BACH1

Transcription regulator protein BACH1 is a protein that in humans is encoded by the BACH1 gene.[5][6][7]

BACH1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBACH1, BACH-1, BTBD24, BTB domain and CNC homolog 1
External IDsOMIM: 602751 MGI: 894680 HomoloGene: 916 GeneCards: BACH1
Gene location (Human)
Chr.Chromosome 21 (human)[1]
Band21q21.3Start29,194,071 bp[1]
End29,630,751 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

571

12013

Ensembl

ENSG00000156273

ENSMUSG00000025612

UniProt

O14867

P97302

RefSeq (mRNA)

NM_001011545
NM_001186
NM_206866

NM_007520

RefSeq (protein)

NP_001177
NP_996749

NP_031546

Location (UCSC)Chr 21: 29.19 – 29.63 MbChr 16: 87.7 – 87.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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. The C-terminus of the protein is a leucine zipper of the bzip_maf family. When this 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. Some exons of this gene overlap with some exons from the C21orf41 gene, which is transcribed in an opposite orientation to this gene but does not seem to encode a protein.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000156273 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025612 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Blouin JL, Duriaux Saïl G, Guipponi M, Rossier C, Pappasavas MP, Antonarakis SE (Mar 1998). "Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1". Human Genetics. 102 (3): 282–8. doi:10.1007/s004390050692. PMID 9544839. S2CID 9494442.
  6. Ohira M, Seki N, Nagase T, Ishikawa K, Nomura N, Ohara O (Jan 1998). "Characterization of a human homolog (BACH1) of the mouse Bach1 gene encoding a BTB-basic leucine zipper transcription factor and its mapping to chromosome 21q22.1". Genomics. 47 (2): 300–6. doi:10.1006/geno.1997.5080. PMID 9479503.
  7. "Entrez Gene: BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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