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UniProtKB - Q8TBE0 (BAHD1_HUMAN)

Protein

Bromo adjacent homology domain-containing 1 protein

Gene

BAHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • chromatin silencing Source: GO_Central
  • heterochromatin assembly Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionChromatin regulator, Repressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Bromo adjacent homology domain-containing 1 protein
Short name:
BAH domain-containing protein 1
Gene namesi
Name:BAHD1
Synonyms:KIAA0945
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140320.11
HGNCiHGNC:29153 BAHD1
MIMi613880 gene
neXtProtiNX_Q8TBE0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi22893
OpenTargetsiENSG00000140320
PharmGKBiPA128394592

Polymorphism and mutation databases

BioMutaiBAHD1
DMDMi152040006

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002879181 – 780Bromo adjacent homology domain-containing 1 proteinAdd BLAST780

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineCombined sources1
Modified residuei101PhosphoserineCombined sources1
Modified residuei121PhosphoserineCombined sources1
Modified residuei184PhosphoserineCombined sources1
Modified residuei206PhosphoserineCombined sources1
Modified residuei588PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TBE0
MaxQBiQ8TBE0
PaxDbiQ8TBE0
PeptideAtlasiQ8TBE0
PRIDEiQ8TBE0
ProteomicsDBi73996
73997 [Q8TBE0-2]
73998 [Q8TBE0-3]
TopDownProteomicsiQ8TBE0-3 [Q8TBE0-3]

PTM databases

iPTMnetiQ8TBE0
PhosphoSitePlusiQ8TBE0

Expressioni

Gene expression databases

BgeeiENSG00000140320 Expressed in 222 organ(s), highest expression level in right adrenal gland
CleanExiHS_BAHD1
ExpressionAtlasiQ8TBE0 baseline and differential
GenevisibleiQ8TBE0 HS

Organism-specific databases

HPAiHPA041196

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 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi116558, 25 interactors
IntActiQ8TBE0, 44 interactors
MINTiQ8TBE0
STRINGi9606.ENSP00000396976

Structurei

3D structure databases

ProteinModelPortaliQ8TBE0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini624 – 779BAHPROSITE-ProRule annotationAdd BLAST156

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi239 – 361Pro-richAdd BLAST123
Compositional biasi556 – 587Arg-richAdd BLAST32

Domaini

The BAH domain is required for localization at H3K27me3.1 Publication

Phylogenomic databases

eggNOGiKOG1886 Eukaryota
ENOG410XQP1 LUCA
GeneTreeiENSGT00390000003967
HOGENOMiHOG000095173
HOVERGENiHBG106654
InParanoidiQ8TBE0
OMAiRACPQSA
OrthoDBiEOG091G0109
PhylomeDBiQ8TBE0
TreeFamiTF350135

Family and domain databases

InterProiView protein in InterPro
IPR001025 BAH_dom
PfamiView protein in Pfam
PF01426 BAH, 1 hit
SMARTiView protein in SMART
SM00439 BAH, 1 hit
PROSITEiView protein in PROSITE
PS51038 BAH, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8TBE0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:780
Mass (Da):84,652
Last modified:May 29, 2007 - v2
Checksum:iDDCAA05DFAA6D982
GO
Isoform 2 (identifier: Q8TBE0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     478-478: Missing.

Show »
Length:779
Mass (Da):84,523
Checksum:i025D321FEB463C3B
GO
Isoform 3 (identifier: Q8TBE0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     685-687: Missing.

Show »
Length:777
Mass (Da):84,314
Checksum:iBFBD1A288566FFA1
GO

Sequence cautioni

The sequence BAA76789 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03235926E → G. Corresponds to variant dbSNP:rs3743143Ensembl.1
Natural variantiVAR_032360182D → H1 PublicationCorresponds to variant dbSNP:rs17856679Ensembl.1
Natural variantiVAR_032361298Q → K3 PublicationsCorresponds to variant dbSNP:rs3803357Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_025623478Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_025624685 – 687Missing in isoform 3. 1 Publication3

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
CCDSiCCDS10058.1 [Q8TBE0-1]
CCDS73705.1 [Q8TBE0-2]
RefSeqiNP_001288061.1, NM_001301132.1 [Q8TBE0-2]
NP_055767.3, NM_014952.4 [Q8TBE0-1]
XP_011519671.1, XM_011521369.2 [Q8TBE0-1]
UniGeneiHs.22109

Genome annotation databases

EnsembliENST00000416165; ENSP00000396976; ENSG00000140320 [Q8TBE0-1]
ENST00000560846; ENSP00000454101; ENSG00000140320 [Q8TBE0-3]
ENST00000561234; ENSP00000454150; ENSG00000140320 [Q8TBE0-2]
GeneIDi22893
KEGGihsa:22893
UCSCiuc001zlt.3 human [Q8TBE0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS10058.1 [Q8TBE0-1]
CCDS73705.1 [Q8TBE0-2]
RefSeqiNP_001288061.1, NM_001301132.1 [Q8TBE0-2]
NP_055767.3, NM_014952.4 [Q8TBE0-1]
XP_011519671.1, XM_011521369.2 [Q8TBE0-1]
UniGeneiHs.22109

3D structure databases

ProteinModelPortaliQ8TBE0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116558, 25 interactors
IntActiQ8TBE0, 44 interactors
MINTiQ8TBE0
STRINGi9606.ENSP00000396976

PTM databases

iPTMnetiQ8TBE0
PhosphoSitePlusiQ8TBE0

Polymorphism and mutation databases

BioMutaiBAHD1
DMDMi152040006

Proteomic databases

EPDiQ8TBE0
MaxQBiQ8TBE0
PaxDbiQ8TBE0
PeptideAtlasiQ8TBE0
PRIDEiQ8TBE0
ProteomicsDBi73996
73997 [Q8TBE0-2]
73998 [Q8TBE0-3]
TopDownProteomicsiQ8TBE0-3 [Q8TBE0-3]

Protocols and materials databases

DNASUi22893
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000416165; ENSP00000396976; ENSG00000140320 [Q8TBE0-1]
ENST00000560846; ENSP00000454101; ENSG00000140320 [Q8TBE0-3]
ENST00000561234; ENSP00000454150; ENSG00000140320 [Q8TBE0-2]
GeneIDi22893
KEGGihsa:22893
UCSCiuc001zlt.3 human [Q8TBE0-1]

Organism-specific databases

CTDi22893
DisGeNETi22893
EuPathDBiHostDB:ENSG00000140320.11
GeneCardsiBAHD1
H-InvDBiHIX0012131
HGNCiHGNC:29153 BAHD1
HPAiHPA041196
MIMi613880 gene
neXtProtiNX_Q8TBE0
OpenTargetsiENSG00000140320
PharmGKBiPA128394592
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1886 Eukaryota
ENOG410XQP1 LUCA
GeneTreeiENSGT00390000003967
HOGENOMiHOG000095173
HOVERGENiHBG106654
InParanoidiQ8TBE0
OMAiRACPQSA
OrthoDBiEOG091G0109
PhylomeDBiQ8TBE0
TreeFamiTF350135

Miscellaneous databases

ChiTaRSiBAHD1 human
GenomeRNAii22893
PROiPR:Q8TBE0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140320 Expressed in 222 organ(s), highest expression level in right adrenal gland
CleanExiHS_BAHD1
ExpressionAtlasiQ8TBE0 baseline and differential
GenevisibleiQ8TBE0 HS

Family and domain databases

InterProiView protein in InterPro
IPR001025 BAH_dom
PfamiView protein in Pfam
PF01426 BAH, 1 hit
SMARTiView protein in SMART
SM00439 BAH, 1 hit
PROSITEiView protein in PROSITE
PS51038 BAH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBAHD1_HUMAN
AccessioniPrimary (citable) accession number: Q8TBE0
Secondary accession number(s): Q8NDF7, Q9Y2F4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: September 12, 2018
This is version 122 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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