Bromo adjacent homology domain containing 1

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AliasesBAHD1, bromo adjacent homology domain containing 1
End40,468,236 bp[1]
BAHD1
Identifiers
AliasesBAHD1, bromo adjacent homology domain containing 1
External IDsOMIM: 613880; MGI: 2139371; HomoloGene: 8976; GeneCards: BAHD1; OMA:BAHD1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001301132
NM_014952

NM_001045523

RefSeq (protein)

NP_001288061
NP_055767

n/a

Location (UCSC)Chr 15: 40.44 – 40.47 MbChr 2: 118.73 – 118.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bromo adjacent homology domain containing 1 (BAHD1) is a protein that in humans is encoded by the BAHD1 gene. BAHD1 is involved in heterochromatin formation and transcriptional repression.[5]

BAHD1 was first cloned from a human brain cDNA library and the coding sequence was named KIAA0945.[6] Bierne and colleagues further discovered the function of BAHD1 in the regulation of chromatin structure and gene expression.[7]

Function

BAHD1 acts as a co-repressor by interacting with a set of proteins that promote chromatin compaction and regulate transcription.[7][8] Tandem-affinity purification of the BAHD1-associated protein complex in human HEK293 cells identified MIER proteins (MIER1, MIER2, MIER3), histone deacetylase HDAC1 and HDAC2, histone H3K9 methyltransferase EHMT2, heterochromatin protein 1 (HP1 alpha, HP1 beta, HP1 gamma), MBD1, TRIM28 and CDYL as partners of BAHD1.[8] Overexpression of BAHD1 in HEK293 cells induces large-scale chromatin condensation [7] and DNA methylation on autosomes.[9] The C-terminal BAH domain of BAHD1 acts as a reader for the epigenetic mark H3K27me3.[10] Ectopically expressed BAHD1 colocalizes with the heterochromatic inactive X chromosome (Xi).[7][9]

Animal studies

Ablation of the Bahd1 gene in the mouse alters placental development and results in hypocholesterolemia, hypoglycemia and decreased body fat.[8] Bahd1-haplodeficiency in mice decreases the efficiency of infection with the bacterial pathogen Listeria monocytogenes.[11]

Clinical significance

References

Further reading

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