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Q969G3 (SMCE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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
Alternative name(s):
BRG1-associated factor 57
Short name=BAF57
Gene names
Name:SMARCE1
Synonyms:BAF57
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length411 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth By similarity. Required for the coactivation of estrogen responsive promoters by Swi/Snf complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Ref.11

Subunit structure

Component of 6 multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, Brg1(I), WINAC and Brg1(II). Each of the five complexes contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B), and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1 (SNF5/INI1). Other subunits specific to each of the complexes may also be present. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Also binds to the SRC/p160 family of histone acetyltransferases (HATs) composed of NCOA1, NCOA2, and NCOA3. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts with RCOR1/CoREST, NR3C1 and ZMIM2/ZIMP7. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin. Interacts with BRDT By similarity. Ref.8 Ref.11 Ref.16 Ref.17 Ref.18

Subcellular location

Nucleus Ref.8.

Domain

The HMG domain is essential for CD4 silencing and CD8 activation; mutation of this domain blocks thymus development By similarity.

Post-translational modification

Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1. Ref.19

Involvement in disease

Defects in SMARCE1 may be a cause of Coffin-Siris syndrome, a highly variable disease characterized by mental retardation associated with a broad spectrum of different clinical features.

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
   Biological processNeurogenesis
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Mental retardation
   DomainCoiled coil
   LigandDNA-binding
   Molecular functionChromatin regulator
   PTMPhosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processchromatin remodeling

Inferred from direct assay PubMed 11726552. Source: BHF-UCL

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.8. Source: UniProtKB

nervous system development

Inferred from electronic annotation. Source: UniProtKB-KW

nucleosome disassembly

Inferred from direct assay PubMed 8895581. Source: BHF-UCL

regulation of transcription from RNA polymerase II promoter

Non-traceable author statement PubMed 8804307. Source: BHF-UCL

   Cellular_componentSWI/SNF complex

Inferred from direct assay PubMed 11078522. Source: UniProtKB

nBAF complex

Inferred from sequence or structural similarity. Source: UniProtKB

npBAF complex

Inferred from sequence or structural similarity. Source: UniProtKB

nuclear chromosome

Traceable author statement Ref.1. Source: ProtInc

transcriptional repressor complex

Inferred from physical interaction Ref.8. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

N-acetyltransferase activity

Inferred from direct assay Ref.8. Source: UniProtKB

RNA binding

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Traceable author statement Ref.1. Source: ProtInc

transcription coactivator activity

Non-traceable author statement PubMed 8804307. Source: BHF-UCL

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q969G3-1)

Also known as: BAF57;

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: Q969G3-2)

Also known as: BAF57v;

The sequence of this isoform differs from the canonical sequence as follows:
     344-363: ETHLEETTESQQNGEEGTST → KNCQLCPRKTLTSRYTDFPD
     364-411: Missing.
Isoform 3 (identifier: Q969G3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.
Isoform 4 (identifier: Q969G3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     17-51: Missing.
Isoform 5 (identifier: Q969G3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     17-51: Missing.
     344-411: ETHLEETTES...DPIPEDEKKE → KNCQLCPRKTLTSRYTDFPD
Isoform 6 (identifier: Q969G3-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.
     344-411: ETHLEETTES...DPIPEDEKKE → KNCQLCPRKTLTSRYTDFPD

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 411411SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
PRO_0000048577

Regions

DNA binding66 – 13469HMG box
Coiled coil220 – 319100 Potential
Compositional bias5 – 6561Pro-rich
Compositional bias320 – 41192Glu-rich

Amino acid modifications

Modified residue2651Phosphoserine Ref.12

Natural variations

Alternative sequence1 – 7070Missing in isoform 3 and isoform 6.
VSP_047604
Alternative sequence17 – 5135Missing in isoform 4 and isoform 5.
VSP_047825
Alternative sequence344 – 41168ETHLE…DEKKE → KNCQLCPRKTLTSRYTDFPD in isoform 5 and isoform 6.
VSP_047826
Alternative sequence344 – 36320ETHLE…EGTST → KNCQLCPRKTLTSRYTDFPD in isoform 2.
VSP_011801
Alternative sequence364 – 41148Missing in isoform 2.
VSP_011802
Natural variant731Y → C Probable disease-associated mutation found in one patient diagnosed with Coffin-Siris syndrome. Ref.20
VAR_068215

Experimental info

Sequence conflict461G → S in AAP35840. Ref.3
Sequence conflict461G → S in AAH07082. Ref.7
Sequence conflict461G → S in AAH11017. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (BAF57) [UniParc].

Last modified October 25, 2004. Version 2.
Checksum: 6F1C1B7917BAD506

FASTA41146,649
        10         20         30         40         50         60 
MSKRPSYAPP PTPAPATQMP STPGFVGYNP YSHLAYNNYR LGGNPGTNSR VTASSGITIP 

        70         80         90        100        110        120 
KPPKPPDKPL MPYMRYSRKV WDQVKASNPD LKLWEIGKII GGMWRDLTDE EKQEYLNEYE 

       130        140        150        160        170        180 
AEKIEYNESM KAYHNSPAYL AYINAKSRAE AALEEESRQR QSRMEKGEPY MSIQPAEDPD 

       190        200        210        220        230        240 
DYDDGFSMKH TATARFQRNH RLISEILSES VVPDVRSVVT TARMQVLKRQ VQSLMVHQRK 

       250        260        270        280        290        300 
LEAELLQIEE RHQEKKRKFL ESTDSFNNEL KRLCGLKVEV DMEKIAAEIA QAEEQARKRQ 

       310        320        330        340        350        360 
EEREKEAAEQ AERSQSSIVP EEEQAANKGE EKKDDENIPM ETEETHLEET TESQQNGEEG 

       370        380        390        400        410 
TSTPEDKESG QEGVDSMAEE GTSDSNTGSE SNSATVEEPP TDPIPEDEKK E 

« Hide

Isoform 2 (BAF57v) [UniParc].

Checksum: CAADA4121B64578D
Show »

FASTA36341,780
Isoform 3 [UniParc].

Checksum: 8E5D2873CC92A598
Show »

FASTA34139,260
Isoform 4 [UniParc].

Checksum: 945FCF2B107F5429
Show »

FASTA37642,836
Isoform 5 [UniParc].

Checksum: B87AE458E82C27A5
Show »

FASTA32837,967
Isoform 6 [UniParc].

Checksum: FD0A8E38AD0ADC91
Show »

FASTA29334,390

References

« Hide 'large scale' references
[1]"Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes."
Wang W., Chi T., Xue Y., Zhou S., Kuo A., Crabtree G.R.
Proc. Natl. Acad. Sci. U.S.A. 95:492-498(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
[2]"New players in remodeling neurogenesis: BAF57 neuron-specific isoforms influence transcription of NRSE-containing genes in a promoter-specific manner."
Kazantseva A., Kazantseva J., Sadam H., Pruunsild P., Timmusk T., Neuman T., Palm K.
Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 4; 5 AND 6), ALTERNATIVE SPLICING.
[3]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"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] (ISOFORMS 1 AND 3).
Tissue: Amygdala and Hippocampus.
[5]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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: Brain and Testis.
[8]"REST repression of neuronal genes requires components of the hSWI.SNF complex."
Battaglioli E., Andres M.E., Rose D.W., Chenoweth J.G., Rosenfeld M.G., Anderson M.E., Mandel G.
J. Biol. Chem. 277:41038-41045(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, INTERACTION WITH RCOR1.
[9]"Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes."
Chi T.H., Wan M., Zhao K., Taniuchi I., Chen L., Littman D.R., Crabtree G.R.
Nature 418:195-199(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
[10]"Targeting of SWI/SNF chromatin remodelling complexes to estrogen-responsive genes."
Belandia B., Orford R.L., Hurst H.C., Parker M.G.
EMBO J. 21:4094-4103(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
[11]"The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome."
Kitagawa H., Fujiki R., Yoshimura K., Mezaki Y., Uematsu Y., Matsui D., Ogawa S., Unno K., Okubo M., Tokita A., Nakagawa T., Ito T., Ishimi Y., Nagasawa H., Matsumoto T., Yanagisawa J., Kato S.
Cell 113:905-917(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE WINAC COMPLEX, FUNCTION.
[12]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-265, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[13]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[14]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"Recent advances in understanding chromatin remodeling by SWI/SNF complexes."
Martens J.A., Winston F.
Curr. Opin. Genet. Dev. 13:136-142(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: SWI/SNF CHROMATIN REMODELING COMPLEXES.
[16]"BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation."
Hsiao P.W., Fryer C.J., Trotter K.W., Wang W., Archer T.K.
Mol. Cell. Biol. 23:6210-6220(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NR3C1.
[17]"hZimp7, a novel PIAS-like protein, enhances androgen receptor-mediated transcription and interacts with SWI/SNF-like BAF complexes."
Huang C.-Y., Beliakoff J., Li X., Lee J., Li X., Sharma M., Lim B., Sun Z.
Mol. Endocrinol. 19:2915-2929(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ZMIM2.
[18]"Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex."
Lange M., Kaynak B., Forster U.B., Toenjes M., Fischer J.J., Grimm C., Schlesinger J., Just S., Dunkel I., Krueger T., Mebus S., Lehrach H., Lurz R., Gobom J., Rottbauer W., Abdelilah-Seyfried S., Sperling S.
Genes Dev. 22:2370-2384(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE BAF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
[19]"Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex."
Keppler B.R., Archer T.K.
J. Biol. Chem. 285:35665-35674(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION.
[20]"Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome."
Tsurusaki Y., Okamoto N., Ohashi H., Kosho T., Imai Y., Hibi-Ko Y., Kaname T., Naritomi K., Kawame H., Wakui K., Fukushima Y., Homma T., Kato M., Hiraki Y., Yamagata T., Yano S., Mizuno S., Sakazume S. expand/collapse author list , Ishii T., Nagai T., Shiina M., Ogata K., Ohta T., Niikawa N., Miyatake S., Okada I., Mizuguchi T., Doi H., Saitsu H., Miyake N., Matsumoto N.
Nat. Genet. 44:376-378(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CYS-73, POSSIBLE INVOLVEMENT IN COFFIN-SIRIS SYNDROME.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF035262 Genomic DNA. Translation: AAC04509.1.
EU327017 mRNA. Translation: ACA81391.1.
EU327018 mRNA. Translation: ACA81392.1.
EU327019 mRNA. Translation: ACA81393.1.
EU327020 mRNA. Translation: ACA81394.1.
BT007176 mRNA. Translation: AAP35840.1.
AK001532 mRNA. Translation: BAG50933.1.
AK095047 mRNA. Translation: BAG52975.1.
AK294218 mRNA. Translation: BAG57525.1.
AC004585 Genomic DNA. No translation available.
AC073508 Genomic DNA. No translation available.
CH471152 Genomic DNA. Translation: EAW60670.1.
BC007082 mRNA. Translation: AAH07082.1.
BC011017 mRNA. Translation: AAH11017.1.
BC063700 mRNA. Translation: AAH63700.1.
RefSeqNP_003070.3. NM_003079.4.
XP_005257664.1. XM_005257607.1.
XP_005257665.1. XM_005257608.1.
XP_005257666.1. XM_005257609.1.
XP_005257667.1. XM_005257610.1.
UniGeneHs.743978.

3D structure databases

ProteinModelPortalQ969G3.
SMRQ969G3. Positions 66-139.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112489. 70 interactions.
DIPDIP-27614N.
DIP-33041N.
IntActQ969G3. 26 interactions.
MINTMINT-1137973.
STRING9606.ENSP00000323967.

PTM databases

PhosphoSiteQ969G3.

Polymorphism databases

DMDM61247587.

Proteomic databases

PaxDbQ969G3.
PRIDEQ969G3.

Protocols and materials databases

DNASU6605.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000348513; ENSP00000323967; ENSG00000073584. [Q969G3-1]
ENST00000377808; ENSP00000367039; ENSG00000073584. [Q969G3-5]
ENST00000400122; ENSP00000411607; ENSG00000073584. [Q969G3-6]
ENST00000544009; ENSP00000441857; ENSG00000073584. [Q969G3-3]
ENST00000578044; ENSP00000464511; ENSG00000073584. [Q969G3-3]
ENST00000580419; ENSP00000462475; ENSG00000073584. [Q969G3-4]
GeneID6605.
KEGGhsa:6605.
UCSCuc002hux.2. human. [Q969G3-1]

Organism-specific databases

CTD6605.
GeneCardsGC17M038781.
HGNCHGNC:11109. SMARCE1.
HPACAB037318.
HPA003916.
MIM603111. gene.
neXtProtNX_Q969G3.
Orphanet1465. Coffin-Siris syndrome.
263662. Familial multiple meningioma.
PharmGKBPA35959.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG291422.
HOGENOMHOG000230965.
HOVERGENHBG054558.
InParanoidQ969G3.
KOK11651.
OMAERSQSSM.
OrthoDBEOG7NKKKX.
TreeFamTF321146.

Gene expression databases

ArrayExpressQ969G3.
BgeeQ969G3.
CleanExHS_SMARCE1.
GenevestigatorQ969G3.

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

GeneWikiSMARCE1.
GenomeRNAi6605.
NextBio25703.
PROQ969G3.
SOURCESearch...

Entry information

Entry nameSMCE1_HUMAN
AccessionPrimary (citable) accession number: Q969G3
Secondary accession number(s): B3KMC1 expand/collapse secondary AC list , B4DFR4, C0IMW4, C0IMW5, C0IMW7, H7C3F6, O43539
Entry history
Integrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: October 25, 2004
Last modified: March 19, 2014
This is version 120 of the entry and version 2 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM