Misplaced Pages

BACH1

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Protein-coding gene in the species Homo sapiens
BACH1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2IHC

Identifiers
AliasesBACH1, BACH-1, BTBD24, BTB domain and CNC homolog 1
External IDsOMIM: 602751; MGI: 894680; HomoloGene: 916; GeneCards: BACH1; OMA:BACH1 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)
Chromosome 21 (human)Genomic location for BACH1Genomic location for BACH1
Band21q21.3Start29,194,071 bp
End29,630,751 bp
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)
Chromosome 16 (mouse)Genomic location for BACH1Genomic location for BACH1
Band16|16 C3.3Start87,495,833 bp
End87,530,234 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • monocyte

  • Achilles tendon

  • bone marrow cells

  • blood

  • stromal cell of endometrium

  • sperm

  • granulocyte

  • cartilage tissue

  • amniotic fluid
Top expressed in
  • epithelium of small intestine

  • intestinal villus

  • Ileal epithelium

  • left lung lobe

  • superior cervical ganglion

  • decidua

  • conjunctival fornix

  • external carotid artery

  • medial ganglionic eminence

  • stroma of bone marrow
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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: 87.5 – 87.53 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Transcription regulator protein BACH1 is a protein that in humans is encoded by the BACH1 gene.

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.

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000156273Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025612Ensembl, 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

External links

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

PDB gallery
  • 2ihc: Crystal structure of the bric-a-brac (BTB) domain of human BACH1 2ihc: Crystal structure of the bric-a-brac (BTB) domain of human BACH1
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
Stub icon

This article on a gene on human chromosome 21 is a stub. You can help Misplaced Pages by expanding it.

Categories: