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Q12824

- SNF5_HUMAN

UniProt

Q12824 - SNF5_HUMAN

Protein

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

Gene

SMARCB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 2 (16 Aug 2004)
      Previous versions | rss
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    Functioni

    Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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. Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. 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 similarity7 Publications

    GO - Molecular functioni

    1. p53 binding Source: BHF-UCL
    2. protein binding Source: IntAct
    3. Tat protein binding Source: BHF-UCL
    4. transcription coactivator activity Source: BHF-UCL

    GO - Biological processi

    1. ATP-dependent chromatin remodeling Source: UniProt
    2. blastocyst hatching Source: Ensembl
    3. cell differentiation Source: RefGenome
    4. chromatin remodeling Source: BHF-UCL
    5. DNA integration Source: ProtInc
    6. DNA repair Source: RefGenome
    7. mitotic cell cycle phase transition Source: RefGenome
    8. negative regulation of cell proliferation Source: RefGenome
    9. nervous system development Source: UniProtKB-KW
    10. nucleosome disassembly Source: BHF-UCL
    11. positive regulation by host of viral transcription Source: BHF-UCL
    12. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    13. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    14. regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    15. single stranded viral RNA replication via double stranded DNA intermediate Source: MGI
    16. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Chromatin regulator

    Keywords - Biological processi

    Cell cycle, Host-virus interaction, Neurogenesis, Transcription, Transcription regulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
    Alternative name(s):
    BRG1-associated factor 47
    Short name:
    BAF47
    Integrase interactor 1 protein
    SNF5 homolog
    Short name:
    hSNF5
    Gene namesi
    Name:SMARCB1
    Synonyms:BAF47, INI1, SNF5L1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:11103. SMARCB1.

    Subcellular locationi

    GO - Cellular componenti

    1. nBAF complex Source: UniProtKB
    2. npBAF complex Source: UniProtKB
    3. nuclear chromatin Source: UniProt
    4. nucleolus Source: HPA
    5. nucleoplasm Source: ProtInc
    6. nucleus Source: HPA
    7. protein complex Source: UniProt
    8. SWI/SNF complex Source: UniProtKB
    9. XY body Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Rhabdoid tumor predisposition syndrome 1 (RTPS1) [MIM:609322]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Schwannomatosis 1 (SWNTS1) [MIM:162091]: A cancer syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves.2 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Mental retardation, autosomal dominant 15 (MRD15) [MIM:614608]: A disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD15 patients manifest developmental delay, hypotonia, absent or hypoplastic fifth finger or toenails, a coarse facial appearance, sparse scalp hair, thick eyebrows, and long eyelashes. Additional variable features include microcephaly, small cerebellum, seizures, hearing loss, abnormal delayed dentition, hirsutism.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti364 – 3641Missing in MRD15. 1 Publication
    VAR_068178
    Natural varianti377 – 3771R → H in MRD15. 1 Publication
    VAR_068179

    Keywords - Diseasei

    Disease mutation, Mental retardation, Tumor suppressor

    Organism-specific databases

    MIMi162091. phenotype.
    609322. phenotype.
    614608. phenotype.
    Orphaneti99966. Atypical teratoid tumor.
    1465. Coffin-Siris syndrome.
    263662. Familial multiple meningioma.
    231108. Familial rhabdoid tumor.
    93921. Neurofibromatosis type 3.
    PharmGKBiPA35953.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 385385SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1PRO_0000205948Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei129 – 1291Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ12824.
    PaxDbiQ12824.
    PRIDEiQ12824.

    PTM databases

    PhosphoSiteiQ12824.

    Expressioni

    Gene expression databases

    ArrayExpressiQ12824.
    BgeeiQ12824.
    CleanExiHS_SMARCB1.
    GenevestigatoriQ12824.

    Organism-specific databases

    HPAiCAB009196.
    HPA018248.
    HPA019127.

    Interactioni

    Subunit structurei

    Component of the BAF (hSWI/SNF) 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. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Binds to double-stranded DNA. Interacts with MYK and MAEL. Interacts with PPP1R15A. Binds tightly to the human immunodeficiency virus-type 1 (HIV-1) integrase in vitro and stimulates its DNA-joining activity. Interacts with human papillomavirus 18 E1 protein to stimulate its viral replication. Interacts with Epstein-Barr virus protein EBNA-2. 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 By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    P043263EBI-358419,EBI-7333987From a different organism.
    ARID2Q68CP93EBI-358419,EBI-637818
    E1P067895EBI-7015645,EBI-7015660From a different organism.
    SMARCA4P5153222EBI-358419,EBI-302489
    Smarca4Q8K1P72EBI-358419,EBI-689301From a different organism.

    Protein-protein interaction databases

    BioGridi112482. 112 interactions.
    DIPiDIP-27550N.
    IntActiQ12824. 31 interactions.
    MINTiMINT-94943.
    STRINGi9606.ENSP00000263121.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12824.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati186 – 245601Add
    BLAST
    Repeati259 – 319612Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni106 – 18378DNA-bindingSequence AnalysisAdd
    BLAST
    Regioni183 – 24361HIV-1 integrase-bindingAdd
    BLAST
    Regioni186 – 3191342 X approximate tandem repeatsAdd
    BLAST
    Regioni186 – 24560MYC-bindingAdd
    BLAST
    Regioni304 – 31815Interaction with PPP1R15AAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SNF5 family.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG291299.
    HOGENOMiHOG000015760.
    HOVERGENiHBG011709.
    KOiK11648.
    PhylomeDBiQ12824.
    TreeFamiTF105993.

    Family and domain databases

    InterProiIPR006939. SNF5.
    IPR017393. SWI_SNF_chromatin_remodel_cplx.
    [Graphical view]
    PANTHERiPTHR10019. PTHR10019. 1 hit.
    PfamiPF04855. SNF5. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038126. SWI_SNF. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q12824-1) [UniParc]FASTAAdd to Basket

    Also known as: INI1A

    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

    MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL    50
    WRRLATVEER KKIVASSHGK KTKPNTKDHG YTTLATSVTL LKASEVEEIL 100
    DGNDEKYKAV SISTEPPTYL REQKAKRNSQ WVPTLPNSSH HLDAVPCSTT 150
    INRNRMGRDK KRTFPLCFDD HDPAVIHENA SQPEVLVPIR LDMEIDGQKL 200
    RDAFTWNMNE KLMTPEMFSE ILCDDLDLNP LTFVPAIASA IRQQIESYPT 250
    DSILEDQSDQ RVIIKLNIHV GNISLVDQFE WDMSEKENSP EKFALKLCSE 300
    LGLGGEFVTT IAYSIRGQLS WHQKTYAFSE NPLPTVEIAI RNTGDADQWC 350
    PLLETLTDAE MEKKIRDQDR NTRRMRRLAN TAPAW 385
    Length:385
    Mass (Da):44,141
    Last modified:August 16, 2004 - v2
    Checksum:iB7BCA26875BD943D
    GO
    Isoform B (identifier: Q12824-2) [UniParc]FASTAAdd to Basket

    Also known as: INI1B

    The sequence of this isoform differs from the canonical sequence as follows:
         69-77: Missing.

    Show »
    Length:376
    Mass (Da):43,158
    Checksum:i6C7233EAFBC389A9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti136 – 1361P → S(PubMed:7801128)Curated
    Sequence conflicti136 – 1361P → S in CAA76639. (PubMed:9671307)Curated
    Sequence conflicti378 – 3781L → E in CAA76639. (PubMed:9671307)Curated
    Sequence conflicti382 – 3821A → G(PubMed:7801128)Curated
    Sequence conflicti382 – 3821A → G in CAA76639. (PubMed:9671307)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti364 – 3641Missing in MRD15. 1 Publication
    VAR_068178
    Natural varianti377 – 3771R → H in MRD15. 1 Publication
    VAR_068179

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei69 – 779Missing in isoform B. 4 PublicationsVSP_004399

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U04847 mRNA. Translation: AAA81905.1.
    Y17118
    , Y17119, Y17120, Y17121, Y17122, Y17123, Y17124, Y17125, Y17126 Genomic DNA. Translation: CAA76639.1. Sequence problems.
    AJ011738 mRNA. Translation: CAA09759.1.
    AJ011737 mRNA. Translation: CAA09758.1.
    AB017523 mRNA. Translation: BAC77068.1.
    CR456581 mRNA. Translation: CAG30467.1.
    AK021419 mRNA. Translation: BAG51033.1.
    DQ230988 Genomic DNA. Translation: ABB02184.1.
    CH471095 Genomic DNA. Translation: EAW59606.1.
    BC117114 mRNA. Translation: AAI17115.1.
    BC143667 mRNA. Translation: AAI43668.1.
    CCDSiCCDS13817.1. [Q12824-1]
    CCDS46671.1. [Q12824-2]
    PIRiS54705.
    RefSeqiNP_001007469.1. NM_001007468.1. [Q12824-2]
    NP_003064.2. NM_003073.3. [Q12824-1]
    UniGeneiHs.534350.

    Genome annotation databases

    EnsembliENST00000263121; ENSP00000263121; ENSG00000099956. [Q12824-1]
    ENST00000407422; ENSP00000383984; ENSG00000099956. [Q12824-2]
    GeneIDi6598.
    KEGGihsa:6598.
    UCSCiuc002zya.3. human. [Q12824-1]
    uc002zyc.3. human. [Q12824-2]

    Polymorphism databases

    DMDMi51338799.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U04847 mRNA. Translation: AAA81905.1 .
    Y17118
    , Y17119 , Y17120 , Y17121 , Y17122 , Y17123 , Y17124 , Y17125 , Y17126 Genomic DNA. Translation: CAA76639.1 . Sequence problems.
    AJ011738 mRNA. Translation: CAA09759.1 .
    AJ011737 mRNA. Translation: CAA09758.1 .
    AB017523 mRNA. Translation: BAC77068.1 .
    CR456581 mRNA. Translation: CAG30467.1 .
    AK021419 mRNA. Translation: BAG51033.1 .
    DQ230988 Genomic DNA. Translation: ABB02184.1 .
    CH471095 Genomic DNA. Translation: EAW59606.1 .
    BC117114 mRNA. Translation: AAI17115.1 .
    BC143667 mRNA. Translation: AAI43668.1 .
    CCDSi CCDS13817.1. [Q12824-1 ]
    CCDS46671.1. [Q12824-2 ]
    PIRi S54705.
    RefSeqi NP_001007469.1. NM_001007468.1. [Q12824-2 ]
    NP_003064.2. NM_003073.3. [Q12824-1 ]
    UniGenei Hs.534350.

    3D structure databases

    ProteinModelPortali Q12824.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112482. 112 interactions.
    DIPi DIP-27550N.
    IntActi Q12824. 31 interactions.
    MINTi MINT-94943.
    STRINGi 9606.ENSP00000263121.

    PTM databases

    PhosphoSitei Q12824.

    Polymorphism databases

    DMDMi 51338799.

    Proteomic databases

    MaxQBi Q12824.
    PaxDbi Q12824.
    PRIDEi Q12824.

    Protocols and materials databases

    DNASUi 6598.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263121 ; ENSP00000263121 ; ENSG00000099956 . [Q12824-1 ]
    ENST00000407422 ; ENSP00000383984 ; ENSG00000099956 . [Q12824-2 ]
    GeneIDi 6598.
    KEGGi hsa:6598.
    UCSCi uc002zya.3. human. [Q12824-1 ]
    uc002zyc.3. human. [Q12824-2 ]

    Organism-specific databases

    CTDi 6598.
    GeneCardsi GC22P024129.
    GeneReviewsi SMARCB1.
    HGNCi HGNC:11103. SMARCB1.
    HPAi CAB009196.
    HPA018248.
    HPA019127.
    MIMi 162091. phenotype.
    601607. gene.
    609322. phenotype.
    614608. phenotype.
    neXtProti NX_Q12824.
    Orphaneti 99966. Atypical teratoid tumor.
    1465. Coffin-Siris syndrome.
    263662. Familial multiple meningioma.
    231108. Familial rhabdoid tumor.
    93921. Neurofibromatosis type 3.
    PharmGKBi PA35953.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG291299.
    HOGENOMi HOG000015760.
    HOVERGENi HBG011709.
    KOi K11648.
    PhylomeDBi Q12824.
    TreeFami TF105993.

    Miscellaneous databases

    ChiTaRSi SMARCB1. human.
    GeneWikii SMARCB1.
    GenomeRNAii 6598.
    NextBioi 25665.
    PROi Q12824.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12824.
    Bgeei Q12824.
    CleanExi HS_SMARCB1.
    Genevestigatori Q12824.

    Family and domain databases

    InterProi IPR006939. SNF5.
    IPR017393. SWI_SNF_chromatin_remodel_cplx.
    [Graphical view ]
    PANTHERi PTHR10019. PTHR10019. 1 hit.
    Pfami PF04855. SNF5. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038126. SWI_SNF. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5."
      Kalpana G.V., Marmon S., Wang W., Crabtree G.R., Goff S.P.
      Science 266:2002-2006(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN RDT.
    3. "The mouse ortholog of the human SMARCB1 gene encodes two splice forms."
      Bruder C.E., Dumanski J.P., Kedra D.
      Biochem. Biophys. Res. Commun. 257:886-890(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
    4. "Human Ini1 27bp deletion form."
      Tozaki H., Yasuda J., Iwakura Y.
      Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    6. "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 B).
      Tissue: Embryo.
    7. NIEHS SNPs program
      Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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 B).
      Tissue: Brain.
    10. "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex."
      Wang W., Cote J., Xue Y., Zhou S., Khavari P.A., Biggar S.R., Muchardt C., Kalpana G.V., Goff S.P., Yaniv M., Workman J.L., Crabtree G.R.
      EMBO J. 15:5370-5382(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN BAF COMPLEX.
    11. "Epstein-Barr virus nuclear protein 2 (EBNA2) binds to a component of the human SNF-SWI complex, hSNF5/Ini1."
      Wu D.Y., Kalpana G.V., Goff S.P., Schubach W.H.
      J. Virol. 70:6020-6028(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH EPSTEIN-BARR VIRUS EBNA2.
    12. "Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region."
      Morozov A., Yung E., Kalpana G.V.
      Proc. Natl. Acad. Sci. U.S.A. 95:1120-1125(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    13. "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins."
      Adler H.T., Chinery R., Wu D.Y., Kussick S.J., Payne J.M., Fornace A.J. Jr., Tkachuk D.C.
      Mol. Cell. Biol. 19:7050-7060(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PPP1R15A.
    14. "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function."
      Cheng S.-W., Davies K.P., Yung E., Beltran R.J., Yu J., Kalpana G.V.
      Nat. Genet. 22:102-105(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MYC.
    15. "Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA."
      Lee D., Sohn H., Kalpana G.V., Choe J.
      Nature 399:487-491(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HUMAN PAPILLOMAVIRUS-18 E1 PROTEIN.
    16. "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits."
      Phelan M.L., Sif S., Narlikar G.J., Kingston R.E.
      Mol. Cell 3:247-253(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    17. "Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors."
      Biegel J.A., Zhou J.-Y., Rorke L.B., Stenstrom C., Wainwright L.M., Fogelgren B.
      Cancer Res. 59:74-79(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    18. "The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity."
      Wu D.Y., Tkachuck D.C., Roberson R.S., Schubach W.H.
      J. Biol. Chem. 277:27706-27715(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PPP1R15A.
    19. "A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle."
      Versteege I., Medjkane S., Rouillard D., Delattre O.
      Oncogene 21:6403-6412(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN CELL CYCLE.
    20. "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.
    21. "P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells."
      Oruetxebarria I., Venturini F., Kekarainen T., Houweling A., Zuijderduijn L.M.P., Mohd-Sarip A., Vries R.G.J., Hoeben R.C., Verrijzer C.P.
      J. Biol. Chem. 279:3807-3816(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN CELL CYCLE.
    22. "Chromatin-remodeling factor INI1/hSNF5/BAF47 is involved in activation of the colony stimulating factor 1 promoter."
      Pan X., Song Z., Zhai L., Li X., Zeng X.
      Mol. Cells 20:183-188(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN ACTIVATION OF COLONY STIMULATING FACTOR 1 PROMOTER.
    23. "SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas."
      Modena P., Lualdi E., Facchinetti F., Galli L., Teixeira M.R., Pilotti S., Sozzi G.
      Cancer Res. 65:4012-4019(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    24. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-129, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    25. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    26. "Human SWI/SNF generates abundant, structurally altered dinucleosomes on polynucleosomal templates."
      Ulyanova N.P., Schnitzler G.R.
      Mol. Cell. Biol. 25:11156-11170(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION OF BAF COMPLEX IN CHROMATIN REMODELING.
    27. "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.
    28. Cited for: INVOLVEMENT IN SWNTS1.
    29. "Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas."
      Sestini R., Bacci C., Provenzano A., Genuardi M., Papi L.
      Hum. Mutat. 29:227-231(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SWNTS1.
    30. Cited for: VARIANTS MRD15 LYS-364 DEL AND HIS-377.

    Entry informationi

    Entry nameiSNF5_HUMAN
    AccessioniPrimary (citable) accession number: Q12824
    Secondary accession number(s): O75784
    , O95474, Q17S11, Q38GA1, Q76N08, Q9UBH2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: August 16, 2004
    Last modified: October 1, 2014
    This is version 145 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 22
      Human chromosome 22: 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