BAHD1 bromo adjacent homology domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BAHD1provided by HGNC
Official Full Name: bromo adjacent homology domain containing 1provided by HGNC
Primary source: HGNC:HGNC:29153
See related: Ensembl:ENSG00000140320 MIM:613880; AllianceGenome:HGNC:29153
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables chromatin binding activity. Involved in heterochromatin formation and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of chromatin silencing complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 12.0), ovary (RPKM 8.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (40437452..40468236)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (38247131..38275586)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (40731956..40760435)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BAHD1 serves as a critical regulator of breast cancer cell proliferation and invasion.
Title: BAHD1 serves as a critical regulator of breast cancer cell proliferation and invasion.
A conserved BAH module within mammalian BAHD1 connects H3K27me3 to Polycomb gene silencing.
Title: A conserved BAH module within mammalian BAHD1 connects H3K27me3 to Polycomb gene silencing.
FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis.
Title: FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis.
The effect of partial BAHD1 deficiency on behavior was then evaluated on Bahd1 heterozygous male mice, which have no lethal or metabolic phenotypes. Bahd1+/- mice showed anxiety-like behavior and reduced prepulse inhibition (PPI) of the startle response.
Title: BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice.
EFNA5, BAHD1 and PPP2R5E were particularly good candidates for novel disease loci
Title: Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
The BAH domain of BAHD1 is a histone H3K27me3 reader.
Title: The BAH domain of BAHD1 is a histone H3K27me3 reader.
Biochemical analysis of the BAHD1-associated multiprotein complex identifies MIER proteins as novel partners of BAHD1 and suggests that BAHD1-MIER interaction forms a hub for histone deacetylases and methyltransferases
Title: Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism.
computational approaches leveraging public gene expression data can be used to infer potential genes or proteins for diseases, and BAHD1 might act as an indispensable factor in regulating the cellular inflammatory response in UC.
Title: Computational Prediction and Validation of BAHD1 as a Novel Molecule for Ulcerative Colitis.
Authors identified a dilysine motif (K180/K181) in the elbow region of Listeria monocytogenes LntA and a central proline-rich region in human BAHD1 as crucial for the direct LntA-BAHD1 interaction.
Title: Structural basis for the inhibition of the chromatin repressor BAHD1 by the bacterial nucleomodulin LntA.
findings show a Listeria virulence factor, lmo0438/lntA, could target the chromatin repressor BAHD1 in host cell nucleus to activate interferon-stimulated genes; LntA-BAHD1 interplay may modulate IFN-lambda-mediated immune response to control host colonization
Title: A bacterial protein targets the BAHD1 chromatin complex to stimulate type III interferon response.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of bromo adjacent homology domain containing 1 (BAHD1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BAHD1_9281 (e-PCR)
- UniSTS:467580

RH91414 (e-PCR)
- UniSTS:88211

STS-N50033 (e-PCR)
- UniSTS:78741

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin silencing complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin silencing complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: bromo adjacent homology domain-containing 1 protein

Names: BAH domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301132.2 → NP_001288061.1 bromo adjacent homology domain-containing 1 protein isoform b

See identical proteins and their annotated locations for NP_001288061.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.

Source sequence(s)

AB023162, AC013356, BU740533

Consensus CDS

CCDS73705.1

UniProtKB/Swiss-Prot

Q8TBE0

Related

ENSP00000454150.1, ENST00000561234.5

Conserved Domains (2) summary

cd04714
Location:622 → 732

BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...

cl26464
Location:170 → 552

Atrophin-1; Atrophin-1 family
NM_001411044.1 → NP_001397973.1 bromo adjacent homology domain-containing 1 protein isoform c

Status: VALIDATED

Source sequence(s)

AC013356

Consensus CDS

CCDS91980.1

Related

ENSP00000454101.1, ENST00000560846.1
NM_014952.5 → NP_055767.3 bromo adjacent homology domain-containing 1 protein isoform a

See identical proteins and their annotated locations for NP_055767.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AB023162, AC013356, BC022782, BU740533, HY041603

Consensus CDS

CCDS10058.1

UniProtKB/Swiss-Prot

Q8NDF7, Q8TBE0, Q9Y2F4

Related

ENSP00000396976.1, ENST00000416165.6

Conserved Domains (1) summary

cd04714
Location:623 → 733

BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...

RNA

NR_125372.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the central region and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC013356, BC022782, BU740533, HY041603, HY353002

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

40437452..40468236

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432244.1 → XP_047288200.1 bromo adjacent homology domain-containing 1 protein isoform X7

UniProtKB/Swiss-Prot

Q8NDF7, Q8TBE0, Q9Y2F4
XM_011521369.4 → XP_011519671.1 bromo adjacent homology domain-containing 1 protein isoform X7

See identical proteins and their annotated locations for XP_011519671.1

UniProtKB/Swiss-Prot

Q8NDF7, Q8TBE0, Q9Y2F4

Conserved Domains (1) summary

cd04714
Location:623 → 733

BAH_BAHCC1; BAH, or Bromo Adjacent Homology domain, as present in mammalian BAHCC1 and similar proteins. BAHCC1 stands for BAH domain and coiled-coil containing 1. BAH domains are found in a variety of proteins playing roles in transcriptional silencing and the ...
XM_047432245.1 → XP_047288201.1 bromo adjacent homology domain-containing 1 protein isoform X7

UniProtKB/Swiss-Prot

Q8NDF7, Q8TBE0, Q9Y2F4
XM_047432242.1 → XP_047288198.1 bromo adjacent homology domain-containing 1 protein isoform X5
XM_047432247.1 → XP_047288203.1 bromo adjacent homology domain-containing 1 protein isoform X9
XM_047432246.1 → XP_047288202.1 bromo adjacent homology domain-containing 1 protein isoform X8
XM_047432249.1 → XP_047288205.1 bromo adjacent homology domain-containing 1 protein isoform X10
XM_047432243.1 → XP_047288199.1 bromo adjacent homology domain-containing 1 protein isoform X6
XM_011521367.4 → XP_011519669.2 bromo adjacent homology domain-containing 1 protein isoform X2
XM_047432241.1 → XP_047288197.1 bromo adjacent homology domain-containing 1 protein isoform X4
XM_011521366.3 → XP_011519668.2 bromo adjacent homology domain-containing 1 protein isoform X1
XM_011521368.3 → XP_011519670.2 bromo adjacent homology domain-containing 1 protein isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

38247131..38275586

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377520.1 → XP_054233495.1 bromo adjacent homology domain-containing 1 protein isoform X7
XM_054377518.1 → XP_054233493.1 bromo adjacent homology domain-containing 1 protein isoform X5
XM_054377522.1 → XP_054233497.1 bromo adjacent homology domain-containing 1 protein isoform X9
XM_054377521.1 → XP_054233496.1 bromo adjacent homology domain-containing 1 protein isoform X8
XM_054377523.1 → XP_054233498.1 bromo adjacent homology domain-containing 1 protein isoform X10
XM_054377519.1 → XP_054233494.1 bromo adjacent homology domain-containing 1 protein isoform X6
XM_054377515.1 → XP_054233490.1 bromo adjacent homology domain-containing 1 protein isoform X2
XM_054377517.1 → XP_054233492.1 bromo adjacent homology domain-containing 1 protein isoform X4
XM_054377514.1 → XP_054233489.1 bromo adjacent homology domain-containing 1 protein isoform X1
XM_054377516.1 → XP_054233491.1 bromo adjacent homology domain-containing 1 protein isoform X3