UniProtKB - Q8TBE0 (BAHD1_HUMAN)
Bromo adjacent homology domain-containing 1 protein
BAHD1
Functioni
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.
2 PublicationsGO - Molecular functioni
- chromatin binding Source: UniProtKB
GO - Biological processi
- heterochromatin assembly Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
Keywordsi
Molecular function | Chromatin regulator, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8TBE0 |
SignaLinki | Q8TBE0 |
Names & Taxonomyi
Protein namesi | Recommended name: Bromo adjacent homology domain-containing 1 proteinShort name: BAH domain-containing protein 1 |
Gene namesi | Name:BAHD1 Synonyms:KIAA0945 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29153, BAHD1 |
MIMi | 613880, gene |
neXtProti | NX_Q8TBE0 |
VEuPathDBi | HostDB:ENSG00000140320 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Other locations
- Chromosome 1 Publication
Note: Localizes to heterochromatin and inactive X chromosome. Colocalizes with histone H3 trimethylated at 'Lys-27' (H3K27me3).
Nucleus
- chromatin silencing complex Source: UniProtKB
- nucleoplasm Source: HPA
Other locations
- chromosome Source: UniProtKB-SubCell
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 22893 |
OpenTargetsi | ENSG00000140320 |
PharmGKBi | PA128394592 |
Miscellaneous databases
Pharosi | Q8TBE0, Tbio |
Genetic variation databases
BioMutai | BAHD1 |
DMDMi | 152040006 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000287918 | 1 – 780 | Bromo adjacent homology domain-containing 1 proteinAdd BLAST | 780 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 8 | PhosphoserineCombined sources | 1 | |
Modified residuei | 101 | PhosphoserineCombined sources | 1 | |
Modified residuei | 121 | PhosphoserineCombined sources | 1 | |
Modified residuei | 184 | PhosphoserineCombined sources | 1 | |
Modified residuei | 206 | PhosphoserineCombined sources | 1 | |
Modified residuei | 588 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8TBE0 |
jPOSTi | Q8TBE0 |
MassIVEi | Q8TBE0 |
MaxQBi | Q8TBE0 |
PaxDbi | Q8TBE0 |
PeptideAtlasi | Q8TBE0 |
PRIDEi | Q8TBE0 |
ProteomicsDBi | 73996 [Q8TBE0-1] 73997 [Q8TBE0-2] 73998 [Q8TBE0-3] |
TopDownProteomicsi | Q8TBE0-3 [Q8TBE0-3] |
PTM databases
iPTMneti | Q8TBE0 |
PhosphoSitePlusi | Q8TBE0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000140320, Expressed in right adrenal gland and 237 other tissues |
ExpressionAtlasi | Q8TBE0, baseline and differential |
Genevisiblei | Q8TBE0, HS |
Organism-specific databases
HPAi | ENSG00000140320, Low tissue specificity |
Interactioni
Subunit structurei
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.
2 PublicationsBinary interactionsi
Q8TBE0
Protein-protein interaction databases
BioGRIDi | 116558, 61 interactors |
IntActi | Q8TBE0, 74 interactors |
MINTi | Q8TBE0 |
STRINGi | 9606.ENSP00000396976 |
Miscellaneous databases
RNActi | Q8TBE0, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q8TBE0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 624 – 779 | BAHPROSITE-ProRule annotationAdd BLAST | 156 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 62 | DisorderedSequence analysisAdd BLAST | 62 | |
Regioni | 78 – 300 | DisorderedSequence analysisAdd BLAST | 223 | |
Regioni | 320 – 358 | DisorderedSequence analysisAdd BLAST | 39 | |
Regioni | 514 – 589 | DisorderedSequence analysisAdd BLAST | 76 | |
Regioni | 731 – 751 | DisorderedSequence analysisAdd BLAST | 21 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 138 – 165 | Basic and acidic residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 187 – 201 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 220 – 236 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 540 – 558 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 559 – 589 | Basic residuesSequence analysisAdd BLAST | 31 |
Domaini
Phylogenomic databases
eggNOGi | KOG1886, Eukaryota |
GeneTreei | ENSGT00390000003967 |
HOGENOMi | CLU_019093_0_0_1 |
InParanoidi | Q8TBE0 |
OMAi | PRPKWAK |
OrthoDBi | 11077at2759 |
PhylomeDBi | Q8TBE0 |
TreeFami | TF350135 |
Family and domain databases
Gene3Di | 2.30.30.490, 1 hit |
InterProi | View protein in InterPro IPR001025, BAH_dom IPR043151, BAH_sf |
Pfami | View protein in Pfam PF01426, BAH, 1 hit |
SMARTi | View protein in SMART SM00439, BAH, 1 hit |
PROSITEi | View protein in PROSITE PS51038, BAH, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG
60 70 80 90 100
RRKNYPLRKR PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP
110 120 130 140 150
SPAPSSEDPG LAQPRKRRLA SLNAEALNNL LLEREDTSSL AGTRRSRAGD
160 170 180 190 200
PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS RDLSPEPAPD EGPRRDGDPA
210 220 230 240 250
PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP APKAPRPKWP
260 270 280 290 300
KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL
310 320 330 340 350
SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP
360 370 380 390 400
QLSPLPMPGN PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP
410 420 430 440 450
EGKLSPVAAP HEEGLLLAPS SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS
460 470 480 490 500
ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC RSLGQLEFPL PEAGHPASPA
510 520 530 540 550
HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK PPSGSKSGLR
560 570 580 590 600
TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK
610 620 630 640 650
AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS
660 670 680 690 700
ALWENPESGE LMMSLLWYYR PEHLQGGRSP SMHEPLQNEV FASRHQDQNS
710 720 730 740 750
VACIEEKCYV LTFAEYCRFC AMAKRRGEGL PSRKTALVPP SADYSTPPHR
760 770 780
TVPEDTDPEL VFLCRHVYDF RHGRILKNPQ
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032359 | 26 | E → G. Corresponds to variant dbSNP:rs3743143Ensembl. | 1 | |
Natural variantiVAR_032360 | 182 | D → H1 PublicationCorresponds to variant dbSNP:rs17856679Ensembl. | 1 | |
Natural variantiVAR_032361 | 298 | Q → K3 PublicationsCorresponds to variant dbSNP:rs3803357Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025623 | 478 | Missing in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_025624 | 685 – 687 | Missing in isoform 3. 1 Publication | 3 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB023162 mRNA Translation: BAA76789.2 Different initiation. BC022782 mRNA Translation: AAH22782.1 AC013356 Genomic DNA No translation available. AL833923 mRNA Translation: CAD38779.1 |
CCDSi | CCDS10058.1 [Q8TBE0-1] CCDS73705.1 [Q8TBE0-2] |
RefSeqi | NP_001288061.1, NM_001301132.1 [Q8TBE0-2] NP_055767.3, NM_014952.4 [Q8TBE0-1] XP_011519671.1, XM_011521369.2 [Q8TBE0-1] |
Genome annotation databases
Ensembli | ENST00000416165.6; ENSP00000396976.1; ENSG00000140320.12 ENST00000560846.1; ENSP00000454101.1; ENSG00000140320.12 [Q8TBE0-3] ENST00000561234.5; ENSP00000454150.1; ENSG00000140320.12 [Q8TBE0-2] |
GeneIDi | 22893 |
KEGGi | hsa:22893 |
MANE-Selecti | ENST00000416165.6; ENSP00000396976.1; NM_014952.5; NP_055767.3 |
UCSCi | uc001zlt.3, human [Q8TBE0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB023162 mRNA Translation: BAA76789.2 Different initiation. BC022782 mRNA Translation: AAH22782.1 AC013356 Genomic DNA No translation available. AL833923 mRNA Translation: CAD38779.1 |
CCDSi | CCDS10058.1 [Q8TBE0-1] CCDS73705.1 [Q8TBE0-2] |
RefSeqi | NP_001288061.1, NM_001301132.1 [Q8TBE0-2] NP_055767.3, NM_014952.4 [Q8TBE0-1] XP_011519671.1, XM_011521369.2 [Q8TBE0-1] |
3D structure databases
AlphaFoldDBi | Q8TBE0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 116558, 61 interactors |
IntActi | Q8TBE0, 74 interactors |
MINTi | Q8TBE0 |
STRINGi | 9606.ENSP00000396976 |
PTM databases
iPTMneti | Q8TBE0 |
PhosphoSitePlusi | Q8TBE0 |
Genetic variation databases
BioMutai | BAHD1 |
DMDMi | 152040006 |
Proteomic databases
EPDi | Q8TBE0 |
jPOSTi | Q8TBE0 |
MassIVEi | Q8TBE0 |
MaxQBi | Q8TBE0 |
PaxDbi | Q8TBE0 |
PeptideAtlasi | Q8TBE0 |
PRIDEi | Q8TBE0 |
ProteomicsDBi | 73996 [Q8TBE0-1] 73997 [Q8TBE0-2] 73998 [Q8TBE0-3] |
TopDownProteomicsi | Q8TBE0-3 [Q8TBE0-3] |
Protocols and materials databases
Antibodypediai | 23102, 72 antibodies from 17 providers |
DNASUi | 22893 |
Genome annotation databases
Ensembli | ENST00000416165.6; ENSP00000396976.1; ENSG00000140320.12 ENST00000560846.1; ENSP00000454101.1; ENSG00000140320.12 [Q8TBE0-3] ENST00000561234.5; ENSP00000454150.1; ENSG00000140320.12 [Q8TBE0-2] |
GeneIDi | 22893 |
KEGGi | hsa:22893 |
MANE-Selecti | ENST00000416165.6; ENSP00000396976.1; NM_014952.5; NP_055767.3 |
UCSCi | uc001zlt.3, human [Q8TBE0-1] |
Organism-specific databases
CTDi | 22893 |
DisGeNETi | 22893 |
GeneCardsi | BAHD1 |
HGNCi | HGNC:29153, BAHD1 |
HPAi | ENSG00000140320, Low tissue specificity |
MIMi | 613880, gene |
neXtProti | NX_Q8TBE0 |
OpenTargetsi | ENSG00000140320 |
PharmGKBi | PA128394592 |
VEuPathDBi | HostDB:ENSG00000140320 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1886, Eukaryota |
GeneTreei | ENSGT00390000003967 |
HOGENOMi | CLU_019093_0_0_1 |
InParanoidi | Q8TBE0 |
OMAi | PRPKWAK |
OrthoDBi | 11077at2759 |
PhylomeDBi | Q8TBE0 |
TreeFami | TF350135 |
Enzyme and pathway databases
PathwayCommonsi | Q8TBE0 |
SignaLinki | Q8TBE0 |
Miscellaneous databases
BioGRID-ORCSi | 22893, 18 hits in 1076 CRISPR screens |
ChiTaRSi | BAHD1, human |
GenomeRNAii | 22893 |
Pharosi | Q8TBE0, Tbio |
PROi | PR:Q8TBE0 |
RNActi | Q8TBE0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140320, Expressed in right adrenal gland and 237 other tissues |
ExpressionAtlasi | Q8TBE0, baseline and differential |
Genevisiblei | Q8TBE0, HS |
Family and domain databases
Gene3Di | 2.30.30.490, 1 hit |
InterProi | View protein in InterPro IPR001025, BAH_dom IPR043151, BAH_sf |
Pfami | View protein in Pfam PF01426, BAH, 1 hit |
SMARTi | View protein in SMART SM00439, BAH, 1 hit |
PROSITEi | View protein in PROSITE PS51038, BAH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | BAHD1_HUMAN | |
Accessioni | Q8TBE0Primary (citable) accession number: Q8TBE0 Secondary accession number(s): Q8NDF7, Q9Y2F4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 29, 2007 |
Last sequence update: | May 29, 2007 | |
Last modified: | May 25, 2022 | |
This is version 142 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot