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BRI3 brain protein I3 [ Homo sapiens (human) ]

Gene ID: 25798, updated on 7-Jun-2020

Summary

Official Symbol
BRI3provided by HGNC
Official Full Name
brain protein I3provided by HGNC
Primary source
HGNC:HGNC:1109
See related
Ensembl:ENSG00000164713 MIM:615628
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
Expression
Ubiquitous expression in lung (RPKM 12.8), stomach (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See BRI3 in Genome Data Viewer
Location:
7q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (98281673..98322398)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (97910972..97952972)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene lemur tyrosine kinase 2 Neighboring gene basic helix-loop-helix family member a15 Neighboring gene tectonin beta-propeller repeat containing 1 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 1 Neighboring gene RPS3A pseudogene 26 Neighboring gene peptidylprolyl isomerase A pseudogene 82

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
brain protein I3
Names
pRGR2

NCBI Reference Sequences (RefSeq)

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_001159491.2NP_001152963.1  brain protein I3 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:6082
    DUF2367; Uncharacterized conserved protein (DUF2367)
  2. NM_015379.5NP_056194.1  brain protein I3 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
    O95415
    Related
    ENSP00000297290.3, ENST00000297290.4
    Conserved Domains (1) summary
    pfam10164
    Location:57124
    DUF2367; Uncharacterized conserved protein (DUF2367)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    98281673..98322398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011936.1XP_016867425.1  brain protein I3 isoform X4

    Conserved Domains (1) summary
    pfam10164
    Location:2981
    DUF2367; Uncharacterized conserved protein (DUF2367)
  2. XM_017011933.2XP_016867422.1  brain protein I3 isoform X2

  3. XM_017011931.2XP_016867420.1  brain protein I3 isoform X1

  4. XM_017011934.2XP_016867423.1  brain protein I3 isoform X2

  5. XM_017011932.2XP_016867421.1  brain protein I3 isoform X2

  6. XM_017011935.2XP_016867424.1  brain protein I3 isoform X3

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