• Gene id: 8467

Gene Summary

• Gene Symbol: SMARCA5   Gene   UCSC   Ensembl
• Aliases: ISWI, SNF2H, WCRF135, hISWI, hSNF2H
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
• Alternate names: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5, sucrose nonfermenting protein 2 homolog, sucrose nonfermenting-like 5,
• Gene location: 4q31.21 (143513500: 143557485)     Exons: 24     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T
• OMIM: 603375

Protein Summary

• Protein general information: O60264  
  • Name: SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A member 5 (SWI/SNF related matrix associated actin dependent regulator of chromatin A5) (EC 3.6.4. ) (Sucrose nonfermenting protein 2 homolog) (hSNF2H)
  • Length: 1052  
  • Mass: 121905
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MSSAAEPPPPPPPESAPSKPAASIASGGSNSSNKGGPEGVAAQAVASAASAGPADAEMEEIFDDASPGKQKEIQE
  PDPTYEEKMQTDRANRFEYLLKQTELFAHFIQPAAQKTPTSPLKMKPGRPRIKKDEKQNLLSVGDYRHRRTEQEE
  DEELLTESSKATNVCTRFEDSPSYVKWGKLRDYQVRGLNWLISLYENGINGILADEMGLGKTLQTISLLGYMKHY
  RNIPGPHMVLVPKSTLHNWMSEFKRWVPTLRSVCLIGDKEQRAAFVRDVLLPGEWDVCVTSYEMLIKEKSVFKKF
  NWRYLVIDEAHRIKNEKSKLSEIVREFKTTNRLLLTGTPLQNNLHELWSLLNFLLPDVFNSADDFDSWFDTNNCL
  GDQKLVERLHMVLRPFLLRRIKADVEKSLPPKKEVKIYVGLSKMQREWYTRILMKDIDILNSAGKMDKMRLLNIL
  MQLRKCCNHPYLFDGAEPGPPYTTDMHLVTNSGKMVVLDKLLPKLKEQGSRVLIFSQMTRVLDILEDYCMWRNYE
  YCRLDGQTPHDERQDSINAYNEPNSTKFVFMLSTRAGGLGINLATADVVILYDSDWNPQVDLQAMDRAHRIGQTK
  TVRVFRFITDNTVEERIVERAEMKLRLDSIVIQQGRLVDQNLNKIGKDEMLQMIRHGATHVFASKESEITDEDID
  GILERGAKKTAEMNEKLSKMGESSLRNFTMDTESSVYNFEGEDYREKQKIAFTEWIEPPKRERKANYAVDAYFRE
  ALRVSEPKAPKAPRPPKQPNVQDFQFFPPRLFELLEKEILFYRKTIGYKVPRNPELPNAAQAQKEEQLKIDEAES
  LNDEELEEKEKLLTQGFTNWNKRDFNQFIKANEKWGRDDIENIAREVEGKTPEEVIEYSAVFWERCNELQDIEKI
  MAQIERGEARIQRRISIKKALDTKIGRYKAPFHQLRISYGTNKGKNYTEEEDRFLICMLHKLGFDKENVYDELRQ
  CIRNSPQFRFDWFLKSRTAMELQRRCNTLITLIERENMELEEKEKAEKKKRGPKPSTQKRKMDGAPDGRGRKKKL
  KL

• Structural information:
  • Protein Domains: (192..35-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (487..63-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542-)
    (840..89-)
    (/note="SANT-1)
    (/evidence="ECO:0000255|-)
  • Interpro: IPR020838  IPR014001  IPR001650  IPR009057  IPR015194   IPR036306  IPR029915  IPR027417  IPR001005  IPR017884  IPR015195  IPR038718  IPR000330  
  • Prosite: PS51192 PS51194 PS51293
  • CDD: cd00167
  • PDB: 6NE3
  • PDBsum: 6NE3
  • DIP: 33204
  • STRING: ENSP00000283131
• Other Databases: GeneCards:  SMARCA5  Malacards:  SMARCA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008094	DNA-dependent ATPase activity	IBA	molecular function
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016584	nucleosome positioning	IBA	biological process
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0016589	NURF complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006338	chromatin remodeling	IEA	biological process
GO:0016589	NURF complex	IEA	cellular component
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0031491	nucleosome binding	IEA	molecular function
GO:0043044	ATP-dependent chromatin remodeling	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	TAS	molecular function
GO:0006338	chromatin remodeling	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0034080	CENP-A containing nucleosome assembly	TAS	biological process
GO:0045815	positive regulation of gene expression, epigenetic	TAS	biological process
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:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0031010	ISWI-type complex	IEA	cellular component
GO:0006333	chromatin assembly or disassembly	IEA	biological process
GO:0000183	rDNA heterochromatin assembly	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0006338	chromatin remodeling	IEA	biological process
GO:0005677	chromatin silencing complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043596	nuclear replication fork	IDA	colocalizes with
GO:0043044	ATP-dependent chromatin remodeling	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006334	nucleosome assembly	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0000793	condensed chromosome	IDA	cellular component
GO:0042393	histone binding	IDA	contributes to
GO:0006352	DNA-templated transcription, initiation	IDA	biological process
GO:0016887	ATPase activity	IDA	molecular function
GO:0016584	nucleosome positioning	IDA	biological process
GO:0031213	RSF complex	IPI	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881