Human Gene SMARCA1 (ENST00000371123.5) from GENCODE V44
  Description: Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 8, mRNA. (from RefSeq NM_001378264)
RefSeq Summary (NM_001282875): 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 DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].
Gencode Transcript: ENST00000371123.5
Gencode Gene: ENSG00000102038.16
Transcript (Including UTRs)
   Position: hg38 chrX:129,446,506-129,523,485 Size: 76,980 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg38 chrX:129,447,162-129,523,370 Size: 76,209 Coding Exon Count: 24 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:129,446,506-129,523,485)mRNA (may differ from genome)Protein (1058 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  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: SMARCA1
Diseases sorted by gene-association score: alpha thalassemia-x-linked intellectual disability syndrome (8), charge syndrome (4), thalassemias, alpha- (4)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.81 RPKM in Adrenal Gland
Total median expression: 766.76 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 -23.20115-0.202 Picture PostScript Text
3' UTR -134.10656-0.204 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.

-  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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsembl SGD
Protein SequenceProtein SequenceProtein SequenceProtein Sequence Protein Sequence
AlignmentAlignmentAlignmentAlignment Alignment

-  Descriptions from all associated GenBank mRNAs
  EU636009 - Homo sapiens SNF2LT mRNA, complete cds.
M88163 - Human global transcription activator homologous sequence mRNA, complete cds.
BC117447 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1, mRNA (cDNA clone MGC:151056 IMAGE:40125998), complete cds.
BC143954 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1, mRNA (cDNA clone MGC:177489 IMAGE:9052472), complete cds.
BC143955 - Homo sapiens cDNA clone IMAGE:9052473, containing frame-shift errors.
BC051825 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1, mRNA (cDNA clone IMAGE:6502029), partial cds.
AK026426 - Homo sapiens cDNA: FLJ22773 fis, clone KAIA1473, highly similar to HUMSNF2L Human global transcription activator homologous sequence mRNA.
M89907 - Human global transcription activator homologous sequence mRNA, 5' end.
BX647934 - Homo sapiens mRNA; cDNA DKFZp686D1623 (from clone DKFZp686D1623).
JD291867 - Sequence 272891 from Patent EP1572962.
JD101537 - Sequence 82561 from Patent EP1572962.
JD330471 - Sequence 311495 from Patent EP1572962.
AK123541 - Homo sapiens cDNA FLJ41547 fis, clone CHONS2000172.
JD273842 - Sequence 254866 from Patent EP1572962.
JD563784 - Sequence 544808 from Patent EP1572962.
JD122653 - Sequence 103677 from Patent EP1572962.
JD444309 - Sequence 425333 from Patent EP1572962.
JD337215 - Sequence 318239 from Patent EP1572962.
JD142120 - Sequence 123144 from Patent EP1572962.
JD388084 - Sequence 369108 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MRP6, ENST00000371123.1, ENST00000371123.2, ENST00000371123.3, ENST00000371123.4, NM_001378264, uc011mul.1, uc011mul.2, uc011mul.3
UCSC ID: ENST00000371123.5
RefSeq Accession: NM_001282875
CCDS: CCDS14612.1, CCDS76018.1, CCDS76019.1

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