Human Gene SMARCA5 (ENST00000283131.4_4) from GENCODE V47lift37
  Description: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (from RefSeq NM_003601.4)
Gencode Transcript: ENST00000283131.4_4
Gencode Gene: ENSG00000153147.6_7
Transcript (Including UTRs)
   Position: hg19 chr4:144,434,855-144,478,639 Size: 43,785 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg19 chr4:144,435,078-144,474,337 Size: 39,260 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:144,434,855-144,478,639)mRNA (may differ from genome)Protein (1052 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMCA5_HUMAN
DESCRIPTION: RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5; Short=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5; EC=3.6.4.-; AltName: Full=Sucrose nonfermenting protein 2 homolog; Short=hSNF2H;
FUNCTION: 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.
SUBUNIT: 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).
INTERACTION: Q9UIG0:BAZ1B; NbExp=6; IntAct=EBI-352588, EBI-927482; Q96T23:RSF1; NbExp=5; IntAct=EBI-352588, EBI-926768;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed.
DEVELOPMENTAL STAGE: Overexpressed in CD34-positive erythrocyte progenitor cells in acute myeloid leukemia. Down-regulation correlates with hematologic remission following chemotherapy.
SIMILARITY: Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SIMILARITY: Contains 2 SANT domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SMARCA5
Diseases sorted by gene-association score: extraskeletal ewing sarcoma* (253), williams-beuren syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.54 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 586.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -91.00223-0.408 Picture PostScript Text
3' UTR -1052.704302-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015194 - ATPase_nucl-remodel_HAND-dom
IPR020838 - DBINO
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR009057 - Homeodomain-like
IPR001005 - SANT/Myb
IPR017884 - SANT_dom
IPR015195 - SLIDE
IPR000330 - SNF2_N

Pfam Domains:
PF00176 - SNF2-related domain
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain
PF04851 - Type III restriction enzyme, res subunit
PF09110 - HAND
PF09111 - SLIDE

SCOP Domains:
101224 - HAND domain of the nucleosome remodeling ATPase ISWI
46689 - Homeodomain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on O60264
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0016887 ATPase activity
GO:0031491 nucleosome binding
GO:0042393 histone binding

Biological Process:
GO:0000183 chromatin silencing at rDNA
GO:0006325 chromatin organization
GO:0006333 chromatin assembly or disassembly
GO:0006334 nucleosome assembly
GO:0006338 chromatin remodeling
GO:0006352 DNA-templated transcription, initiation
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0016584 nucleosome positioning
GO:0034080 CENP-A containing nucleosome assembly
GO:0043044 ATP-dependent chromatin remodeling
GO:0045815 positive regulation of gene expression, epigenetic
GO:0045893 positive regulation of transcription, DNA-templated
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0000793 condensed chromosome
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005677 chromatin silencing complex
GO:0016589 NURF complex
GO:0031010 ISWI-type complex
GO:0031213 RSF complex
GO:0043596 nuclear replication fork


-  Descriptions from all associated GenBank mRNAs
  AK316444 - Homo sapiens cDNA, FLJ79343 complete cds, highly similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (EC 3.6.1.-).
AK302841 - Homo sapiens cDNA FLJ51771 complete cds, highly similar to SWI/SNF-related matrix-associatedactin-dependent regulator of chromatin subfamily A member5 (EC 3.6.1.-).
LF208163 - JP 2014500723-A/15666: Polycomb-Associated Non-Coding RNAs.
BC023144 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5, mRNA (cDNA clone MGC:17104 IMAGE:4340921), complete cds.
AB010882 - Homo sapiens mRNA for hSNF2H, complete cds.
AK308424 - Homo sapiens cDNA, FLJ98372.
LF206712 - JP 2014500723-A/14215: Polycomb-Associated Non-Coding RNAs.
AB384709 - Synthetic construct DNA, clone: pF1KB1630, Homo sapiens SMARCA5 gene for SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5, complete cds, without stop codon, in Flexi system.
JF432501 - Synthetic construct Homo sapiens clone IMAGE:100073722 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5) gene, encodes complete protein.
KJ905351 - Synthetic construct Homo sapiens clone ccsbBroadEn_14896 SMARCA5 gene, encodes complete protein.
LF357296 - JP 2014500723-A/164799: Polycomb-Associated Non-Coding RNAs.
JD027345 - Sequence 8369 from Patent EP1572962.
MA443740 - JP 2018138019-A/15666: Polycomb-Associated Non-Coding RNAs.
MA442289 - JP 2018138019-A/14215: Polycomb-Associated Non-Coding RNAs.
MA592873 - JP 2018138019-A/164799: Polycomb-Associated Non-Coding RNAs.
JD406928 - Sequence 387952 from Patent EP1572962.
LF373149 - JP 2014500723-A/180652: Polycomb-Associated Non-Coding RNAs.
LF357295 - JP 2014500723-A/164798: Polycomb-Associated Non-Coding RNAs.
LF373148 - JP 2014500723-A/180651: Polycomb-Associated Non-Coding RNAs.
JD152474 - Sequence 133498 from Patent EP1572962.
LF373147 - JP 2014500723-A/180650: Polycomb-Associated Non-Coding RNAs.
LF373144 - JP 2014500723-A/180647: Polycomb-Associated Non-Coding RNAs.
MA608726 - JP 2018138019-A/180652: Polycomb-Associated Non-Coding RNAs.
MA608725 - JP 2018138019-A/180651: Polycomb-Associated Non-Coding RNAs.
MA608724 - JP 2018138019-A/180650: Polycomb-Associated Non-Coding RNAs.
MA608721 - JP 2018138019-A/180647: Polycomb-Associated Non-Coding RNAs.
MA592872 - JP 2018138019-A/164798: Polycomb-Associated Non-Coding RNAs.
LF373143 - JP 2014500723-A/180646: Polycomb-Associated Non-Coding RNAs.
JD034452 - Sequence 15476 from Patent EP1572962.
LF357297 - JP 2014500723-A/164800: Polycomb-Associated Non-Coding RNAs.
LF373142 - JP 2014500723-A/180645: Polycomb-Associated Non-Coding RNAs.
LF357298 - JP 2014500723-A/164801: Polycomb-Associated Non-Coding RNAs.
LF373140 - JP 2014500723-A/180643: Polycomb-Associated Non-Coding RNAs.
LF357299 - JP 2014500723-A/164802: Polycomb-Associated Non-Coding RNAs.
LF373139 - JP 2014500723-A/180642: Polycomb-Associated Non-Coding RNAs.
LF357300 - JP 2014500723-A/164803: Polycomb-Associated Non-Coding RNAs.
LF373137 - JP 2014500723-A/180640: Polycomb-Associated Non-Coding RNAs.
LF373136 - JP 2014500723-A/180639: Polycomb-Associated Non-Coding RNAs.
LF357301 - JP 2014500723-A/164804: Polycomb-Associated Non-Coding RNAs.
LF373135 - JP 2014500723-A/180638: Polycomb-Associated Non-Coding RNAs.
LF373133 - JP 2014500723-A/180636: Polycomb-Associated Non-Coding RNAs.
LF357302 - JP 2014500723-A/164805: Polycomb-Associated Non-Coding RNAs.
LF357303 - JP 2014500723-A/164806: Polycomb-Associated Non-Coding RNAs.
LF373132 - JP 2014500723-A/180635: Polycomb-Associated Non-Coding RNAs.
LF357304 - JP 2014500723-A/164807: Polycomb-Associated Non-Coding RNAs.
LF373131 - JP 2014500723-A/180634: Polycomb-Associated Non-Coding RNAs.
LF373130 - JP 2014500723-A/180633: Polycomb-Associated Non-Coding RNAs.
LF357305 - JP 2014500723-A/164808: Polycomb-Associated Non-Coding RNAs.
LF373128 - JP 2014500723-A/180631: Polycomb-Associated Non-Coding RNAs.
LF357306 - JP 2014500723-A/164809: Polycomb-Associated Non-Coding RNAs.
LF373127 - JP 2014500723-A/180630: Polycomb-Associated Non-Coding RNAs.
LF373126 - JP 2014500723-A/180629: Polycomb-Associated Non-Coding RNAs.
LF357307 - JP 2014500723-A/164810: Polycomb-Associated Non-Coding RNAs.
LF373124 - JP 2014500723-A/180627: Polycomb-Associated Non-Coding RNAs.
LF357308 - JP 2014500723-A/164811: Polycomb-Associated Non-Coding RNAs.
LF373123 - JP 2014500723-A/180626: Polycomb-Associated Non-Coding RNAs.
LF373122 - JP 2014500723-A/180625: Polycomb-Associated Non-Coding RNAs.
LF357309 - JP 2014500723-A/164812: Polycomb-Associated Non-Coding RNAs.
LF373121 - JP 2014500723-A/180624: Polycomb-Associated Non-Coding RNAs.
LF357310 - JP 2014500723-A/164813: Polycomb-Associated Non-Coding RNAs.
LF373120 - JP 2014500723-A/180623: Polycomb-Associated Non-Coding RNAs.
AF086544 - Homo sapiens full length insert cDNA clone ZE11B02.
LF357311 - JP 2014500723-A/164814: Polycomb-Associated Non-Coding RNAs.
LF373119 - JP 2014500723-A/180622: Polycomb-Associated Non-Coding RNAs.
JD562583 - Sequence 543607 from Patent EP1572962.
AL157495 - Homo sapiens mRNA; cDNA DKFZp434C2112 (from clone DKFZp434C2112).
LF373118 - JP 2014500723-A/180621: Polycomb-Associated Non-Coding RNAs.
LF373117 - JP 2014500723-A/180620: Polycomb-Associated Non-Coding RNAs.
LF373116 - JP 2014500723-A/180619: Polycomb-Associated Non-Coding RNAs.
AK123439 - Homo sapiens cDNA FLJ41445 fis, clone BRSTN2002105.
MA608720 - JP 2018138019-A/180646: Polycomb-Associated Non-Coding RNAs.
MA608719 - JP 2018138019-A/180645: Polycomb-Associated Non-Coding RNAs.
MA608717 - JP 2018138019-A/180643: Polycomb-Associated Non-Coding RNAs.
MA608716 - JP 2018138019-A/180642: Polycomb-Associated Non-Coding RNAs.
MA608714 - JP 2018138019-A/180640: Polycomb-Associated Non-Coding RNAs.
MA608713 - JP 2018138019-A/180639: Polycomb-Associated Non-Coding RNAs.
MA608712 - JP 2018138019-A/180638: Polycomb-Associated Non-Coding RNAs.
MA608710 - JP 2018138019-A/180636: Polycomb-Associated Non-Coding RNAs.
MA608709 - JP 2018138019-A/180635: Polycomb-Associated Non-Coding RNAs.
MA608708 - JP 2018138019-A/180634: Polycomb-Associated Non-Coding RNAs.
MA608707 - JP 2018138019-A/180633: Polycomb-Associated Non-Coding RNAs.
MA608705 - JP 2018138019-A/180631: Polycomb-Associated Non-Coding RNAs.
MA608704 - JP 2018138019-A/180630: Polycomb-Associated Non-Coding RNAs.
MA608703 - JP 2018138019-A/180629: Polycomb-Associated Non-Coding RNAs.
MA608701 - JP 2018138019-A/180627: Polycomb-Associated Non-Coding RNAs.
MA608700 - JP 2018138019-A/180626: Polycomb-Associated Non-Coding RNAs.
MA608699 - JP 2018138019-A/180625: Polycomb-Associated Non-Coding RNAs.
MA608698 - JP 2018138019-A/180624: Polycomb-Associated Non-Coding RNAs.
MA608697 - JP 2018138019-A/180623: Polycomb-Associated Non-Coding RNAs.
MA608696 - JP 2018138019-A/180622: Polycomb-Associated Non-Coding RNAs.
MA608695 - JP 2018138019-A/180621: Polycomb-Associated Non-Coding RNAs.
MA608694 - JP 2018138019-A/180620: Polycomb-Associated Non-Coding RNAs.
MA608693 - JP 2018138019-A/180619: Polycomb-Associated Non-Coding RNAs.
MA592874 - JP 2018138019-A/164800: Polycomb-Associated Non-Coding RNAs.
MA592875 - JP 2018138019-A/164801: Polycomb-Associated Non-Coding RNAs.
MA592876 - JP 2018138019-A/164802: Polycomb-Associated Non-Coding RNAs.
MA592877 - JP 2018138019-A/164803: Polycomb-Associated Non-Coding RNAs.
MA592878 - JP 2018138019-A/164804: Polycomb-Associated Non-Coding RNAs.
MA592879 - JP 2018138019-A/164805: Polycomb-Associated Non-Coding RNAs.
MA592880 - JP 2018138019-A/164806: Polycomb-Associated Non-Coding RNAs.
MA592881 - JP 2018138019-A/164807: Polycomb-Associated Non-Coding RNAs.
MA592882 - JP 2018138019-A/164808: Polycomb-Associated Non-Coding RNAs.
MA592883 - JP 2018138019-A/164809: Polycomb-Associated Non-Coding RNAs.
MA592884 - JP 2018138019-A/164810: Polycomb-Associated Non-Coding RNAs.
MA592885 - JP 2018138019-A/164811: Polycomb-Associated Non-Coding RNAs.
MA592886 - JP 2018138019-A/164812: Polycomb-Associated Non-Coding RNAs.
MA592887 - JP 2018138019-A/164813: Polycomb-Associated Non-Coding RNAs.
MA592888 - JP 2018138019-A/164814: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O60264 (Reactome details) participates in the following event(s):

R-HSA-5250947 B-WICH complex binds rDNA promoter
R-HSA-427409 Nucleolar Remodelling Complex (NoRC) binds intergenic region of rDNA
R-HSA-5250930 B-WICH recruits histone acetyltransferases
R-HSA-5683930 WICH phosphorylates H2AFX on Y142
R-HSA-5227490 NoRC:HDAC:DNMT methylates cytosine of the rRNA genes
R-HSA-5250938 B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-5250941 Negative epigenetic regulation of rRNA expression
R-HSA-774815 Nucleosome assembly
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-73886 Chromosome Maintenance
R-HSA-5693606 DNA Double Strand Break Response
R-HSA-74160 Gene expression (Transcription)
R-HSA-1640170 Cell Cycle
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000283131.1, ENST00000283131.2, ENST00000283131.3, NM_003601, O60264, SMCA5_HUMAN, SNF2H, uc317kbo.1, uc317kbo.2, WCRF135
UCSC ID: ENST00000283131.4_4
RefSeq Accession: NM_003601.4
Protein: O60264 (aka SMCA5_HUMAN or SMR5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.