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BRINP3 BMP/retinoic acid inducible neural specific 3 [ Homo sapiens (human) ]

Gene ID: 339479, updated on 5-Aug-2018

Summary

Official Symbol
BRINP3provided by HGNC
Official Full Name
BMP/retinoic acid inducible neural specific 3provided by HGNC
Primary source
HGNC:HGNC:22393
See related
Ensembl:ENSG00000162670 Vega:OTTHUMG00000035533
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM5C; DBCCR1L; DBCCR1L1
Summary
This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Expression
Biased expression in brain (RPKM 4.5), small intestine (RPKM 2.0) and 6 other tissues See more
Orthologs

Genomic context

See BRINP3 in Genome Data Viewer
Location:
1q31.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (190097662..190477997, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (190066792..190447534, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1701 Neighboring gene DExH-box helicase 29 pseudogene Neighboring gene uncharacterized LOC105371659 Neighboring gene uncharacterized LOC105371658 Neighboring gene long intergenic non-protein coding RNA 1351 Neighboring gene long intergenic non-protein coding RNA 1720

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
cellular response to retinoic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of mitotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
BMP/retinoic acid-inducible neural-specific protein 3
Names
DBCCR1-like protein 1
bone morphogenetic protein/retinoic acid inducible neural-specific 3
family with sequence similarity 5, member C
protein FAM5C

NCBI Reference Sequences (RefSeq)

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_001317188.1NP_001304117.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK294365, HY113909
    UniProtKB/Swiss-Prot
    Q76B58
    Conserved Domains (1) summary
    cl02616
    Location:39161
    MACPF; MAC/Perforin domain
  2. NM_199051.2NP_950252.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_950252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB111893, DA809835, DC330008
    Consensus CDS
    CCDS1373.1
    UniProtKB/Swiss-Prot
    Q76B58
    Related
    ENSP00000356432.3, OTTHUMP00000033554, ENST00000367462.4, OTTHUMT00000086278
    Conserved Domains (1) summary
    smart00457
    Location:79263
    MACPF; membrane-attack complex / perforin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    190097662..190477997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001127.1XP_016856616.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X2

    Conserved Domains (1) summary
    smart00457
    Location:50233
    MACPF; membrane-attack complex / perforin
  2. XM_017001129.1XP_016856618.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q76B58
    Conserved Domains (1) summary
    cl02616
    Location:39161
    MACPF; MAC/Perforin domain
  3. XM_017001130.1XP_016856619.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X4

    UniProtKB/Swiss-Prot
    Q76B58
    Conserved Domains (1) summary
    cl02616
    Location:39161
    MACPF; MAC/Perforin domain
  4. XM_017001126.1XP_016856615.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q76B58
    Conserved Domains (1) summary
    smart00457
    Location:79263
    MACPF; membrane-attack complex / perforin
  5. XM_017001125.1XP_016856614.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q76B58
    Conserved Domains (1) summary
    smart00457
    Location:79263
    MACPF; membrane-attack complex / perforin
  6. XM_017001128.1XP_016856617.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X2

    Conserved Domains (1) summary
    smart00457
    Location:50233
    MACPF; membrane-attack complex / perforin
  7. XM_017001131.1XP_016856620.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X5

    Conserved Domains (1) summary
    pfam03302
    Location:134183
    VSP; Giardia variant-specific surface protein
  8. XM_011509476.2XP_011507778.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X4

    See identical proteins and their annotated locations for XP_011507778.1

    UniProtKB/Swiss-Prot
    Q76B58
    Conserved Domains (1) summary
    cl02616
    Location:39161
    MACPF; MAC/Perforin domain
  9. XM_011509472.2XP_011507774.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X2

    See identical proteins and their annotated locations for XP_011507774.1

    Conserved Domains (1) summary
    smart00457
    Location:50233
    MACPF; membrane-attack complex / perforin
  10. XM_011509475.2XP_011507777.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X3

    Conserved Domains (1) summary
    smart00457
    Location:37220
    MACPF; membrane-attack complex / perforin
  11. XM_017001133.1XP_016856622.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X7

  12. XM_017001132.1XP_016856621.1  BMP/retinoic acid-inducible neural-specific protein 3 isoform X6

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