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BRI3BP BRI3 binding protein [ Homo sapiens (human) ]

Gene ID: 140707, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in colon (RPKM 5.3), duodenum (RPKM 5.1) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (124993645..125051167)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (124998843..125059692)
105.20220307 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
  • 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. Augmentation of drug-induced cell death by ER protein BRI3BP. Yamazaki T, et al. Biochem Biophys Res Commun, 2007 Nov 3. PMID 17765869
  2. A small protein encoded by a putative lncRNA regulates apoptosis and tumorigenicity in human colorectal cancer cells. Li XL, et al. Elife, 2020 Oct 28. PMID 33112233, Free PMC Article
  3. HCCRBP-3 induces tumorigenesis through direct interaction with HCCR-1 in human cancers. Ha SA, et al. Mol Carcinog, 2014 Jan. PMID 22851403
  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. HCCRBP-1 directly interacting with HCCR-1 induces tumorigenesis through P53 stabilization. Ha SA, et al. Int J Cancer, 2008 Feb 1. PMID 17943721

See all (48) citations in PubMed

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
  
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_2023_10

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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