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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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