Aliases for BAHD1 Gene

Aliases for BAHD1 Gene

  • Bromo Adjacent Homology Domain Containing 1 2 3 5
  • Bromo Adjacent Homology Domain-Containing 1 Protein 3 4
  • BAH Domain-Containing Protein 1 3 4
  • KIAA0945 2 4
  • BAHD1 5

External Ids for BAHD1 Gene

Previous GeneCards Identifiers for BAHD1 Gene

  • GC15P038447
  • GC15P038449
  • GC15P038520
  • GC15P040733
  • GC15P017594

Summaries for BAHD1 Gene

GeneCards Summary for BAHD1 Gene

BAHD1 (Bromo Adjacent Homology Domain Containing 1) is a Protein Coding gene. Diseases associated with BAHD1 include Listeriosis and Elephantiasis. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is BAHCC1.

UniProtKB/Swiss-Prot Summary for BAHD1 Gene

  • Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAHD1 Gene

Genomics for BAHD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BAHD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAHD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAHD1

Top Transcription factor binding sites by QIAGEN in the BAHD1 gene promoter:
  • c-Myc
  • CBF(2)
  • CBF-A
  • CBF-B
  • CREB
  • deltaCREB
  • Max1
  • NF-kappaB
  • NF-kappaB1
  • ZIC2

Genomic Locations for BAHD1 Gene

Latest Assembly
chr15:40,439,721-40,468,237
(GRCh38/hg38)
Size:
28,517 bases
Orientation:
Plus strand

Previous Assembly
chr15:40,731,956-40,760,435
(GRCh37/hg19 by Entrez Gene)
Size:
28,480 bases
Orientation:
Plus strand

chr15:40,731,920-40,760,441
(GRCh37/hg19 by Ensembl)
Size:
28,522 bases
Orientation:
Plus strand

Genomic View for BAHD1 Gene

Genes around BAHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAHD1 Gene

Proteins for BAHD1 Gene

  • Protein details for BAHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBE0-BAHD1_HUMAN
    Recommended name:
    Bromo adjacent homology domain-containing 1 protein
    Protein Accession:
    Q8TBE0
    Secondary Accessions:
    • Q8NDF7
    • Q9Y2F4

    Protein attributes for BAHD1 Gene

    Size:
    780 amino acids
    Molecular mass:
    84652 Da
    Quaternary structure:
    • Interacts with CBX5 (HP1 alpha), HDAC5, MBD1 and SP1. Forms a transcription silencing complex with at least CBX3 (HP1 gamma), HDAC1, HDAC2 and TRIM28. Interacts with L.monocytogenes LntA; this interaction, occurring at a late Listeria infection stage, relieves transcription repression, mostly that of interferon-stimulated genes.
    SequenceCaution:
    • Sequence=BAA76789.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for BAHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAHD1 Gene

Post-translational modifications for BAHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BAHD1 Gene

Domains & Families for BAHD1 Gene

Gene Families for BAHD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BAHD1 Gene

InterPro:

Suggested Antigen Peptide Sequences for BAHD1 Gene

GenScript: Design optimal peptide antigens:
  • Bromo adjacent homology domain-containing 1 protein (BAHD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TBE0

UniProtKB/Swiss-Prot:

BAHD1_HUMAN :
  • The BAH domain is required for localization at H3K27me3.
Domain:
  • The BAH domain is required for localization at H3K27me3.
genes like me logo Genes that share domains with BAHD1: view

Function for BAHD1 Gene

Molecular function for BAHD1 Gene

UniProtKB/Swiss-Prot Function:
Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3.

Phenotypes From GWAS Catalog for BAHD1 Gene

Gene Ontology (GO) - Molecular Function for BAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 19666599
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BAHD1: view
genes like me logo Genes that share phenotypes with BAHD1: view

Animal Models for BAHD1 Gene

MGI Knock Outs for BAHD1:
  • Bahd1 Bahd1<tm2b(KOMP)Wtsi>
  • Bahd1 Bahd1<tm1.1Ics>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAHD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAHD1 Gene

Localization for BAHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAHD1 Gene

Nucleus. Chromosome. Note=Localizes to heterochromatin and inactive X chromosome. Colocalizes with histone H3 trimethylated at 'Lys-27' (H3K27me3).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAHD1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005677 chromatin silencing complex IDA 19666599
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with BAHD1: view

Pathways & Interactions for BAHD1 Gene

PathCards logo

SuperPathways for BAHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BAHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0031507 heterochromatin assembly IMP 19666599
GO:0045892 negative regulation of transcription, DNA-templated IMP 19666599
genes like me logo Genes that share ontologies with BAHD1: view

No data available for Pathways by source and SIGNOR curated interactions for BAHD1 Gene

Drugs & Compounds for BAHD1 Gene

No Compound Related Data Available

Transcripts for BAHD1 Gene

mRNA/cDNA for BAHD1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAHD1

Alternative Splicing Database (ASD) splice patterns (SP) for BAHD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: -
SP2: -
SP3: - -
SP4:

Relevant External Links for BAHD1 Gene

GeneLoc Exon Structure for
BAHD1

Expression for BAHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BAHD1 Gene

Protein differential expression in normal tissues from HIPED for BAHD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (48.9) and Pancreas (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAHD1 Gene



Protein tissue co-expression partners for BAHD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAHD1

SOURCE GeneReport for Unigene cluster for BAHD1 Gene:

Hs.22109

Evidence on tissue expression from TISSUES for BAHD1 Gene

  • Nervous system(4.4)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with BAHD1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BAHD1 Gene

Orthologs for BAHD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAHD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BAHD1 29 30
  • 97.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BAHD1 29 30
  • 89.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BAHD1 29 30
  • 88.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bahd1 29
  • 87 (n)
Mouse
(Mus musculus)
Mammalia Bahd1 29 16 30
  • 86.92 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BAHD1 30
  • 63 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BAHD1 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BAHD1 29 30
  • 61.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BAHD1 30
  • 40 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bahd1 29
  • 58.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100331694 29
  • 61.04 (n)
bahd1 30
  • 34 (a)
OneToMany
BAHD1 (2 of 2) 30
  • 30 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Hers 30
  • 8 (a)
OneToOne
Species where no ortholog for BAHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BAHD1 Gene

ENSEMBL:
Gene Tree for BAHD1 (if available)
TreeFam:
Gene Tree for BAHD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAHD1: view image
Alliance of Genome Resources:
Additional Orthologs for BAHD1

Paralogs for BAHD1 Gene

Paralogs for BAHD1 Gene

genes like me logo Genes that share paralogs with BAHD1: view

Variants for BAHD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAHD1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs17856679 -- p.Asp182His
rs3743143 -- p.Glu26Gly
rs3803357 -- p.Gln298Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BAHD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BAHD1 Gene

Variant ID Type Subtype PubMed ID
esv2666703 CNV deletion 23128226
esv34145 CNV loss 18971310
esv3636226 CNV loss 21293372
nsv1070267 CNV deletion 25765185
nsv1136194 CNV deletion 24896259

Variation tolerance for BAHD1 Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAHD1
Leiden Open Variation Database (LOVD)
BAHD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAHD1 Gene

Disorders for BAHD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BAHD1 Gene - From: COP

Disorder Aliases PubMed IDs
listeriosis
  • infection by listeria monocytogenes
elephantiasis
- elite association - COSMIC cancer census association via MalaCards
Search BAHD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BAHD1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BAHD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAHD1 Gene

Publications for BAHD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. A bacterial protein targets the BAHD1 chromatin complex to stimulate type III interferon response. (PMID: 21252314) Lebreton A … Bierne H (Science (New York, N.Y.) 2011) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  4. Human BAHD1 promotes heterochromatic gene silencing. (PMID: 19666599) Bierne H … Cossart P (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4
  5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3

Products for BAHD1 Gene

Sources for BAHD1 Gene