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BRINP1 BMP/retinoic acid inducible neural specific 1 [ Homo sapiens (human) ]

Gene ID: 1620, updated on 1-Jun-2020

Summary

Official Symbol
BRINP1provided by HGNC
Official Full Name
BMP/retinoic acid inducible neural specific 1provided by HGNC
Primary source
HGNC:HGNC:2687
See related
Ensembl:ENSG00000078725 MIM:602865
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
DBC1; FAM5A; DBCCR1
Summary
This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 23.7) and adrenal (RPKM 2.3) See more
Orthologs

Genomic context

See BRINP1 in Genome Data Viewer
Location:
9q33.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (119166629..119369435, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (121928907..122131739, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene tubulin beta chain-like Neighboring gene uncharacterized LOC101928849 Neighboring gene uncharacterized LOC105376250 Neighboring gene uncharacterized LOC107987122 Neighboring gene long intergenic non-protein coding RNA 1613

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
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
NHGRI GWA Catalog
Risk alleles for multiple sclerosis identified by a genomewide study.
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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
cell death IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to retinoic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exploration behavior IEA
Inferred from Electronic Annotation
more info
 
maternal behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
short-term memory IEA
Inferred from Electronic Annotation
more info
 
social behavior IEA
Inferred from Electronic Annotation
more info
 
vocalization behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
BMP/retinoic acid-inducible neural-specific protein 1
Names
bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A))
bone morphogenetic protein/retinoic acid inducible neural-specific 1
bone morphogenic protein/retinoic acid inducible neural-specific 1
deleted in bladder cancer 1
deleted in bladder cancer chromosome region candidate 1
deleted in bladder cancer protein 1

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_014618.3NP_055433.2  BMP/retinoic acid-inducible neural-specific protein 1 precursor

    See identical proteins and their annotated locations for NP_055433.2

    Status: VALIDATED

    Source sequence(s)
    AL138894, AL353773, BC065196, Z41452
    Consensus CDS
    CCDS6822.1
    UniProtKB/Swiss-Prot
    O60477
    Related
    ENSP00000265922.2, ENST00000265922.8
    Conserved Domains (1) summary
    smart00457
    Location:73251
    MACPF; membrane-attack complex / perforin

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    119166629..119369435 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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