Human Gene BACH1 (uc002ynj.3)
  Description: Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 2, mRNA.
RefSeq Summary (NM_001186): 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 chr21:30,671,220-30,718,469 Size: 47,250 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr21:30,693,602-30,715,154 Size: 21,553 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:30,671,220-30,718,469)mRNA (may differ from genome)Protein (736 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BACH1_HUMAN
DESCRIPTION: RecName: Full=Transcription regulator protein BACH1; AltName: Full=BTB and CNC homolog 1; AltName: Full=HA2303;
FUNCTION: Transcriptional regulator that acts as repressor or activator. Binds, in vitro, to NF-E2 binding sites. Play important roles in coordinating transcription activation and repression by MAFK.
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Belongs to the bZIP family. CNC subfamily.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) 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


-  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

+  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: 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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.40115-0.247 Picture PostScript Text
3' UTR -827.043315-0.249 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
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR004827 - bZIP
IPR008917 - Euk_TF_DNA-bd

Pfam Domains:
PF00170 - bZIP transcription factor
PF00651 - BTB/POZ domain
PF03131 - bZIP Maf transcription factor
PF07716 - Basic region leucine zipper

SCOP Domains:
47454 - A DNA-binding domain in eukaryotic transcription factors
54695 - POZ domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2IHC - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O14867
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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0020037 heme binding
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000117 regulation of transcription involved in G2/M transition of mitotic cell cycle
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006281 DNA repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0016567 protein ubiquitination
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0031463 Cul3-RING ubiquitin ligase complex
GO:0005829 cytosol


-  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.
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.
JD088454 - Sequence 69478 from Patent EP1572962.
JD506967 - Sequence 487991 from Patent EP1572962.
JD367962 - Sequence 348986 from Patent EP1572962.
JD559582 - Sequence 540606 from Patent EP1572962.
JD300559 - Sequence 281583 from Patent EP1572962.
JD304576 - Sequence 285600 from Patent EP1572962.
JD453719 - Sequence 434743 from Patent EP1572962.
JD079929 - Sequence 60953 from Patent EP1572962.
JD094374 - Sequence 75398 from Patent EP1572962.
JD048902 - Sequence 29926 from Patent EP1572962.
JD302756 - Sequence 283780 from Patent EP1572962.
JD154679 - Sequence 135703 from Patent EP1572962.
JD115438 - Sequence 96462 from Patent EP1572962.
JD490371 - Sequence 471395 from Patent EP1572962.
JD295605 - Sequence 276629 from Patent EP1572962.
JD363379 - Sequence 344403 from Patent EP1572962.
JD292200 - Sequence 273224 from Patent EP1572962.
JD283647 - Sequence 264671 from Patent EP1572962.
HV743761 - JP 2012505233-A/10: TREATING HEPATITIS C VIRUS INFECTION WITH OVEREXPRESSION OF microRNA-196.
HV743754 - JP 2012505233-A/3: TREATING HEPATITIS C VIRUS INFECTION WITH OVEREXPRESSION OF microRNA-196.
JD345910 - Sequence 326934 from Patent EP1572962.
JD239067 - Sequence 220091 from Patent EP1572962.
JD347406 - Sequence 328430 from Patent EP1572962.
JD295563 - Sequence 276587 from Patent EP1572962.
JD306006 - Sequence 287030 from Patent EP1572962.
JD353843 - Sequence 334867 from Patent EP1572962.
JD188130 - Sequence 169154 from Patent EP1572962.
JD450594 - Sequence 431618 from Patent EP1572962.
JD352336 - Sequence 333360 from Patent EP1572962.
JD314575 - Sequence 295599 from Patent EP1572962.
JD350056 - Sequence 331080 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BACH1_HUMAN, NM_001186, NP_996749, O14867, O43285
UCSC ID: uc002ynj.3
RefSeq Accession: NM_001186
Protein: O14867 (aka BACH1_HUMAN or BAC1_HUMAN)
CCDS: CCDS13585.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001186.2
exon count: 5CDS single in 3' UTR: no RNA size: 5642
ORF size: 2211CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4573.50frame shift in genome: no % Coverage: 99.98
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.