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Q12824 (SNF5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 144. 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:SMARCB1
Synonyms:BAF47, INI1, SNF5L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length385 AA.
Sequence statusComplete.
Protein existenceEvidence 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.12 Ref.16 Ref.19 Ref.20 Ref.21 Ref.22 Ref.26

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 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. Ref.10 Ref.11 Ref.13 Ref.14 Ref.15 Ref.18 Ref.20 Ref.27

Subcellular location

Nucleus.

Involvement in disease

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. Ref.17 Ref.23

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.17 Ref.23 Ref.28 Ref.29

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.23 Ref.30

Sequence similarities

Belongs to the SNF5 family.

Ontologies

Keywords
   Biological processCell cycle
Host-virus interaction
Neurogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Mental retardation
Tumor suppressor
   DomainRepeat
   Molecular functionActivator
Chromatin regulator
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP-dependent chromatin remodeling

Inferred from direct assay PubMed 16217013. Source: UniProt

DNA integration

Traceable author statement Ref.1. Source: ProtInc

DNA repair

Inferred from Biological aspect of Ancestor. Source: RefGenome

blastocyst hatching

Inferred from electronic annotation. Source: Ensembl

cell differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

chromatin remodeling

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

mitotic cell cycle phase transition

Inferred from Biological aspect of Ancestor. Source: RefGenome

negative regulation of cell proliferation

Inferred from Biological aspect of Ancestor. Source: RefGenome

nervous system development

Inferred from electronic annotation. Source: UniProtKB-KW

nucleosome disassembly

Inferred from direct assay Ref.10. Source: BHF-UCL

positive regulation by host of viral transcription

Inferred from mutant phenotype PubMed 16687403. Source: BHF-UCL

positive regulation of sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 11950834. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 11950834. Source: BHF-UCL

regulation of transcription from RNA polymerase II promoter

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

single stranded viral RNA replication via double stranded DNA intermediate

Inferred from direct assay PubMed 14963118. Source: MGI

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentSWI/SNF complex

Inferred from direct assay PubMed 11078522. Source: UniProtKB

XY body

Inferred from electronic annotation. Source: Ensembl

nBAF complex

Inferred from sequence or structural similarity. Source: UniProtKB

npBAF complex

Inferred from sequence or structural similarity. Source: UniProtKB

nuclear chromatin

Inferred from direct assay PubMed 16217013. Source: UniProt

nucleolus

Inferred from direct assay. Source: HPA

nucleoplasm

Traceable author statement Ref.1. Source: ProtInc

nucleus

Inferred from direct assay. Source: HPA

protein complex

Inferred from direct assay PubMed 16217013. Source: UniProt

   Molecular_functionTat protein binding

Inferred from physical interaction PubMed 16687403. Source: BHF-UCL

p53 binding

Inferred from physical interaction PubMed 11950834. Source: BHF-UCL

protein binding

Inferred from physical interaction Ref.16PubMed 12368262PubMed 15985610PubMed 16601680PubMed 23540691Ref.15. Source: IntAct

transcription coactivator activity

Inferred from mutant phenotype PubMed 16687403. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 385385SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
PRO_0000205948

Regions

Repeat186 – 245601
Repeat259 – 319612
Region106 – 18378DNA-binding Potential
Region183 – 24361HIV-1 integrase-binding
Region186 – 3191342 X approximate tandem repeats
Region186 – 24560MYC-binding
Region304 – 31815Interaction with PPP1R15A

Amino acid modifications

Modified residue1291Phosphoserine Ref.24

Natural variations

Alternative sequence69 – 779Missing in isoform B.
VSP_004399
Natural variant3641Missing in MRD15. Ref.30
VAR_068178
Natural variant3771R → H in MRD15. Ref.30
VAR_068179

Experimental info

Sequence conflict1361P → S Ref.1
Sequence conflict1361P → S in CAA76639. Ref.2
Sequence conflict3781L → E in CAA76639. Ref.2
Sequence conflict3821A → G Ref.1
Sequence conflict3821A → G in CAA76639. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform A (INI1A) [UniParc].

Last modified August 16, 2004. Version 2.
Checksum: B7BCA26875BD943D

FASTA38544,141
        10         20         30         40         50         60 
MMMMALSKTF GQKPVKFQLE DDGEFYMIGS EVGNYLRMFR GSLYKRYPSL WRRLATVEER 

        70         80         90        100        110        120 
KKIVASSHGK KTKPNTKDHG YTTLATSVTL LKASEVEEIL DGNDEKYKAV SISTEPPTYL 

       130        140        150        160        170        180 
REQKAKRNSQ WVPTLPNSSH HLDAVPCSTT INRNRMGRDK KRTFPLCFDD HDPAVIHENA 

       190        200        210        220        230        240 
SQPEVLVPIR LDMEIDGQKL RDAFTWNMNE KLMTPEMFSE ILCDDLDLNP LTFVPAIASA 

       250        260        270        280        290        300 
IRQQIESYPT DSILEDQSDQ RVIIKLNIHV GNISLVDQFE WDMSEKENSP EKFALKLCSE 

       310        320        330        340        350        360 
LGLGGEFVTT IAYSIRGQLS WHQKTYAFSE NPLPTVEIAI RNTGDADQWC PLLETLTDAE 

       370        380 
MEKKIRDQDR NTRRMRRLAN TAPAW 

« Hide

Isoform B (INI1B) [UniParc].

Checksum: 6C7233EAFBC389A9
Show »

FASTA37643,158

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
[2]"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] [Europe PMC] [Abstract]
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]"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] [Europe PMC] [Abstract]
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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
Tissue: Embryo.
[7]NIEHS SNPs program
Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton 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].
[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]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-129, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[25]"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].
[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]"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] [Europe PMC] [Abstract]
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]"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: VARIANTS MRD15 LYS-364 DEL AND HIS-377.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U04847 mRNA. Translation: AAA81905.1.
Y17118 expand/collapse EMBL AC list , 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.
CCDSCCDS13817.1. [Q12824-1]
CCDS46671.1. [Q12824-2]
PIRS54705.
RefSeqNP_001007469.1. NM_001007468.1. [Q12824-2]
NP_003064.2. NM_003073.3. [Q12824-1]
UniGeneHs.534350.

3D structure databases

ProteinModelPortalQ12824.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112482. 112 interactions.
DIPDIP-27550N.
IntActQ12824. 31 interactions.
MINTMINT-94943.
STRING9606.ENSP00000263121.

PTM databases

PhosphoSiteQ12824.

Polymorphism databases

DMDM51338799.

Proteomic databases

MaxQBQ12824.
PaxDbQ12824.
PRIDEQ12824.

Protocols and materials databases

DNASU6598.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263121; ENSP00000263121; ENSG00000099956. [Q12824-1]
ENST00000407422; ENSP00000383984; ENSG00000099956. [Q12824-2]
GeneID6598.
KEGGhsa:6598.
UCSCuc002zya.3. human. [Q12824-1]
uc002zyc.3. human. [Q12824-2]

Organism-specific databases

CTD6598.
GeneCardsGC22P024129.
GeneReviewsSMARCB1.
HGNCHGNC:11103. SMARCB1.
HPACAB009196.
HPA018248.
HPA019127.
MIM162091. phenotype.
601607. gene.
609322. phenotype.
614608. phenotype.
neXtProtNX_Q12824.
Orphanet99966. Atypical teratoid tumor.
1465. Coffin-Siris syndrome.
263662. Familial multiple meningioma.
231108. Familial rhabdoid tumor.
93921. Neurofibromatosis type 3.
PharmGKBPA35953.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG291299.
HOGENOMHOG000015760.
HOVERGENHBG011709.
KOK11648.
PhylomeDBQ12824.
TreeFamTF105993.

Gene expression databases

ArrayExpressQ12824.
BgeeQ12824.
CleanExHS_SMARCB1.
GenevestigatorQ12824.

Family and domain databases

InterProIPR006939. SNF5.
IPR017393. SWI_SNF_chromatin_remodel_cplx.
[Graphical view]
PANTHERPTHR10019. PTHR10019. 1 hit.
PfamPF04855. SNF5. 1 hit.
[Graphical view]
PIRSFPIRSF038126. SWI_SNF. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSMARCB1. human.
GeneWikiSMARCB1.
GenomeRNAi6598.
NextBio25665.
PROQ12824.
SOURCESearch...

Entry information

Entry nameSNF5_HUMAN
AccessionPrimary (citable) accession number: Q12824
Secondary accession number(s): O75784 expand/collapse secondary AC list , O95474, Q17S11, Q38GA1, Q76N08, Q9UBH2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 16, 2004
Last modified: July 9, 2014
This is version 144 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 22

Human chromosome 22: entries, gene names and cross-references to MIM