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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: -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
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, Helicase, Hydrolase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000153147.5
HGNCiHGNC:11101 SMARCA5
MIMi603375 gene
neXtProtiNX_O60264

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Chemistry databases

DrugBankiDB02670 4-Deoxy-Alpha-D-Glucose
DB02379 Beta-D-Glucose

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
Cross-linki83Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei113PhosphothreonineCombined sources1
Modified residuei116PhosphoserineCombined sources1
Modified residuei137PhosphoserineCombined sources1
Modified residuei171PhosphoserineCombined sources1
Modified residuei440N6-acetyllysineCombined sources1
Cross-linki644Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki647Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki694Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki722Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki735Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei755PhosphoserineCombined sources1
Modified residuei825PhosphoserineCombined sources1
Cross-linki966Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO60264
MaxQBiO60264
PaxDbiO60264
PeptideAtlasiO60264
PRIDEiO60264
ProteomicsDBi49297

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 Expressed in 244 organ(s), highest expression level in female gonad
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

Protein-protein interaction databases

BioGridi114045, 139 interactors
ComplexPortaliCPX-1099 B-WICH chromatin remodelling complex
CPX-432 NoRC complex
CPX-434 ACF complex
CPX-455 RSF complex
CPX-757 WICH chromatin remodelling complex
CPX-785 CHRAC chromatin remodeling complex
CORUMiO60264
DIPiDIP-33204N
IntActiO60264, 62 interactors
MINTiO60264
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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0385 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00900000140963
HOGENOMiHOG000192862
HOVERGENiHBG056329
InParanoidiO60264
KOiK11654
OMAiMAFTEWI
OrthoDBiEOG091G01GJ
PhylomeDBiO60264
TreeFamiTF300674

Family and domain databases

CDDicd00079 HELICc, 1 hit
cd00167 SANT, 2 hits
Gene3Di1.10.1040.30, 1 hit
3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR020838 DBINO
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR009057 Homeobox-like_sf
IPR029915 ISWI
IPR015194 ISWI_HAND-dom
IPR036306 ISWI_HAND-dom_sf
IPR027417 P-loop_NTPase
IPR001005 SANT/Myb
IPR017884 SANT_dom
IPR015195 SLIDE
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PANTHERiPTHR10799:SF887 PTHR10799:SF887, 1 hit
PfamiView protein in Pfam
PF13892 DBINO, 1 hit
PF09110 HAND, 1 hit
PF00271 Helicase_C, 1 hit
PF09111 SLIDE, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SM00717 SANT, 2 hits
SUPFAMiSSF101224 SSF101224, 1 hit
SSF46689 SSF46689, 2 hits
SSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS51293 SANT, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiSMCA5_HUMAN
AccessioniPrimary (citable) accession number: O60264
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: August 1, 1998
Last modified: September 12, 2018
This is version 183 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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