U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 1620, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:2687
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BRINP1 in Genome Data Viewer
    Location:
    9q33.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (119166629..119369435, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (131360823..131563641, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (121928907..122131713, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TUBB4B pseudogene 6 Neighboring gene uncharacterized LOC101928849 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:121690881-121691446 Neighboring gene Sharpr-MPRA regulatory region 1311 Neighboring gene Sharpr-MPRA regulatory region 8806 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:121842783-121842954 Neighboring gene NANOG hESC enhancer GRCh37_chr9:121848802-121849738 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:121863119-121863828 Neighboring gene NANOG hESC enhancer GRCh37_chr9:122040364-122040870 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:122060130-122060659 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:122060660-122061188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:122084631-122085131 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:122127529-122128210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:122131112-122131633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:122131634-122132156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:122132157-122132677 Neighboring gene uncharacterized LOC105376250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:122318186-122318706 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:122388723-122389362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28891 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

    EBI GWAS Catalog

    Description
    Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
    EBI GWAS Catalog
    Risk alleles for multiple sclerosis identified by a genomewide study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to retinoic acid IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maternal behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteasomal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein stabilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in short-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vocalization behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    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_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, Q6IPV6, Q6P1A0, Q8WU22
      Related
      ENSP00000265922.2, ENST00000265922.8
      Conserved Domains (2) summary
      smart00457
      Location:73251
      MACPF; membrane-attack complex / perforin
      pfam19052
      Location:306761
      BRINP; BMP/retinoic acid-inducible neural-specific protein

    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_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      131360823..131563641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)