U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BRI3 brain protein I3 [ Homo sapiens (human) ]

Gene ID: 25798, updated on 22-Sep-2022

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; 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BRI3 in Genome Data Viewer
Location:
7q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98281686..98323430)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99512427..99523710)
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 uncharacterized LOC124901706 Neighboring gene Sharpr-MPRA regulatory region 13100 Neighboring gene uncharacterized LOC124901705 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 1 Neighboring gene Sharpr-MPRA regulatory region 688 Neighboring gene RPS3A pseudogene 26

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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Preferred Names
brain protein I3
Names
pRGR2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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, Q9UIC6
    Related
    ENSP00000297290.3, ENST00000297290.4
    Conserved Domains (1) summary
    pfam10164
    Location:57124
    DUF2367; Uncharacterized conserved protein (DUF2367)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017011933.3XP_016867422.1  brain protein I3 isoform X3

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

  3. XM_047420117.1XP_047276073.1  brain protein I3 isoform X4

  4. XM_017011932.3XP_016867421.1  brain protein I3 isoform X3

  5. XM_017011936.2XP_016867425.1  brain protein I3 isoform X4

    Conserved Domains (1) summary
    pfam10164
    Location:2981
    DUF2367; Uncharacterized conserved protein (DUF2367)
  6. XM_017011934.3XP_016867423.1  brain protein I3 isoform X3

  7. XM_047420116.1XP_047276072.1  brain protein I3 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..99523710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)