• Gene id: 6604

Gene Summary

• Gene Symbol: SMARCD3   Gene   UCSC   Ensembl
• Aliases: BAF60C, CRACD3, Rsc6p
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
• Alternate names: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3, 60 kDa BRG-1/Brm-associated factor subunit C, BRG1-associated factor 60C, SWI/SNF complex 60 kDa subunit C, Swp73-like protein, chromatin remodeling complex BAF60C s,
• Gene location: 7q36.1 (151277451: 151238779)     Exons: 17     NC_000007.14
• 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: 601737

Protein Summary

• Protein general information: Q6STE5  
  • Name: SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily D member 3 (60 kDa BRG 1/Brm associated factor subunit C) (BRG1 associated factor 60C) (BAF60C)
  • Length: 483  
  • Mass: 55016
  • Tissue specificity: Isoform 2 and isoform 1 are expressed in brain, heart, kidney, placenta, prostate, salivary gland, spleen, testis, thyroid, trachea and uterus. Isoform 1 is also expressed in skeletal muscle and adipose tissue.
• Sequence:

  MAADEVAGGARKATKSKLFEFLVHGVRPGMPSGARMPHQGAPMGPPGSPYMGSPAVRPGLAPAGMEPARKRAAPP
  PGQSQAQSQGQPVPTAPARSRSAKRRKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRVDIQEALKRP
  MKQKRKLRLYISNTFNPAKPDAEDSDGSIASWELRVEGKLLDDPSKQKRKFSSFFKSLVIELDKDLYGPDNHLVE
  WHRTPTTQETDGFQVKRPGDLSVRCTLLLMLDYQPPQFKLDPRLARLLGLHTQSRSAIVQALWQYVKTNRLQDSH
  DKEYINGDKYFQQIFDCPRLKFSEIPQRLTALLLPPDPIVINHVISVDPSDQKKTACYDIDVEVEEPLKGQMSSF
  LLSTANQQEISALDSKIHETIESINQLKIQRDFMLSFSRDPKGYVQDLLRSQSRDLKVMTDVAGNPEEERRAEFY
  HQPWSQEAVSRYFYCKIQQRRQELEQSLVVRNT

• Structural information:
  • Protein Domains: (259..33-)
    (/note="SWIB"-)
  • Interpro: IPR038043  IPR019835  IPR036885  IPR003121  
  • DIP: 33012
  • STRING: ENSP00000262188
• Other Databases: GeneCards:  SMARCD3  Malacards:  SMARCD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0071564	npBAF complex	ISS	cellular component
GO:0071565	nBAF complex	ISS	cellular component
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0071564	npBAF complex	IEA	cellular component
GO:0071565	nBAF complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0071564	npBAF complex	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0003407	neural retina development	IEA	biological process
GO:0003139	secondary heart field specification	IEA	biological process
GO:0051152	positive regulation of smooth muscle cell differentiation	IEA	biological process
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0071565	nBAF complex	IEA	cellular component
GO:0043393	regulation of protein binding	IEA	biological process
GO:0042692	muscle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003219	cardiac right ventricle formation	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	NAS	molecular function
GO:0002052	positive regulation of neuroblast proliferation	IDA	biological process
GO:0006337	nucleosome disassembly	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0071564	npBAF complex	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006338	chromatin remodeling	IC	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0003407	neural retina development	IEP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0016514	SWI/SNF complex	NAS	cellular component

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq