Reviewed, UniProtKB/Swiss-Prot Q8TBE0 (BAHD1_HUMAN)

Names and origin

Protein names

Recommended name:
    Bromo adjacent homology domain-containing 1 protein
      Short name=BAH domain-containing protein 1

Gene names

Name:	BAHD1
Synonyms:	KIAA0945

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	780 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

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.
Subunit structure	Interacts with CBX5 (HP1 alpha), HDAC5, MBD1 and SP1.
Subcellular location	Nucleus. Note: Localizes to heterochromatin and inactive X chromosome. Colocalizes with histone H3 trimethylated at 'Lys-27' (H3K27me3).
Domain	The BAH domain is required for localization at H3K27me3.
Sequence similarities	Contains 1 BAH domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Chromatin regulator Repressor
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	heterochromatin formation Ref.8 Inferred from mutant phenotype. Source: UniProtKB negative regulation of transcription, DNA-dependent Ref.8 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	chromatin silencing complex Ref.8 Inferred from direct assay. Source: UniProtKB
Molecular function	DNA binding Inferred from electronic annotation. Source: InterPro chromatin binding Ref.8 Inferred from direct assay. Source: UniProtKB protein binding Ref.8 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TBE0-1)

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.

Isoform 2 (identifier: Q8TBE0-2)

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

Isoform 3 (identifier: Q8TBE0-3)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 780	780	Bromo adjacent homology domain-containing 1 protein		PRO_0000287918
Regions
	Domain	624 – 779	156	BAH
	Compositional bias	239 – 361	123	Pro-rich
	Compositional bias	556 – 587	32	Arg-rich
Amino acid modifications
	Modified residue	101	1	Phosphoserine Ref.6
	Modified residue	121	1	Phosphoserine Ref.6
	Modified residue	184	1	Phosphoserine Ref.5
Natural variations
	Alternative sequence	478	1	Missing in isoform 2.		VSP_025623
	Alternative sequence	685 – 687	3	Missing in isoform 3.		VSP_025624
	Natural variant	26	1	E → G: dbSNP rs3743143.		VAR_032359
	Natural variant	182	1	D → H: dbSNP rs17856679. Ref.3		VAR_032360
	Natural variant	298	1	Q → K: dbSNP rs3803357. Ref.3 Ref.1 Ref.4		VAR_032361

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 29, 2007. Version 2. Checksum: DDCAA05DFAA6D982	FASTA	780	84,652
	10 20 30 40 50 60 MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR 70 80 90 100 110 120 PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA 130 140 150 160 170 180 SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS 190 200 210 220 230 240 RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP 250 260 270 280 290 300 APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL 310 320 330 340 350 360 SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN 370 380 390 400 410 420 PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS 430 440 450 460 470 480 SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC 490 500 510 520 530 540 RSLGQLEFPL PEAGHPASPA HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK 550 560 570 580 590 600 PPSGSKSGLR TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK 610 620 630 640 650 660 AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS ALWENPESGE 670 680 690 700 710 720 LMMSLLWYYR PEHLQGGRSP SMHEPLQNEV FASRHQDQNS VACIEEKCYV LTFAEYCRFC 730 740 750 760 770 780 AMAKRRGEGL PSRKTALVPP SADYSTPPHR TVPEDTDPEL VFLCRHVYDF RHGRILKNPQ
	Isoform 2. Checksum: 025D321FEB463C3B	FASTA	779	84,523
	10 20 30 40 50 60 MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR 70 80 90 100 110 120 PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA 130 140 150 160 170 180 SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS 190 200 210 220 230 240 RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP 250 260 270 280 290 300 APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL 310 320 330 340 350 360 SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN 370 380 390 400 410 420 PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS 430 440 450 460 470 480 SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAGCR 490 500 510 520 530 540 SLGQLEFPLP EAGHPASPAH PLLGCPVPSV PPAAEPVPHL QTPTSEPQTV ARACPQSAKP 550 560 570 580 590 600 PSGSKSGLRT GSSCRHTARS KAARRPSHPK QPRVQRPRPR RRRRRRTNGW VPVGAACEKA 610 620 630 640 650 660 VYVLDEPEPA IRKSYQAVER HGETIRVRDT VLLKSGPRKT STPYVAKISA LWENPESGEL 670 680 690 700 710 720 MMSLLWYYRP EHLQGGRSPS MHEPLQNEVF ASRHQDQNSV ACIEEKCYVL TFAEYCRFCA 730 740 750 760 770 MAKRRGEGLP SRKTALVPPS ADYSTPPHRT VPEDTDPELV FLCRHVYDFR HGRILKNPQ
	Isoform 3. Checksum: BFBD1A288566FFA1	FASTA	777	84,314
	10 20 30 40 50 60 MTHTRRKSLP MLSSGLTGRR EPLQMEDSNM EQGVEGVEPG MPESPGHLTG RRKNYPLRKR 70 80 90 100 110 120 PLVPEKPKAC KVLLTRLENV AGPRSADEAD ELPPDLPKPP SPAPSSEDPG LAQPRKRRLA 130 140 150 160 170 180 SLNAEALNNL LLEREDTSSL AGTRRSRAGD PHRSRDRDRA TGGWSSSKKR PRLGDLGGGS 190 200 210 220 230 240 RDLSPEPAPD EGPRRDGDPA PKRLASLNAA AFLKLSQERE LPLRLPRAHA EVDGRSTEPP 250 260 270 280 290 300 APKAPRPKWP KVNGKNYPKA WQGASSGEAA GPPGWQGCPD EPWPSATPCG PSVQPSHQPL 310 320 330 340 350 360 SKALESPLGL RPHLPLLMGG QAALKPEPGR PGEESPAPKQ ELHQPSFPTP QLSPLPMPGN 370 380 390 400 410 420 PADYNGLCVG PELTALGSFY LYCGQEGLQC GGYSPCPMLP EGKLSPVAAP HEEGLLLAPS 430 440 450 460 470 480 SVPSGTPFQH PPWGSSRYCS SEDTGVNGYS ICGVLPLSVT HAGTTCGGCP YKMPFAAEGC 490 500 510 520 530 540 RSLGQLEFPL PEAGHPASPA HPLLGCPVPS VPPAAEPVPH LQTPTSEPQT VARACPQSAK 550 560 570 580 590 600 PPSGSKSGLR TGSSCRHTAR SKAARRPSHP KQPRVQRPRP RRRRRRRTNG WVPVGAACEK 610 620 630 640 650 660 AVYVLDEPEP AIRKSYQAVE RHGETIRVRD TVLLKSGPRK TSTPYVAKIS ALWENPESGE 670 680 690 700 710 720 LMMSLLWYYR PEHLQGGRSP SMHENEVFAS RHQDQNSVAC IEEKCYVLTF AEYCRFCAMA 730 740 750 760 770 KRRGEGLPSR KTALVPPSAD YSTPPHRTVP EDTDPELVFL CRHVYDFRHG RILKNPQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed: 10231032] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-298. Tissue: Brain.
[2]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed: 16572171] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-182 AND LYS-298. Tissue: Pancreas.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 260-780 (ISOFORM 3), VARIANT LYS-298. Tissue: Testis.
[5]	"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-184, MASS SPECTROMETRY.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-101 AND SER-121, MASS SPECTROMETRY.
[7]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-101; SER-121 AND SER-184, MASS SPECTROMETRY. Tissue: T-cell.
[8]	"Human BAHD1 promotes heterochromatic gene silencing." Bierne H., Tham T.N., Batsche E., Dumay A., Leguillou M., Kerneis-Golsteyn S., Regnault B., Seeler J.S., Muchardt C., Feunteun J., Cossart P. Proc. Natl. Acad. Sci. U.S.A. 106:13826-13831(2009) [PubMed: 19666599] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN BAH, INTERACTION WITH CBX5; HDAC5; MBD1 AND SP1.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB023162 mRNA. Translation: BAA76789.2. Different initiation. BC022782 mRNA. Translation: AAH22782.1. AC013356 Genomic DNA. No translation available. AL833923 mRNA. Translation: CAD38779.1.
IPI	IPI00465088. IPI00797500. IPI00848287.
RefSeq	NP_055767.3.
UniGene	Hs.22109
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TBE0. 8 interactions.
PTM databases
PhosphoSite	Q8TBE0.
Proteomic databases
PRIDE	Q8TBE0.
Genome annotation databases
Ensembl	ENST00000416165; ENSP00000396976; ENSG00000140320; Homo sapiens. [Genome view]
GeneID	22893.
KEGG	hsa:22893.
UCSC	uc001zlt.2. human. uc001zlu.2. human. uc001zlv.2. human.
Organism-specific databases
CTD	22893.
GeneCards	GC15P038520.
HGNC	HGNC:29153. BAHD1.
PharmGKB	PA128394592.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG282789.
HOVERGEN	Q8TBE0.
InParanoid	Q8TBE0.
OMA	NYPLRKR.
OrthoDB	EOG9NGK6K.
Gene expression databases
ArrayExpress	Q8TBE0.
Bgee	Q8TBE0.
CleanEx	HS_BAHD1.
Genevestigator	Q8TBE0.
Family and domain databases
InterPro	IPR001025. BAH. [Graphical view]
Pfam	PF01426. BAH. 1 hit. [Graphical view]
SMART	SM00439. BAH. 1 hit. [Graphical view]
PROSITE	PS51038. BAH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	43507.

Entry information

Entry name

BAHD1_HUMAN

Accession

Primary (citable) accession number: Q8TBE0
Secondary accession number(s): Q8NDF7, Q9Y2F4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	May 29, 2007
Last modified:	December 15, 2009
This is version 49 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.