Human Gene BRINP1 (ENST00000265922.8_7) from GENCODE V47lift37
  Description: BMP/retinoic acid inducible neural specific 1 (from RefSeq NM_014618.3)
Gencode Transcript: ENST00000265922.8_7
Gencode Gene: ENSG00000078725.13_11
Transcript (Including UTRs)
   Position: hg19 chr9:121,928,907-122,131,713 Size: 202,807 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr9:121,929,362-122,075,633 Size: 146,272 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:121,928,907-122,131,713)mRNA (may differ from genome)Protein (761 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DBC1_HUMAN
DESCRIPTION: RecName: Full=Deleted in bladder cancer protein 1; AltName: Full=Protein FAM5A; Flags: Precursor;
FUNCTION: Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway.
INTERACTION: Q5BKZ1:ZNF326; NbExp=5; IntAct=EBI-3904864, EBI-2560158;
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine.
MISCELLANEOUS: DBC1 is silenced by methylation in 50% of bladder cancer cell lines.
SIMILARITY: Belongs to the FAM5 family.
SIMILARITY: Contains 1 MACPF domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BRINP1
Diseases sorted by gene-association score: transitional cell carcinoma (5), urinary bladder cancer (3), bladder cancer, somatic (3)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.26 RPKM in Brain - Cortex
Total median expression: 211.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -159.80430-0.372 Picture PostScript Text
3' UTR -97.50455-0.214 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020864 - MACPF

Pfam Domains:
PF01823 - MAC/Perforin domain
PF19052 - BMP/retinoic acid-inducible neural-specific protein

SCOP Domains:
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on O60477
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001662 behavioral fear response
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007614 short-term memory
GO:0008219 cell death
GO:0035176 social behavior
GO:0035640 exploration behavior
GO:0042711 maternal behavior
GO:0045666 positive regulation of neuron differentiation
GO:0045786 negative regulation of cell cycle
GO:0045930 negative regulation of mitotic cell cycle
GO:0050768 negative regulation of neurogenesis
GO:0071300 cellular response to retinoic acid
GO:0071625 vocalization behavior

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0030425 dendrite
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  BC071702 - Homo sapiens deleted in bladder cancer 1, mRNA (cDNA clone MGC:87969 IMAGE:5244680), complete cds.
AF027734 - Homo sapiens IB3089A (IB3089A) mRNA, complete cds.
AK293649 - Homo sapiens cDNA FLJ56532 complete cds, highly similar to Protein FAM5A precursor.
BC065196 - Homo sapiens deleted in bladder cancer 1, mRNA (cDNA clone MGC:75035 IMAGE:5245480), complete cds.
BC021560 - Homo sapiens deleted in bladder cancer 1, mRNA (cDNA clone IMAGE:4591607), complete cds.
KJ901374 - Synthetic construct Homo sapiens clone ccsbBroadEn_10768 DBC1 gene, encodes complete protein.
JD419966 - Sequence 400990 from Patent EP1572962.
JD314179 - Sequence 295203 from Patent EP1572962.
JD147771 - Sequence 128795 from Patent EP1572962.
JD282612 - Sequence 263636 from Patent EP1572962.
JD327831 - Sequence 308855 from Patent EP1572962.
JD204323 - Sequence 185347 from Patent EP1572962.
AK293501 - Homo sapiens cDNA FLJ56953 complete cds, highly similar to Protein FAM5A precursor.
JD114919 - Sequence 95943 from Patent EP1572962.
JD057056 - Sequence 38080 from Patent EP1572962.
JD455475 - Sequence 436499 from Patent EP1572962.
JD069370 - Sequence 50394 from Patent EP1572962.
JD443524 - Sequence 424548 from Patent EP1572962.
JD065077 - Sequence 46101 from Patent EP1572962.
JD442318 - Sequence 423342 from Patent EP1572962.
JD442151 - Sequence 423175 from Patent EP1572962.
JD395407 - Sequence 376431 from Patent EP1572962.
JD443863 - Sequence 424887 from Patent EP1572962.
JD460700 - Sequence 441724 from Patent EP1572962.
JD443866 - Sequence 424890 from Patent EP1572962.
JD064274 - Sequence 45298 from Patent EP1572962.
JD129387 - Sequence 110411 from Patent EP1572962.
JD399271 - Sequence 380295 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BRNP1_HUMAN, DBC1, DBCCR1, ENST00000265922.1, ENST00000265922.2, ENST00000265922.3, ENST00000265922.4, ENST00000265922.5, ENST00000265922.6, ENST00000265922.7, FAM5A, IB3089A, NM_014618, O60477, Q6IPV6, Q6P1A0, Q8WU22, uc317ifb.1, uc317ifb.2
UCSC ID: ENST00000265922.8_7
RefSeq Accession: NM_014618.3
Protein: O60477 (aka DBC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.