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

    Gene ID: 22893, updated on 17-Jun-2024

    Summary

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    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 assembly and negative regulation of transcription, DNA-templated. Located in nucleoplasm. Part of chromatin silencing complex. [provided by Alliance of Genome Resources, Apr 2022]
    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

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    See BAHD1 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40437452..40468236)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38247131..38275586)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40731956..40760435)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40674955-40675478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40675479-40676000 Neighboring gene kinetochore localized astrin (SPAG5) binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40699201-40699700 Neighboring gene isovaleryl-CoA dehydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40728630-40729168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40729169-40729706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40731858-40732395 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40733201-40733702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40733703-40734202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40737995-40738496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9244 Neighboring gene uncharacterized LOC124903473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40755909-40756410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40756411-40756910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40764047-40764950 Neighboring gene carbohydrate sulfotransferase 14 Neighboring gene ribosomal protein L9 pseudogene 27

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. BAHD1 serves as a critical regulator of breast cancer cell proliferation and invasion. Yang ZY, et al. Breast Cancer, 2022 May. PMID 35048286
    2. The BAH domain of BAHD1 is a histone H3K27me3 reader. Zhao D, et al. Protein Cell, 2016 Mar. PMID 26850261, Free PMC Article
    3. A conserved BAH module within mammalian BAHD1 connects H3K27me3 to Polycomb gene silencing. Fan H, et al. Nucleic Acids Res, 2021 May 7. PMID 33823544, Free PMC Article
    4. BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice. Pourpre R, et al. PLoS One, 2020. PMID 32407325, Free PMC Article
    5. Computational Prediction and Validation of BAHD1 as a Novel Molecule for Ulcerative Colitis. Zhu H, et al. Sci Rep, 2015 Jul 17. PMID 26183847, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. The BAH domain of BAHD1 is a histone H3K27me3 reader.
      Title: The BAH domain of BAHD1 is a histone H3K27me3 reader.
    7. 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.
    8. 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.
    9. 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.
    10. 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)

    Genotypes

    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

    Homology

    Clone Names

    • KIAA0945

    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)

    1. 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

    2. 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

    3. 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

    1. 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_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40437452..40468236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q8NDF7, Q8TBE0, Q9Y2F4

    2. 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 ...

    3. XM_047432245.1 → XP_047288201.1  bromo adjacent homology domain-containing 1 protein isoform X7

      UniProtKB/Swiss-Prot
      Q8NDF7, Q8TBE0, Q9Y2F4

    4. XM_047432242.1 → XP_047288198.1  bromo adjacent homology domain-containing 1 protein isoform X5

    5. XM_047432247.1 → XP_047288203.1  bromo adjacent homology domain-containing 1 protein isoform X9

    6. XM_047432246.1 → XP_047288202.1  bromo adjacent homology domain-containing 1 protein isoform X8

    7. XM_047432249.1 → XP_047288205.1  bromo adjacent homology domain-containing 1 protein isoform X10

    8. XM_047432243.1 → XP_047288199.1  bromo adjacent homology domain-containing 1 protein isoform X6

    9. XM_011521367.4 → XP_011519669.2  bromo adjacent homology domain-containing 1 protein isoform X2

    10. XM_047432241.1 → XP_047288197.1  bromo adjacent homology domain-containing 1 protein isoform X4

    11. XM_011521366.3 → XP_011519668.2  bromo adjacent homology domain-containing 1 protein isoform X1

    12. XM_011521368.3 → XP_011519670.2  bromo adjacent homology domain-containing 1 protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38247131..38275586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377520.1 → XP_054233495.1  bromo adjacent homology domain-containing 1 protein isoform X7

    2. XM_054377518.1 → XP_054233493.1  bromo adjacent homology domain-containing 1 protein isoform X5

    3. XM_054377522.1 → XP_054233497.1  bromo adjacent homology domain-containing 1 protein isoform X9

    4. XM_054377521.1 → XP_054233496.1  bromo adjacent homology domain-containing 1 protein isoform X8

    5. XM_054377523.1 → XP_054233498.1  bromo adjacent homology domain-containing 1 protein isoform X10

    6. XM_054377519.1 → XP_054233494.1  bromo adjacent homology domain-containing 1 protein isoform X6

    7. XM_054377515.1 → XP_054233490.1  bromo adjacent homology domain-containing 1 protein isoform X2

    8. XM_054377517.1 → XP_054233492.1  bromo adjacent homology domain-containing 1 protein isoform X4

    9. XM_054377514.1 → XP_054233489.1  bromo adjacent homology domain-containing 1 protein isoform X1

    10. XM_054377516.1 → XP_054233491.1  bromo adjacent homology domain-containing 1 protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBE0.2 GenPept UniProtKB/Swiss-Prot:Q8TBE0

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