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Q969G3

- SMCE1_HUMAN

UniProt

Q969G3 - SMCE1_HUMAN

Protein

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

Gene

SMARCE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (25 Oct 2004)
      Previous versions | rss
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    Functioni

    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.By similarity1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi66 – 13469HMG boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: ProtInc
    2. DNA binding Source: UniProtKB-KW
    3. ligand-dependent nuclear receptor binding Source: BHF-UCL
    4. N-acetyltransferase activity Source: UniProtKB
    5. protein binding Source: IntAct
    6. protein N-terminus binding Source: UniProtKB
    7. RNA binding Source: Ensembl
    8. transcription coactivator activity Source: BHF-UCL

    GO - Biological processi

    1. ATP-dependent chromatin remodeling Source: UniProt
    2. chromatin remodeling Source: BHF-UCL
    3. metabolic process Source: GOC
    4. negative regulation of transcription, DNA-templated Source: UniProtKB
    5. nervous system development Source: UniProtKB-KW
    6. nucleosome disassembly Source: BHF-UCL
    7. regulation of transcription from RNA polymerase II promoter Source: BHF-UCL

    Keywords - Molecular functioni

    Chromatin regulator

    Keywords - Biological processi

    Neurogenesis

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:SMARCE1
    Synonyms:BAF57
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:11109. SMARCE1.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nBAF complex Source: UniProtKB
    2. npBAF complex Source: UniProtKB
    3. nuclear chromatin Source: UniProt
    4. nuclear chromosome Source: ProtInc
    5. nucleus Source: LIFEdb
    6. protein complex Source: UniProt
    7. SWI/SNF complex Source: UniProtKB
    8. transcriptional repressor complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    Orphaneti1465. Coffin-Siris syndrome.
    263662. Familial multiple meningioma.
    PharmGKBiPA35959.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 411411SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1PRO_0000048577Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei265 – 2651Phosphoserine1 Publication

    Post-translational modificationi

    Ubiquitinated by TRIP12, leading to its degradation by the proteasome. Ubiquitination is prevented upon interaction between TRIP12 and SMARCC1.1 Publication

    Keywords - PTMi

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ969G3.
    PaxDbiQ969G3.
    PRIDEiQ969G3.

    PTM databases

    PhosphoSiteiQ969G3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ969G3.
    BgeeiQ969G3.
    CleanExiHS_SMARCE1.
    GenevestigatoriQ969G3.

    Organism-specific databases

    HPAiCAB037318.
    HPA003916.

    Interactioni

    Subunit structurei

    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.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ARID2Q68CP94EBI-455078,EBI-637818
    BRMS1Q9HCU92EBI-455078,EBI-714781
    RCOR1Q9UKL04EBI-455096,EBI-926563

    Protein-protein interaction databases

    BioGridi112489. 74 interactions.
    DIPiDIP-27614N.
    DIP-33041N.
    IntActiQ969G3. 26 interactions.
    MINTiMINT-1137973.
    STRINGi9606.ENSP00000323967.

    Structurei

    3D structure databases

    ProteinModelPortaliQ969G3.
    SMRiQ969G3. Positions 66-139.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili220 – 319100Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi5 – 6561Pro-richAdd
    BLAST
    Compositional biasi320 – 41192Glu-richAdd
    BLAST

    Domaini

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

    Sequence similaritiesi

    Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG291422.
    HOGENOMiHOG000230965.
    HOVERGENiHBG054558.
    InParanoidiQ969G3.
    KOiK11651.
    OMAiSSMVPEE.
    OrthoDBiEOG7NKKKX.
    PhylomeDBiQ969G3.
    TreeFamiTF321146.

    Family and domain databases

    Gene3Di1.10.30.10. 1 hit.
    InterProiIPR009071. HMG_box_dom.
    [Graphical view]
    PfamiPF00505. HMG_box. 1 hit.
    [Graphical view]
    SMARTiSM00398. HMG. 1 hit.
    [Graphical view]
    SUPFAMiSSF47095. SSF47095. 1 hit.
    PROSITEiPS50118. HMG_BOX_2. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q969G3-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MSKRPSYAPP PTPAPATQMP STPGFVGYNP YSHLAYNNYR LGGNPGTNSR    50
    VTASSGITIP KPPKPPDKPL MPYMRYSRKV WDQVKASNPD LKLWEIGKII 100
    GGMWRDLTDE EKQEYLNEYE AEKIEYNESM KAYHNSPAYL AYINAKSRAE 150
    AALEEESRQR QSRMEKGEPY MSIQPAEDPD DYDDGFSMKH TATARFQRNH 200
    RLISEILSES VVPDVRSVVT TARMQVLKRQ VQSLMVHQRK LEAELLQIEE 250
    RHQEKKRKFL ESTDSFNNEL KRLCGLKVEV DMEKIAAEIA QAEEQARKRQ 300
    EEREKEAAEQ AERSQSSIVP EEEQAANKGE EKKDDENIPM ETEETHLEET 350
    TESQQNGEEG TSTPEDKESG QEGVDSMAEE GTSDSNTGSE SNSATVEEPP 400
    TDPIPEDEKK E 411
    Length:411
    Mass (Da):46,649
    Last modified:October 25, 2004 - v2
    Checksum:i6F1C1B7917BAD506
    GO
    Isoform 2 (identifier: Q969G3-2) [UniParc]FASTAAdd to Basket

    Also known as: BAF57v

    The sequence of this isoform differs from the canonical sequence as follows:
         344-363: ETHLEETTESQQNGEEGTST → KNCQLCPRKTLTSRYTDFPD
         364-411: Missing.

    Show »
    Length:363
    Mass (Da):41,780
    Checksum:iCAADA4121B64578D
    GO
    Isoform 3 (identifier: Q969G3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-70: Missing.

    Show »
    Length:341
    Mass (Da):39,260
    Checksum:i8E5D2873CC92A598
    GO
    Isoform 4 (identifier: Q969G3-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         17-51: Missing.

    Show »
    Length:376
    Mass (Da):42,836
    Checksum:i945FCF2B107F5429
    GO
    Isoform 5 (identifier: Q969G3-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         17-51: Missing.
         344-411: ETHLEETTES...DPIPEDEKKE → KNCQLCPRKTLTSRYTDFPD

    Show »
    Length:328
    Mass (Da):37,967
    Checksum:iB87AE458E82C27A5
    GO
    Isoform 6 (identifier: Q969G3-6) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:293
    Mass (Da):34,390
    Checksum:iFD0A8E38AD0ADC91
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti46 – 461G → S in AAP35840. 1 PublicationCurated
    Sequence conflicti46 – 461G → S in AAH07082. (PubMed:15489334)Curated
    Sequence conflicti46 – 461G → S in AAH11017. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731Y → C Probable disease-associated mutation found in one patient diagnosed with Coffin-Siris syndrome. 1 Publication
    VAR_068215

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7070Missing in isoform 3 and isoform 6. 2 PublicationsVSP_047604Add
    BLAST
    Alternative sequencei17 – 5135Missing in isoform 4 and isoform 5. 1 PublicationVSP_047825Add
    BLAST
    Alternative sequencei344 – 41168ETHLE…DEKKE → KNCQLCPRKTLTSRYTDFPD in isoform 5 and isoform 6. 1 PublicationVSP_047826Add
    BLAST
    Alternative sequencei344 – 36320ETHLE…EGTST → KNCQLCPRKTLTSRYTDFPD in isoform 2. 1 PublicationVSP_011801Add
    BLAST
    Alternative sequencei364 – 41148Missing in isoform 2. 1 PublicationVSP_011802Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS11370.1. [Q969G3-1]
    RefSeqiNP_003070.3. NM_003079.4. [Q969G3-1]
    UniGeneiHs.743978.

    Genome annotation databases

    EnsembliENST00000348513; ENSP00000323967; ENSG00000073584. [Q969G3-1]
    ENST00000377808; ENSP00000367039; ENSG00000073584. [Q969G3-5]
    ENST00000400122; ENSP00000411607; ENSG00000073584. [Q969G3-6]
    ENST00000578044; ENSP00000464511; ENSG00000073584. [Q969G3-3]
    ENST00000580419; ENSP00000462475; ENSG00000073584. [Q969G3-4]
    GeneIDi6605.
    KEGGihsa:6605.
    UCSCiuc002hux.2. human. [Q969G3-1]

    Polymorphism databases

    DMDMi61247587.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS11370.1. [Q969G3-1 ]
    RefSeqi NP_003070.3. NM_003079.4. [Q969G3-1 ]
    UniGenei Hs.743978.

    3D structure databases

    ProteinModelPortali Q969G3.
    SMRi Q969G3. Positions 66-139.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112489. 74 interactions.
    DIPi DIP-27614N.
    DIP-33041N.
    IntActi Q969G3. 26 interactions.
    MINTi MINT-1137973.
    STRINGi 9606.ENSP00000323967.

    PTM databases

    PhosphoSitei Q969G3.

    Polymorphism databases

    DMDMi 61247587.

    Proteomic databases

    MaxQBi Q969G3.
    PaxDbi Q969G3.
    PRIDEi Q969G3.

    Protocols and materials databases

    DNASUi 6605.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000348513 ; ENSP00000323967 ; ENSG00000073584 . [Q969G3-1 ]
    ENST00000377808 ; ENSP00000367039 ; ENSG00000073584 . [Q969G3-5 ]
    ENST00000400122 ; ENSP00000411607 ; ENSG00000073584 . [Q969G3-6 ]
    ENST00000578044 ; ENSP00000464511 ; ENSG00000073584 . [Q969G3-3 ]
    ENST00000580419 ; ENSP00000462475 ; ENSG00000073584 . [Q969G3-4 ]
    GeneIDi 6605.
    KEGGi hsa:6605.
    UCSCi uc002hux.2. human. [Q969G3-1 ]

    Organism-specific databases

    CTDi 6605.
    GeneCardsi GC17M038781.
    GeneReviewsi SMARCE1.
    HGNCi HGNC:11109. SMARCE1.
    HPAi CAB037318.
    HPA003916.
    MIMi 603111. gene.
    neXtProti NX_Q969G3.
    Orphaneti 1465. Coffin-Siris syndrome.
    263662. Familial multiple meningioma.
    PharmGKBi PA35959.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG291422.
    HOGENOMi HOG000230965.
    HOVERGENi HBG054558.
    InParanoidi Q969G3.
    KOi K11651.
    OMAi SSMVPEE.
    OrthoDBi EOG7NKKKX.
    PhylomeDBi Q969G3.
    TreeFami TF321146.

    Miscellaneous databases

    GeneWikii SMARCE1.
    GenomeRNAii 6605.
    NextBioi 25703.
    PROi Q969G3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q969G3.
    Bgeei Q969G3.
    CleanExi HS_SMARCE1.
    Genevestigatori Q969G3.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    [Graphical view ]
    Pfami PF00505. HMG_box. 1 hit.
    [Graphical view ]
    SMARTi SM00398. HMG. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47095. SSF47095. 1 hit.
    PROSITEi PS50118. HMG_BOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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. 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. Cited for: VARIANT CYS-73, POSSIBLE INVOLVEMENT IN COFFIN-SIRIS SYNDROME.

    Entry informationi

    Entry nameiSMCE1_HUMAN
    AccessioniPrimary (citable) accession number: Q969G3
    Secondary accession number(s): B3KMC1
    , B4DFR4, C0IMW4, C0IMW5, C0IMW7, H7C3F6, O43539
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2004
    Last sequence update: October 25, 2004
    Last modified: October 1, 2014
    This is version 126 of the entry and version 2 of the sequence. [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 chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3