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

    Gene ID: 1620, updated on 14-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results found that the expression of DBCCR1 is significantly lower in the lung cancer tissues compared with adjacent non-tumor tissues of patients, and correlates with more advanced stages of cancer, and shorter survival of patients. Interestingly, DBCCR1 attenuates the expression of DNMT1, suggesting a reciprocal regulation between genetic silencing of cancer suppressor genes and activating DNA methylation.
      Title: Identification of DBCCR1 as a suppressor in the development of lung cancer that is associated with increased DNA methyltransferase 1.
    2. we found that the SIRT1 modulators AROS and DBC1 have an impact on hsp70 transcription, HSF1 acetylation status, and HSF1 recruitment to the hsp70 promoter
      Title: The SIRT1 modulators AROS and DBC1 regulate HSF1 activity and the heat shock response.
    3. DBC1 modulates the stability and function of the nuclear receptor Rev-erb-alpha.
      Title: DBC1 (Deleted in Breast Cancer 1) modulates the stability and function of the nuclear receptor Rev-erbα.
    4. the stress-induced DBC1-SIRT1 interaction is important for cell fate determination following genotoxic stress.
      Title: Regulation of SIRT1 activity by genotoxic stress.
    5. Rxpression of DBC1 and SIRT1 is a significant prognostic indicator for breast carcinoma patients.
      Title: Expression of DBC1 and SIRT1 is associated with poor prognosis for breast carcinoma.
    6. High DBC1 expression is associated with breast and lung cancer..
      Title: Deleted in breast cancer 1 (DBC1) is a dynamically regulated protein.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk alleles for multiple sclerosis in multiplex families.
    10. hypermethylation of the DBC1 promoter region is a frequent event during the development of lymphoproliferative malignancies
      Title: Frequent hypermethylation of DBC1 in malignant lymphoproliferative neoplasms.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    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 
    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

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    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)

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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_014618.3 → NP_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:73 → 251
      MACPF; membrane-attack complex / perforin
      pfam19052
      Location:306 → 761
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60477.2 GenPept UniProtKB/Swiss-Prot:O60477

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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