..99562122)
105.20220307 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
  • 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_2023_10

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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