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    BRI3BP BRI3 binding protein [ Homo sapiens (human) ]

    Gene ID: 140707, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BRI3BPprovided by HGNC
    Official Full Name
    BRI3 binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:14251
    See related
    Ensembl:ENSG00000184992 MIM:615627; AllianceGenome:HGNC:14251
    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
    KG19; BNAS1; HCCR-1; HCCR-2; HCCRBP-1; HCCRBP-3
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon (RPKM 5.3), duodenum (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BRI3BP in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (124993645..125051167)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (124998843..125059692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (125478191..125515777)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125427515-125428016 Neighboring gene tRNA-Ala (anticodon TGC) 4-1 Neighboring gene DEAH-box helicase 37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125471597-125472140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125476761-125477261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7320 Neighboring gene TNF and HNRNPL related immunoregulatory long non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5079 Neighboring gene translocase of outer mitochondrial membrane 6 homolog (yeast) pseudogene Neighboring gene uncharacterized LOC105370052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5080 Neighboring gene NANOG hESC enhancer GRCh37_chr12:125567653-125568164 Neighboring gene acetoacetyl-CoA synthetase

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HCCRBP-3 induces tumorigenesis through direct interaction with HCCR-1 in human cancers.
      Title: HCCRBP-3 induces tumorigenesis through direct interaction with HCCR-1 in human cancers.
    2. Taken together, BRI3BP, widely expressed in animal cell types, seems to possess a pro-apoptotic property and can potentiate drug-induced apoptosis.
      Title: Augmentation of drug-induced cell death by ER protein BRI3BP.
    3. highly expressed in brain, kidney, and liver; mapped to human chromosome 12q24.2-qter
      Title: Cloning, tissue expression pattern, and chromosome location of a novel human gene BRI3BP.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BRI3-binding protein
    Names
    I3-binding protein
    cervical cancer 1 proto-oncogene-binding protein KG19
    cervical cancer oncogene binding protein

    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_080626.6 → NP_542193.3  BRI3-binding protein precursor

      See identical proteins and their annotated locations for NP_542193.3

      Status: VALIDATED

      Source sequence(s)
      AC093719, AC122688, AF284094, CA488612
      Consensus CDS
      CCDS9262.1
      UniProtKB/Swiss-Prot
      Q8WY22, Q8WY23
      UniProtKB/TrEMBL
      A0A5F9ZHY7
      Related
      ENSP00000340761.7, ENST00000341446.9
      Conserved Domains (1) summary
      pfam14965
      Location:49 → 239
      BRI3BP; Negative regulator of p53/TP53

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      124993645..125051167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537940.3 → XP_011536242.1  BRI3-binding protein isoform X1

      Conserved Domains (1) summary
      pfam14965
      Location:49 → 107
      BRI3BP; Negative regulator of p53/TP53

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      124998843..125059692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371142.1 → XP_054227117.1  BRI3-binding protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WY22.1 GenPept UniProtKB/Swiss-Prot:Q8WY22

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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