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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
the stress-induced DBC1-SIRT1 interaction is important for cell fate determination following genotoxic stress.
Title: Regulation of SIRT1 activity by genotoxic stress.
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.
High DBC1 expression is associated with breast and lung cancer..
Title: Deleted in breast cancer 1 (DBC1) is a dynamically regulated protein.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk alleles for multiple sclerosis in multiplex families.
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 EBI GWAS CatalogPubMed
Risk alleles for multiple sclerosis identified by a genomewide study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13592 (e-PCR)
- UniSTS:80900

D9S1141 (e-PCR)
- UniSTS:47918

RH123764 (e-PCR)
- UniSTS:137788

AFMa239ze1 (e-PCR)
- UniSTS:41800

SHGC-81095 (e-PCR)
- UniSTS:103601

SHGC-145759 (e-PCR)
- UniSTS:174773

STS-Z41452 (e-PCR)
- UniSTS:68790

T16063 (e-PCR)
- UniSTS:221

RH118929 (e-PCR)
- UniSTS:138215

D9S195 (e-PCR)
- UniSTS:13799

D9S1753 (e-PCR)
- UniSTS:154110

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 cell cycle	IDA Inferred from Direct Assay more info	PubMed
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)

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