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Q9P0W2 (HM20B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length317 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BRCA2P515878EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 317317SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related
PRO_0000048575

Regions

DNA binding70 – 13869HMG box
Coiled coil190 – 25768 Potential

Natural variations

Alternative sequence1 – 102102Missing in isoform 2.
VSP_037131
Alternative sequence83 – 10624Missing in isoform 3.
VSP_037132

Experimental info

Mutagenesis1161K → I: Loss of DNA binding activity of the BHC histone deacetylase complex. Ref.11
Sequence conflict11 – 122AA → SS in AAG01174. Ref.3
Sequence conflict1741G → D in CAG33035. Ref.10
Sequence conflict2231H → Q in AAC26860. Ref.9
Sequence conflict2701G → D in BAC03510. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: ADFCF71C47F8CD2D

FASTA31735,813
        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 

« Hide

Isoform 2 [UniParc].

Checksum: F4730ECC889B01B6
Show »

FASTA21524,713
Isoform 3 [UniParc].

Checksum: FD6967D1DDDD4463
Show »

FASTA29332,939

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_006330.2. NM_006339.2.
UniGeneHs.406534.

3D structure databases

ProteinModelPortalQ9P0W2.
SMRQ9P0W2. Positions 33-148.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115642. 19 interactions.
IntActQ9P0W2. 10 interactions.
MINTMINT-1372120.
STRING9606.ENSP00000328269.

PTM databases

PhosphoSiteQ9P0W2.

Proteomic databases

PaxDbQ9P0W2.
PRIDEQ9P0W2.

Protocols and materials databases

DNASU10362.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000333651; ENSP00000328269; ENSG00000064961. [Q9P0W2-1]
GeneID10362.
KEGGhsa:10362.
UCSCuc002lya.3. human. [Q9P0W2-1]

Organism-specific databases

CTD10362.
GeneCardsGC19P003572.
HGNCHGNC:5002. HMG20B.
HPAHPA050220.
HPA053157.
MIM605535. gene.
neXtProtNX_Q9P0W2.
PharmGKBPA29332.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5648.
HOVERGENHBG059870.
InParanoidQ9P0W2.
OMAMKELREY.
PhylomeDBQ9P0W2.
TreeFamTF106440.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ9P0W2.
BgeeQ9P0W2.
CleanExHS_HMG20B.
GenevestigatorQ9P0W2.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHMG20B. human.
GeneWikiHMG20B.
GenomeRNAi10362.
NextBio39281.
PROQ9P0W2.
SOURCESearch...

Entry information

Entry nameHM20B_HUMAN
AccessionPrimary (citable) accession number: Q9P0W2
Secondary accession number(s): A6NMS5 expand/collapse secondary AC list , D6W616, Q6IBP8, Q8NBD5, Q9HD21, Q9Y491, Q9Y4A2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 4, 2005
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM