Q9P0W2 (HM20B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related
Short name=SMARCE1-related protein

Alternative name(s):
BRCA2-associated factor 35
HMG box-containing protein 20B
HMG domain-containing protein 2
HMG domain-containing protein HMGX2
Sox-like transcriptional factor
Structural DNA-binding protein BRAF35

Gene names

Name:	HMG20B
Synonyms:	BRAF35, HMGX2, HMGXB2, SMARCE1R

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	317 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters.
Subunit structure	Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with the BRCA2 tumor suppressor protein. Ref.2 Ref.12
Subcellular location	Nucleus. Chromosome. Note: Localized to condensed chromosomes in mitosis in conjunction with BRCA2. Ref.2 Ref.3
Tissue specificity	Ubiquitously expressed in adult tissues. Ref.1 Ref.3
Sequence similarities	Contains 1 HMG box DNA-binding domain.
Sequence caution	The sequence AAC26860.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAC26860.1 differs from that shown. Reason: Frameshift at position 223. The sequence AAH21585.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Cell cycle Transcription Transcription regulation
Cellular component	Chromosome Nucleus
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Ligand	DNA-binding
Molecular function	Chromatin regulator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood coagulation Traceable author statement. Source: Reactome cell cycle Inferred from electronic annotation. Source: UniProtKB-KW chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW chromatin organization Non-traceable author statement. Source: UniProtKB negative regulation of protein sumoylation Inferred from electronic annotation. Source: Compara positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	chromosome Inferred from electronic annotation. Source: UniProtKB-SubCell nucleoplasm Traceable author statement. Source: Reactome
Molecular_function	DNA binding Non-traceable author statement. Source: UniProtKB sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BRCA2	P51587	8	EBI-713401,EBI-79792

Alternative products

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

Isoform 1 (identifier: Q9P0W2-1)

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: Q9P0W2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.

Isoform 3 (identifier: Q9P0W2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     83-106: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 317	317	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related		PRO_0000048575
Regions
	DNA binding	70 – 138	69	HMG box
	Coiled coil	190 – 257	68	Potential
Natural variations
	Alternative sequence	1 – 102	102	Missing in isoform 2.		VSP_037131
	Alternative sequence	83 – 106	24	Missing in isoform 3.		VSP_037132
Experimental info
	Mutagenesis	116	1	K → I: Loss of DNA binding activity of the BHC histone deacetylase complex. Ref.11
	Sequence conflict	11 – 12	2	AA → SS in AAG01174. Ref.3
	Sequence conflict	174	1	G → D in CAG33035. Ref.10
	Sequence conflict	223	1	H → Q in AAC26860. Ref.9
	Sequence conflict	270	1	G → D in BAC03510. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: ADFCF71C47F8CD2D	FASTA	317	35,813
	10 20 30 40 50 60 MSHGPKQPGA AAAPAGGKAP GQHGGFVVTV KQERGEGPRA GEKGSHEEEP VKKRGWPKGK 70 80 90 100 110 120 KRKKILPNGP KAPVTGYVRF LNERREQIRT RHPDLPFPEI TKMLGAEWSK LQPTEKQRYL 130 140 150 160 170 180 DEAEREKQQY MKELRAYQQS EAYKMCTEKI QEKKIKKEDS SSGLMNTLLN GHKGGDCDGF 190 200 210 220 230 240 STFDVPIFTE EFLDQNKARE AELRRLRKMN VAFEEQNAVL QRHTQSMSSA RERLEQELAL 250 260 270 280 290 300 EERRTLALQQ QLQAVRQALT ASFASLPVPG TGETPTLGTL DFYMARLHGA IERDPAQHEK 310 LIVRIKEILA QVASEHL
	Isoform 2 [UniParc]. Checksum: F4730ECC889B01B6	FASTA	215	24,713
	10 20 30 40 50 60 MLGAEWSKLQ PTEKQRYLDE AEREKQQYMK ELRAYQQSEA YKMCTEKIQE KKIKKEDSSS 70 80 90 100 110 120 GLMNTLLNGH KGGDCDGFST FDVPIFTEEF LDQNKAREAE LRRLRKMNVA FEEQNAVLQR 130 140 150 160 170 180 HTQSMSSARE RLEQELALEE RRTLALQQQL QAVRQALTAS FASLPVPGTG ETPTLGTLDF 190 200 210 YMARLHGAIE RDPAQHEKLI VRIKEILAQV ASEHL
	Isoform 3 [UniParc]. Checksum: FD6967D1DDDD4463	FASTA	293	32,939
	10 20 30 40 50 60 MSHGPKQPGA AAAPAGGKAP GQHGGFVVTV KQERGEGPRA GEKGSHEEEP VKKRGWPKGK 70 80 90 100 110 120 KRKKILPNGP KAPVTGYVRF LNEWSKLQPT EKQRYLDEAE REKQQYMKEL RAYQQSEAYK 130 140 150 160 170 180 MCTEKIQEKK IKKEDSSSGL MNTLLNGHKG GDCDGFSTFD VPIFTEEFLD QNKAREAELR 190 200 210 220 230 240 RLRKMNVAFE EQNAVLQRHT QSMSSARERL EQELALEERR TLALQQQLQA VRQALTASFA 250 260 270 280 290 SLPVPGTGET PTLGTLDFYM ARLHGAIERD PAQHEKLIVR IKEILAQVAS EHL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression." Sumoy L., Carim-Todd L., Escarceller M., Nadal M., Gratacos M., Pujana M.A., Estivill X., Peral B. Cytogenet. Cell Genet. 88:62-67(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]	"A human BRCA2 complex containing a structural DNA binding component influences cell cycle progression." Marmorstein L.Y., Kinev A.V., Chan G.K.T., Bochar D.A., Beniya H., Epstein J.A., Yen T.J., Shiekhattar R. Cell 104:247-257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH BRCA2, SUBCELLULAR LOCATION.
[3]	"Characterization of human SMARCE1r high-mobility-group protein." Lee Y.M., Shin H., Choi W., Ahn S., Kim W. Biochim. Biophys. Acta 1574:269-276(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[4]	"Cloning a cDNA encoding an alternatively spliced protein of BRCA2-associated factor 35." Wang C., McCarty I.M., Balazs L., Li Y., Steiner M.S. Biochem. Biophys. Res. Commun. 295:129-135(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Cerebellum.
[6]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Pancreas, Placenta, Skin and Uterus.
[9]	Suzuki H., Schullery D., Shnyreva M.G., Ostrowski J., Denisenko O., Mochizuki S., Bomsztyk K. Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 97-317 (ISOFORM 1). Tissue: Heart.
[10]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 103-317 (ISOFORM 1).
[11]	"A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes." Hakimi M.-A., Bochar D.A., Chenoweth J., Lane W.S., Mandel G., Shiekhattar R. Proc. Natl. Acad. Sci. U.S.A. 99:7420-7425(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION AS A COMPONENT OF A HISTONE DEACETYLASE COMPLEX, MUTAGENESIS OF LYS-116.
[12]	"A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes." Hakimi M.-A., Dong Y., Lane W.S., Speicher D.W., Shiekhattar R. J. Biol. Chem. 278:7234-7239(2003) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE BHC COMPLEX WITH HDAC1; HDAC2; RCOR1; KDM1A; PHF21A; ZMYM2; ZNF217; ZMYM3; KIAA0182 AND GTF2I.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF146223 mRNA. Translation: AAF66707.1. AL355709 mRNA. Translation: CAB90809.2. AF331191 mRNA. Translation: AAG60060.1. AF288679 mRNA. Translation: AAG01174.1. AF072165 mRNA. Translation: AAF76253.1. AK090733 mRNA. Translation: BAC03510.1. AC005786 Genomic DNA. Translation: AAC62837.1. CH471139 Genomic DNA. Translation: EAW69306.1. CH471139 Genomic DNA. Translation: EAW69307.1. CH471139 Genomic DNA. Translation: EAW69308.1. BC002552 mRNA. Translation: AAH02552.1. BC003505 mRNA. Translation: AAH03505.2. BC004408 mRNA. Translation: AAH04408.2. BC021585 mRNA. Translation: AAH21585.1. Different initiation. AF072836 mRNA. Translation: AAC26860.1. Sequence problems. CR456754 mRNA. Translation: CAG33035.1.
IPI	IPI00464951. IPI00478316. IPI00929221.
RefSeq	NP_006330.2. NM_006339.2.
UniGene	Hs.406534.
3D structure databases
ProteinModelPortal	Q9P0W2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P0W2. 9 interactions.
MINT	MINT-1372120.
STRING	9606.ENSP00000328269.
PTM databases
PhosphoSite	Q9P0W2.
Polymorphism databases
DMDM	57012878.
Proteomic databases
PaxDb	Q9P0W2.
PRIDE	Q9P0W2.
Protocols and materials databases
DNASU	10362.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000333651; ENSP00000328269; ENSG00000064961.
GeneID	10362.
KEGG	hsa:10362.
UCSC	uc002lya.3. human.
Organism-specific databases
CTD	10362.
GeneCards	GC19P003572.
HGNC	HGNC:5002. HMG20B.
MIM	605535. gene.
neXtProt	NX_Q9P0W2.
PharmGKB	PA29332.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5648.
HOVERGEN	HBG059870.
InParanoid	Q9P0W2.
OMA	RLRKMNT.
Enzyme and pathway databases
Reactome	REACT_604. Hemostasis.
Gene expression databases
ArrayExpress	Q9P0W2.
Bgee	Q9P0W2.
CleanEx	HS_HMG20B.
Genevestigator	Q9P0W2.
GermOnline	ENSG00000064961. Homo sapiens.
Family and domain databases
Gene3D	1.10.30.10. 1 hit.
InterPro	IPR009071. HMG_box_dom. [Graphical view]
Pfam	PF00505. HMG_box. 1 hit. [Graphical view]
SMART	SM00398. HMG. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS00353. HMG_BOX_1. False negative. PS50118. HMG_BOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HMG20B. human.
GenomeRNAi	10362.
NextBio	39281.
SOURCE	Search...

Entry information

Entry name

HM20B_HUMAN

Accession

Primary (citable) accession number: Q9P0W2
Secondary accession number(s): A6NMS5 , D6W616, Q6IBP8, Q8NBD5, Q9HD21, Q9Y491, Q9Y4A2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 4, 2005
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 105 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.