Human Gene BHLHB9 (uc011mrv.2)
  Description: Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 8, mRNA.
RefSeq Summary (NM_001142530): This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011].
Transcript (Including UTRs)
   Position: hg19 chrX:102,000,907-102,007,369 Size: 6,463 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chrX:102,003,924-102,005,567 Size: 1,644 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:102,000,907-102,007,369)mRNA (may differ from genome)Protein (547 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BHLH9_HUMAN
DESCRIPTION: RecName: Full=Protein BHLHb9; Short=bHLHb9; AltName: Full=Transcription regulator of 60 kDa; Short=p60TRP;
FUNCTION: May play a role in the control of cellular aging and survival.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly cytoplasmic, and nuclear at lower level.
TISSUE SPECIFICITY: Highly expressed in brain. Not expressed in lung or liver. Down-regulated in brain from patients suffering from Alzheimer disease.
INDUCTION: Down-regulated in colon cancer cells, due to CpG hypermethylation of its promoter.
SIMILARITY: Belongs to the GPRASP family.
CAUTION: Despite its name, no basic helix-loop-helix (bHLH) domain is detected by any prediction tool.
SEQUENCE CAUTION: Sequence=BAB21792.1; Type=Erroneous initiation;

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 7.32 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 105.83 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 -184.10493-0.373 Picture PostScript Text
3' UTR -486.831802-0.270 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
IPR011989 - ARM-like
IPR006911 - ARM-rpt_dom
IPR016024 - ARM-type_fold

Pfam Domains:
PF04826 - Armadillo-like

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q6PI77
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0042803 protein homodimerization activity

Biological Process:
GO:0007611 learning or memory
GO:0043524 negative regulation of neuron apoptotic process
GO:0050769 positive regulation of neurogenesis
GO:0051965 positive regulation of synapse assembly
GO:0061003 positive regulation of dendritic spine morphogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC041409 - Homo sapiens basic helix-loop-helix domain containing, class B, 9, mRNA (cDNA clone MGC:44058 IMAGE:5284828), complete cds.
AB051488 - Homo sapiens KIAA1701 mRNA for KIAA1701 protein.
AK054934 - Homo sapiens cDNA FLJ30372 fis, clone BRACE2007868.
JD493865 - Sequence 474889 from Patent EP1572962.
JD260663 - Sequence 241687 from Patent EP1572962.
JD415898 - Sequence 396922 from Patent EP1572962.
JD113720 - Sequence 94744 from Patent EP1572962.
JD435862 - Sequence 416886 from Patent EP1572962.
AB384263 - Synthetic construct DNA, clone: pF1KSDA1701, Homo sapiens BHLHB9 gene for basic helix-loop-helix domain-containing protein, class B, 9, complete cds, without stop codon, in Flexi system.
AF547055 - Homo sapiens p60-like protein mRNA, complete cds.
KJ904893 - Synthetic construct Homo sapiens clone ccsbBroadEn_14287 BHLHB9 gene, encodes complete protein.
JD053084 - Sequence 34108 from Patent EP1572962.
JD504754 - Sequence 485778 from Patent EP1572962.
JD495316 - Sequence 476340 from Patent EP1572962.
JD181760 - Sequence 162784 from Patent EP1572962.
JD503463 - Sequence 484487 from Patent EP1572962.
JD137043 - Sequence 118067 from Patent EP1572962.
AF035288 - Homo sapiens clone 23955 mRNA sequence.
JD318981 - Sequence 300005 from Patent EP1572962.
JD041484 - Sequence 22508 from Patent EP1572962.
JD386160 - Sequence 367184 from Patent EP1572962.
JD352367 - Sequence 333391 from Patent EP1572962.
JD245894 - Sequence 226918 from Patent EP1572962.
JD292299 - Sequence 273323 from Patent EP1572962.
JD093618 - Sequence 74642 from Patent EP1572962.
JD263045 - Sequence 244069 from Patent EP1572962.
JD242983 - Sequence 224007 from Patent EP1572962.
JD074412 - Sequence 55436 from Patent EP1572962.
JD348896 - Sequence 329920 from Patent EP1572962.
JD317815 - Sequence 298839 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BHLH9_HUMAN, KIAA1701, NM_001142530, NP_085142, Q6PI77, Q9C0G2
UCSC ID: uc011mrv.2
RefSeq Accession: NM_001142530
Protein: Q6PI77 (aka BHLH9_HUMAN)
CCDS: CCDS14502.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001142530.1
exon count: 2CDS single in 3' UTR: no RNA size: 3953
ORF size: 1644CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3476.00frame shift in genome: no % Coverage: 99.65
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.