• Gene id: 6599

Gene Summary

• Gene Symbol: SMARCC1   Gene   UCSC   Ensembl
• Aliases: BAF155, CRACC1, Rsc8, SRG3, SWI3
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
• Alternate names: SWI/SNF complex subunit SMARCC1, BRG1-associated factor 155, SWI/SNF complex 155 kDa subunit, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1, chromatin remodeling complex BAF155 subunit, mammalian chromatin remode,
• Gene location: 3p21.31 (47781892: 47585268)     Exons: 28     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T
• OMIM: 601732

Protein Summary

• Protein general information: Q92922  
  • Name: SWI/SNF complex subunit SMARCC1 (BRG1 associated factor 155) (BAF155) (SWI/SNF complex 155 kDa subunit) (SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily C member 1)
  • Length: 1105  
  • Mass: 122867
  • Tissue specificity: Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas.
• Sequence:

  MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNK
  TLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVE
  MFMNIEKTLVQNNCLTRPNIYLIPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRK
  EKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKPWKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRI
  STKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKEEDEQEDLTKDMEDPT
  PVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNVTEQTNHII
  IPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRV
  HAFLEQWGLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFG
  LRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSD
  ASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGK
  VDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETDEGDKAQDGENEKNSEKEQDSEVS
  EDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLV
  ETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRARQQMEQQQHGQNPQQAHQHSG
  GPGLAPLGAAGHPGMMPHQQPPPYPLMHHQMPPPHPPQPGQIPGPGSMMPGQHMPGRMIPTVAANIHPSGSGPTP
  PGMPPMPGNILGPRVPLTAPNGMYPPPPQQQPPPPPPADGVPPPPAPGPPASAAP

• Structural information:
  • Protein Domains: (449..54-)
    (/note="SWIRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00247-)
    (618..66-)
    (/note="SANT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624"-)
  • Interpro: IPR030087  IPR036420  IPR000953  IPR009057  IPR001005   IPR017884  IPR032451  IPR032450  IPR007526  IPR032448  IPR036388  
  • Prosite: PS51293 PS50934
  • PDB: 2YUS 5GJK
  • PDBsum: 2YUS 5GJK
  • DIP: 27545 33044
  • STRING: ENSP00000254480
• Other Databases: GeneCards:  SMARCC1  Malacards:  SMARCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071564	npBAF complex	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0016514	SWI/SNF complex	IBA	cellular component
GO:0071565	nBAF complex	IBA	cellular component
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0071564	npBAF complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071565	nBAF complex	ISS	cellular component
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030850	prostate gland development	IEA	biological process
GO:0001741	XY body	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0071564	npBAF complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071565	nBAF complex	IEA	cellular component
GO:0003713	transcription coactivator activity	NAS	molecular function
GO:0006337	nucleosome disassembly	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0043044	ATP-dependent chromatin remodeling	HDA	biological process
GO:0000790	nuclear chromatin	HDA	cellular component
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	HDA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	HDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031492	nucleosomal DNA binding	HDA	contributes to

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq