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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5

Gene

SMARCA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA replication processes. Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing.7 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi205 – 212ATPCurated8

GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • ATP binding Source: UniProtKB
  • DNA binding Source: UniProtKB
  • helicase activity Source: ProtInc
  • nucleosome binding Source: InterPro

GO - Biological processi

  • ATP-dependent chromatin remodeling Source: BHF-UCL
  • CENP-A containing nucleosome assembly Source: Reactome
  • chromatin modification Source: UniProtKB-KW
  • chromatin remodeling Source: UniProtKB
  • chromatin silencing at rDNA Source: Ensembl
  • DNA-templated transcription, initiation Source: UniProtKB
  • double-strand break repair Source: Ensembl
  • nucleosome assembly Source: UniProtKB
  • nucleosome positioning Source: UniProtKB
  • positive regulation of gene expression, epigenetic Source: Reactome
  • positive regulation of transcription, DNA-templated Source: Ensembl
  • regulation of transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Helicase, Hydrolase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153147-MONOMER.
ReactomeiR-HSA-427413. NoRC negatively regulates rRNA expression.
R-HSA-5250924. B-WICH complex positively regulates rRNA expression.
R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
R-HSA-606279. Deposition of new CENPA-containing nucleosomes at the centromere.

Names & Taxonomyi

Protein namesi
Recommended name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (EC:3.6.4.-)
Short name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5
Alternative name(s):
Sucrose nonfermenting protein 2 homolog
Short name:
hSNF2H
Gene namesi
Name:SMARCA5
Synonyms:SNF2H, WCRF135
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:11101. SMARCA5.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation1 Publication

GO - Cellular componenti

  • chromatin silencing complex Source: Ensembl
  • condensed chromosome Source: UniProtKB
  • nucleolus Source: HPA
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • NURF complex Source: UniProtKB
  • RSF complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi211K → R: Loss of ATP hydrolysis and no association of the SMARCA5/cohesin/NuRD complex with chromatin. 1 Publication1

Organism-specific databases

DisGeNETi8467.
MalaCardsiSMARCA5.
OpenTargetsiENSG00000153147.
Orphaneti370334. Extraskeletal Ewing sarcoma.
PharmGKBiPA35951.

Polymorphism and mutation databases

BioMutaiSMARCA5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000743542 – 1052SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5Add BLAST1051

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei66PhosphoserineCombined sources1
Modified residuei113PhosphothreonineCombined sources1
Modified residuei116PhosphoserineCombined sources1
Modified residuei137PhosphoserineCombined sources1
Modified residuei171PhosphoserineCombined sources1
Modified residuei440N6-acetyllysineCombined sources1
Modified residuei755PhosphoserineCombined sources1
Modified residuei825PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO60264.
MaxQBiO60264.
PaxDbiO60264.
PeptideAtlasiO60264.
PRIDEiO60264.

PTM databases

iPTMnetiO60264.
PhosphoSitePlusiO60264.
SwissPalmiO60264.

Expressioni

Tissue specificityi

Ubiquitously expressed.

Developmental stagei

Overexpressed in CD34-positive erythrocyte progenitor cells in acute myeloid leukemia. Down-regulation correlates with hematologic remission following chemotherapy.1 Publication

Gene expression databases

BgeeiENSG00000153147.
CleanExiHS_SMARCA5.
GenevisibleiO60264. HS.

Organism-specific databases

HPAiCAB005227.
HPA008751.

Interactioni

Subunit structurei

Catalytic subunit of the four known chromatin-remodeling complexes: CHRAC, RSF, ACF/WCRF, and WICH. Each complex contains subunits which may regulate the specificity or catalytic activity of SMARCA5. ACF/WCRF contains BAZ1A; CHRAC contains BAZ1A, CHRAC1, and POLE3; RSF contains RSF1; WICH contains BAZ1B/WSTF. SMARCA5 is the catalytic subunit of the NoRC chromatin-remodeling complex, which also contains BAZ2A/TIP5. The BAZ2A/TIP5 subunit of NoRC also interacts with DNMT1, DNMT3B and HDAC1, which allows NoRC to actively suppress rDNA transcription by a combination of nucleosome remodeling, histone deacetylation, and DNA methylation. Catalytic subunit of SMARCA5/cohesin/NuRD complexes. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with MYO1C (By similarity). Interacts with BEND3.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BAZ1AQ9NRL23EBI-352588,EBI-927511
BAZ1BQ9UIG06EBI-352588,EBI-927482
HIST2H4BP628052EBI-352588,EBI-302023
RSF1Q96T235EBI-352588,EBI-926768

Protein-protein interaction databases

BioGridi114045. 131 interactors.
DIPiDIP-33204N.
IntActiO60264. 52 interactors.
MINTiMINT-2981772.
STRINGi9606.ENSP00000283131.

Structurei

3D structure databases

ProteinModelPortaliO60264.
SMRiO60264.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini192 – 357Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST166
Domaini487 – 638Helicase C-terminalPROSITE-ProRule annotationAdd BLAST152
Domaini840 – 892SANT 1PROSITE-ProRule annotationAdd BLAST53
Domaini943 – 1007SANT 2PROSITE-ProRule annotationAdd BLAST65

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi308 – 311DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi7 – 13Poly-Pro7

Sequence similaritiesi

Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation
Contains 2 SANT domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0385. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00860000133761.
HOGENOMiHOG000192862.
HOVERGENiHBG056329.
InParanoidiO60264.
KOiK11654.
OMAiVCTRFEE.
OrthoDBiEOG091G01GJ.
PhylomeDBiO60264.
TreeFamiTF300674.

Family and domain databases

Gene3Di1.10.10.60. 2 hits.
3.40.50.300. 2 hits.
InterProiIPR020838. DBINO.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR009057. Homeodomain-like.
IPR029915. ISWI.
IPR015194. ISWI_HAND-dom.
IPR027417. P-loop_NTPase.
IPR001005. SANT/Myb.
IPR017884. SANT_dom.
IPR015195. SLIDE.
IPR000330. SNF2_N.
[Graphical view]
PANTHERiPTHR10799:SF691. PTHR10799:SF691. 3 hits.
PfamiPF13892. DBINO. 1 hit.
PF09110. HAND. 1 hit.
PF00271. Helicase_C. 1 hit.
PF09111. SLIDE. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00717. SANT. 2 hits.
[Graphical view]
SUPFAMiSSF101224. SSF101224. 1 hit.
SSF46689. SSF46689. 2 hits.
SSF52540. SSF52540. 2 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51293. SANT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O60264-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSAAEPPPP PPPESAPSKP AASIASGGSN SSNKGGPEGV AAQAVASAAS
60 70 80 90 100
AGPADAEMEE IFDDASPGKQ KEIQEPDPTY EEKMQTDRAN RFEYLLKQTE
110 120 130 140 150
LFAHFIQPAA QKTPTSPLKM KPGRPRIKKD EKQNLLSVGD YRHRRTEQEE
160 170 180 190 200
DEELLTESSK ATNVCTRFED SPSYVKWGKL RDYQVRGLNW LISLYENGIN
210 220 230 240 250
GILADEMGLG KTLQTISLLG YMKHYRNIPG PHMVLVPKST LHNWMSEFKR
260 270 280 290 300
WVPTLRSVCL IGDKEQRAAF VRDVLLPGEW DVCVTSYEML IKEKSVFKKF
310 320 330 340 350
NWRYLVIDEA HRIKNEKSKL SEIVREFKTT NRLLLTGTPL QNNLHELWSL
360 370 380 390 400
LNFLLPDVFN SADDFDSWFD TNNCLGDQKL VERLHMVLRP FLLRRIKADV
410 420 430 440 450
EKSLPPKKEV KIYVGLSKMQ REWYTRILMK DIDILNSAGK MDKMRLLNIL
460 470 480 490 500
MQLRKCCNHP YLFDGAEPGP PYTTDMHLVT NSGKMVVLDK LLPKLKEQGS
510 520 530 540 550
RVLIFSQMTR VLDILEDYCM WRNYEYCRLD GQTPHDERQD SINAYNEPNS
560 570 580 590 600
TKFVFMLSTR AGGLGINLAT ADVVILYDSD WNPQVDLQAM DRAHRIGQTK
610 620 630 640 650
TVRVFRFITD NTVEERIVER AEMKLRLDSI VIQQGRLVDQ NLNKIGKDEM
660 670 680 690 700
LQMIRHGATH VFASKESEIT DEDIDGILER GAKKTAEMNE KLSKMGESSL
710 720 730 740 750
RNFTMDTESS VYNFEGEDYR EKQKIAFTEW IEPPKRERKA NYAVDAYFRE
760 770 780 790 800
ALRVSEPKAP KAPRPPKQPN VQDFQFFPPR LFELLEKEIL FYRKTIGYKV
810 820 830 840 850
PRNPELPNAA QAQKEEQLKI DEAESLNDEE LEEKEKLLTQ GFTNWNKRDF
860 870 880 890 900
NQFIKANEKW GRDDIENIAR EVEGKTPEEV IEYSAVFWER CNELQDIEKI
910 920 930 940 950
MAQIERGEAR IQRRISIKKA LDTKIGRYKA PFHQLRISYG TNKGKNYTEE
960 970 980 990 1000
EDRFLICMLH KLGFDKENVY DELRQCIRNS PQFRFDWFLK SRTAMELQRR
1010 1020 1030 1040 1050
CNTLITLIER ENMELEEKEK AEKKKRGPKP STQKRKMDGA PDGRGRKKKL

KL
Length:1,052
Mass (Da):121,905
Last modified:August 1, 1998 - v1
Checksum:i6CC8CB25BAF7A876
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB010882 mRNA. Translation: BAA25173.1.
BC023144 mRNA. Translation: AAH23144.1.
CCDSiCCDS3761.1.
RefSeqiNP_003592.3. NM_003601.3.
UniGeneiHs.558422.

Genome annotation databases

EnsembliENST00000283131; ENSP00000283131; ENSG00000153147.
GeneIDi8467.
KEGGihsa:8467.
UCSCiuc003ijg.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB010882 mRNA. Translation: BAA25173.1.
BC023144 mRNA. Translation: AAH23144.1.
CCDSiCCDS3761.1.
RefSeqiNP_003592.3. NM_003601.3.
UniGeneiHs.558422.

3D structure databases

ProteinModelPortaliO60264.
SMRiO60264.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114045. 131 interactors.
DIPiDIP-33204N.
IntActiO60264. 52 interactors.
MINTiMINT-2981772.
STRINGi9606.ENSP00000283131.

PTM databases

iPTMnetiO60264.
PhosphoSitePlusiO60264.
SwissPalmiO60264.

Polymorphism and mutation databases

BioMutaiSMARCA5.

Proteomic databases

EPDiO60264.
MaxQBiO60264.
PaxDbiO60264.
PeptideAtlasiO60264.
PRIDEiO60264.

Protocols and materials databases

DNASUi8467.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283131; ENSP00000283131; ENSG00000153147.
GeneIDi8467.
KEGGihsa:8467.
UCSCiuc003ijg.4. human.

Organism-specific databases

CTDi8467.
DisGeNETi8467.
GeneCardsiSMARCA5.
HGNCiHGNC:11101. SMARCA5.
HPAiCAB005227.
HPA008751.
MalaCardsiSMARCA5.
MIMi603375. gene.
neXtProtiNX_O60264.
OpenTargetsiENSG00000153147.
Orphaneti370334. Extraskeletal Ewing sarcoma.
PharmGKBiPA35951.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0385. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00860000133761.
HOGENOMiHOG000192862.
HOVERGENiHBG056329.
InParanoidiO60264.
KOiK11654.
OMAiVCTRFEE.
OrthoDBiEOG091G01GJ.
PhylomeDBiO60264.
TreeFamiTF300674.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153147-MONOMER.
ReactomeiR-HSA-427413. NoRC negatively regulates rRNA expression.
R-HSA-5250924. B-WICH complex positively regulates rRNA expression.
R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
R-HSA-606279. Deposition of new CENPA-containing nucleosomes at the centromere.

Miscellaneous databases

ChiTaRSiSMARCA5. human.
GeneWikiiSMARCA5.
GenomeRNAii8467.
PROiO60264.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153147.
CleanExiHS_SMARCA5.
GenevisibleiO60264. HS.

Family and domain databases

Gene3Di1.10.10.60. 2 hits.
3.40.50.300. 2 hits.
InterProiIPR020838. DBINO.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR009057. Homeodomain-like.
IPR029915. ISWI.
IPR015194. ISWI_HAND-dom.
IPR027417. P-loop_NTPase.
IPR001005. SANT/Myb.
IPR017884. SANT_dom.
IPR015195. SLIDE.
IPR000330. SNF2_N.
[Graphical view]
PANTHERiPTHR10799:SF691. PTHR10799:SF691. 3 hits.
PfamiPF13892. DBINO. 1 hit.
PF09110. HAND. 1 hit.
PF00271. Helicase_C. 1 hit.
PF09111. SLIDE. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00717. SANT. 2 hits.
[Graphical view]
SUPFAMiSSF101224. SSF101224. 1 hit.
SSF46689. SSF46689. 2 hits.
SSF52540. SSF52540. 2 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51293. SANT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSMCA5_HUMAN
AccessioniPrimary (citable) accession number: O60264
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: August 1, 1998
Last modified: November 30, 2016
This is version 164 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.