• Gene id: 6594

Gene Summary

• Gene Symbol: SMARCA1   Gene   UCSC   Ensembl
• Aliases: ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
• Alternate names: probable global transcription activator SNF2L1, ATP-dependent helicase SMARCA1, SNF2-like 1, global transcription activator homologous sequence, nucleosome-remodeling factor subunit SNF2L, sucrose nonfermenting 2-like protein 1,
• Gene location: Xq25-q26.1 (129523519: 129446500)     Exons: 25     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in
• OMIM: 300012

Protein Summary

• Protein general information: P28370  
  • Name: Probable global transcription activator SNF2L1 (EC 3.6.4. ) (ATP dependent helicase SMARCA1) (Nucleosome remodeling factor subunit SNF2L) (SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A member 1)
  • Length: 1054  
  • Mass: 122605
• Sequence:

  MEQDTAAVAATVAAADATATIVVIEDEQPGPSTSQEEGAAAAATEATAATEKGEKKKEKNVSSFQLKLAAKAPKS
  EKEMDPEYEEKMKADRAKRFEFLLKQTELFAHFIQPSAQKSPTSPLNMKLGRPRIKKDEKQSLISAGDYRHRRTE
  QEEDEELLSESRKTSNVCIRFEVSPSYVKGGPLRDYQIRGLNWLISLYENGVNGILADEMGLGKTLQTIALLGYL
  KHYRNIPGPHMVLVPKSTLHNWMNEFKRWVPSLRVICFVGDKDARAAFIRDEMMPGEWDVCVTSYEMVIKEKSVF
  KKFHWRYLVIDEAHRIKNEKSKLSEIVREFKSTNRLLLTGTPLQNNLHELWALLNFLLPDVFNSADDFDSWFDTK
  NCLGDQKLVERLHAVLKPFLLRRIKTDVEKSLPPKKEIKIYLGLSKMQREWYTKILMKDIDVLNSSGKMDKMRLL
  NILMQLRKCCNHPYLFDGAEPGPPYTTDEHIVSNSGKMVVLDKLLAKLKEQGSRVLIFSQMTRLLDILEDYCMWR
  GYEYCRLDGQTPHEEREDKFLEVEFLGQREAIEAFNAPNSSKFIFMLSTRAGGLGINLASADVVILYDSDWNPQV
  DLQAMDRAHRIGQKKPVRVFRLITDNTVEERIVERAEIKLRLDSIVIQQGRLIDQQSNKLAKEEMLQMIRHGATH
  VFASKESELTDEDITTILERGEKKTAEMNERLQKMGESSLRNFRMDIEQSLYKFEGEDYREKQKLGMVEWIEPPK
  RERKANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPA
  LAQREEQKKIDGAEPLTPEETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSA
  VFWERCNELQDIEKIMAQIERGEARIQRRISIKKALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLH
  KMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLIEKENMEIEERERAEKKKRATKTPMVKF
  SAFS

• Structural information:
  • Protein Domains: (195..36-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (490..65-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542-)
    (855..90-)
    (/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
  • DIP: 57685
  • STRING: ENSP00000360162
• Other Databases: GeneCards:  SMARCA1  Malacards:  SMARCA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008134	transcription factor binding	IPI	molecular function
GO:0006338	chromatin remodeling	IDA	biological process
GO:0007420	brain development	IMP	biological process
GO:0008094	DNA-dependent ATPase activity	IDA	contributes to
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0016584	nucleosome positioning	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0036310	annealing helicase activity	IDA	molecular function
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:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	TAS	molecular function
GO:0090537	CERF complex	IDA	cellular component
GO:0070615	nucleosome-dependent ATPase activity	IDA	contributes to
GO:0043044	ATP-dependent chromatin remodeling	IDA	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0000733	DNA strand renaturation	IEA	biological process

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881