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: +
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.
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.
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.
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No 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.