Q12824 (SNF5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 117.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 385 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.9 Ref.13 Ref.16 Ref.17 Ref.18 Ref.19 Ref.22 |
| Subunit structure | 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 stimulates 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. Ref.8 Ref.10 Ref.11 Ref.12 Ref.15 |
| Subcellular location | |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.23 |
| Involvement in disease | Defects in SMARCB1 are a cause of rhabdoid tumor predisposition syndrome type 1 (RTPS1) [MIM:609322]; also known as malignant rhabdoid tumor (MRT). RDT are a highly malignant group of neoplasms that usually occur in early childhood. SMARCB1/INI1 is also frequently inactivated in epithelioid sarcomas. Ref.14 Ref.20 Defects in SMARCB1 are a cause of schwannomatosis (SCHWA) [MIM:162091]; also called congenital cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and dermal schwannomas may precede vestibular tumors in NF2-affected children. There have been several reports of individuals with multiple schwannomas who do not show evidence of vestibular schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other forms of neurofibromatosis. Ref.14 Ref.20 Ref.25 Ref.26 |
| Sequence similarities | Belongs to the SNF5 family. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ARID2 | Q68CP9 | 3 | EBI-358419,EBI-637818 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform A (identifier: Q12824-1) 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. | ||||||
| Isoform B (identifier: Q12824-2) Also known as: INI1B; The sequence of this isoform differs from the canonical sequence as follows: 69-77: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 385 | 385 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 | PRO_0000205948 | |||||
Regions | |||||||||
| Repeat | 186 – 245 | 60 | 1 | ||||||
| Repeat | 259 – 319 | 61 | 2 | ||||||
| Region | 106 – 183 | 78 | DNA-binding Potential | ||||||
| Region | 183 – 243 | 61 | HIV-1 integrase-binding | ||||||
| Region | 186 – 319 | 134 | 2 X approximate tandem repeats | ||||||
| Region | 186 – 245 | 60 | MYC-binding | ||||||
| Region | 304 – 318 | 15 | Interaction with PPP1R15A | ||||||
Amino acid modifications | |||||||||
| Modified residue | 129 | 1 | Phosphoserine Ref.23 | ||||||
Natural variations | |||||||||
| Alternative sequence | 69 – 77 | 9 | Missing in isoform B. | VSP_004399 | |||||
Experimental info | |||||||||
| Sequence conflict | 136 | 1 | P → S Ref.1 | ||||||
| Sequence conflict | 136 | 1 | P → S Ref.3 | ||||||
| Sequence conflict | 378 | 1 | L → E in CAA76639. Ref.3 | ||||||
| Sequence conflict | 382 | 1 | A → G Ref.1 | ||||||
| Sequence conflict | 382 | 1 | A → G Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 7801128] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A). |
| [2] | "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: 10208879] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B). |
| [3] | "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer." Versteege I., Sevenet N., Lange J., Rousseau-Merck M.-F., Ambros P., Handgretinger R., Aurias A., Delattre O. Nature 394:203-206(1998) [PubMed: 9671307] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN RDT. |
| [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] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A). |
| [6] | NIEHS SNPs program Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [7] | "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: 8895581] [Abstract] Cited for: IDENTIFICATION IN BAF COMPLEX. |
| [8] | "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: 8709224] [Abstract] Cited for: INTERACTION WITH EPSTEIN-BARR VIRUS EBNA2. |
| [9] | "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: 9448295] [Abstract] Cited for: FUNCTION. |
| [10] | "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: 10490642] [Abstract] Cited for: INTERACTION WITH PPP1R15A. |
| [11] | "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: 10319872] [Abstract] Cited for: INTERACTION WITH MYC. |
| [12] | "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: 10365963] [Abstract] Cited for: INTERACTION WITH HUMAN PAPILLOMAVIRUS-18 E1 PROTEIN. |
| [13] | "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: 10078207] [Abstract] Cited for: FUNCTION. |
| [14] | "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: 9892189] [Abstract] Cited for: DISEASE. |
| [15] | "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: 12016208] [Abstract] Cited for: INTERACTION WITH PPP1R15A. |
| [16] | "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: 12226744] [Abstract] Cited for: FUNCTION IN CELL CYCLE. |
| [17] | "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: 12837248] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE WINAC COMPLEX, FUNCTION. |
| [18] | "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: 14604992] [Abstract] Cited for: FUNCTION IN CELL CYCLE. |
| [19] | "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: 16267391] [Abstract] Cited for: FUNCTION IN ACTIVATION OF COLONY STIMULATING FACTOR 1 PROMOTER. |
| [20] | "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: 15899790] [Abstract] Cited for: DISEASE. |
| [21] | "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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [22] | "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: 16314535] [Abstract] Cited for: FUNCTION OF BAF COMPLEX IN CHROMATIN REMODELING. |
| [23] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-129, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [24] | "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: 18765789] [Abstract] Cited for: IDENTIFICATION IN THE BAF COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY. |
| [25] | "Germline mutation of INI1/SMARCB1 in familial schwannomatosis." Hulsebos T.J.M., Plomp A.S., Wolterman R.A., Robanus-Maandag E.C., Baas F., Wesseling P. Am. J. Hum. Genet. 80:805-810(2007) [PubMed: 17357086] [Abstract] Cited for: INVOLVEMENT IN SCHWA. |
| [26] | "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: 18072270] [Abstract] Cited for: INVOLVEMENT IN SCHWA. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U04847 mRNA. Translation: AAA81905.1. AJ011738 mRNA. Translation: CAA09759.1. AJ011737 mRNA. Translation: CAA09758.1. Y17118 Y17126 Genomic DNA. Translation: CAA76639.1. Sequence problems.AB017523 mRNA. Translation: BAC77068.1. CR456581 mRNA. Translation: CAG30467.1. DQ230988 Genomic DNA. Translation: ABB02184.1. |
| IPI | IPI00029695. IPI00745019. |
| PIR | S54705. |
| RefSeq | NP_001007469.1. NM_001007468.1. NP_003064.2. NM_003073.3. |
| UniGene | Hs.534350. |
3D structure databases | |
| ProteinModelPortal | Q12824. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-27550N. |
| IntAct | Q12824. 11 interactions. |
| MINT | MINT-94943. |
| STRING | Q12824. |
PTM databases | |
| PhosphoSite | Q12824. |
Polymorphism databases | |
| DMDM | 51338799. |
Proteomic databases | |
| PRIDE | Q12824. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000263121; ENSP00000263121; ENSG00000099956. |
| GeneID | 6598. |
| KEGG | hsa:6598. |
| UCSC | uc002zyb.1. human. |
Organism-specific databases | |
| CTD | 6598. |
| GeneCards | GC22P024129. |
| H-InvDB | HIX0016299. |
| HGNC | HGNC:11103. SMARCB1. |
| HPA | CAB009196. HPA018248. HPA019127. |
| MIM | 162091. phenotype. 601607. gene. 609322. phenotype. |
| neXtProt | NX_Q12824. |
| Orphanet | 263662. Familial multiple meningioma. 231108. Familial rhabdoid tumor. 93921. Neurofibromatosis type 3. 69077. Rhabdoid tumor. |
| PharmGKB | PA35953. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG16826. |
| GeneTree | ENSGT00440000038585. |
| HOVERGEN | HBG011709. |
| OrthoDB | EOG4BK53X. |
| PhylomeDB | Q12824. |
Gene expression databases | |
| ArrayExpress | Q12824. |
| Bgee | Q12824. |
| CleanEx | HS_SMARCB1. |
| Genevestigator | Q12824. |
| GermOnline | ENSG00000099956. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006939. SNF5. IPR017393. SWI_SNF_chromatin_remodel_cplx. [Graphical view] |
| KO | K11648. |
| PANTHER | PTHR10019. SNF5. 1 hit. |
| Pfam | PF04855. SNF5. 2 hits. [Graphical view] |
| PIRSF | PIRSF038126. SWI_SNF. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 25665. |
| SOURCE | Search... |
Entry information
| Entry name | SNF5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q12824 Secondary accession number(s): O75784 Q9UBH2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with