Human Gene BACH1 (uc002ynl.2)
  Description: Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 3, non-coding RNA.
RefSeq Summary (NM_206866): This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009].
Transcript (Including UTRs)
   Position: hg19 chr21:30,677,560-30,734,217 Size: 56,658 Total Exon Count: 8 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:30,677,560-30,734,217)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblEntrez GeneExonPrimerGeneNetworkHGNCLynx
OMIMPubMedTreefamWikipediaBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BACH1
CDC HuGE Published Literature: BACH1
Positive Disease Associations: Body Mass Index , Cholesterol, HDL , Glomerular Filtration Rate , Iron , Pancreatic Neoplasms
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Glomerular Filtration Rate
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
           more ... click here to view the complete list

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.68 RPKM in Testis
Total median expression: 273.76 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.

-  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
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK291021 - Homo sapiens cDNA FLJ77930 complete cds, highly similar to Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1, transcript variant 2, mRNA.
AB002803 - Homo sapiens BACH1 mRNA, complete cds.
AK313791 - Homo sapiens cDNA, FLJ94404, Homo sapiens BTB and CNC homology 1, basic leucine zippertranscription factor 1 (BACH1), mRNA.
BC063307 - Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1, mRNA (cDNA clone MGC:71730 IMAGE:30340811), complete cds.
AF026199 - Homo sapiens transcription regulator protein (BACH1) mRNA, complete cds.
AF317903 - Homo sapiens transcription factor BACH1 (BACH1) mRNA, putative alternative exon 1, partial sequence.
CU687674 - Synthetic construct Homo sapiens gateway clone IMAGE:100021222 5' read BACH1 mRNA.
AB384722 - Synthetic construct DNA, clone: pF1KB3015, Homo sapiens BACH1 gene for BTB and CNC homology 1, basic leucine zipper transcription factor 1, complete cds, without stop codon, in Flexi system.
CR450303 - Homo sapiens full open reading frame cDNA clone RZPDo834D071D for gene BACH1, BTB and CNC homology 1, basic leucine zipper transcription factor 1; complete cds; without stopcodon.
EU446466 - Synthetic construct Homo sapiens clone IMAGE:100069953; IMAGE:100011675; FLH257098.01L BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1) gene, encodes complete protein.
KJ890751 - Synthetic construct Homo sapiens clone ccsbBroadEn_00145 BACH1 gene, encodes complete protein.
AF026200 - Homo sapiens Bach1 protein homolog mRNA, partial cds.
AF317902 - Homo sapiens transcription factor BACH1t (BACH1) mRNA, partial cds, alternatively spliced.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_206866, NR_027655
UCSC ID: uc002ynl.2
RefSeq Accession: NM_206866

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: NR_027655.1
exon count: 8CDS single in 3' UTR: no RNA size: 2743
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3422.00frame shift in genome: no % Coverage: 100.00
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.