Human Gene SMTN (ENST00000333137.12_7) from GENCODE V47lift37
  Description: smoothelin, transcript variant 2 (from RefSeq NM_134269.3)
Gencode Transcript: ENST00000333137.12_7
Gencode Gene: ENSG00000183963.19_17
Transcript (Including UTRs)
   Position: hg19 chr22:31,477,304-31,500,610 Size: 23,307 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr22:31,479,245-31,497,015 Size: 17,771 Coding Exon Count: 19 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:31,477,304-31,500,610)mRNA (may differ from genome)Protein (915 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMTN_HUMAN
DESCRIPTION: RecName: Full=Smoothelin;
FUNCTION: Structural protein of the cytoskeleton.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization.
TISSUE SPECIFICITY: Smooth muscle; contractile or vascular (for the long form).
SIMILARITY: Belongs to the smoothelin family.
SIMILARITY: Contains 1 CH (calponin-homology) domain.
SEQUENCE CAUTION: Sequence=AAL36149.1; Type=Frameshift; Positions=362, 384; Sequence=AAL36150.1; Type=Frameshift; Positions=362, 384; Sequence=CAA73884.2; Type=Frameshift; Positions=362, 384;

-  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: SMTN
Diseases sorted by gene-association score: glomuvenous malformations (13), atrophy of prostate (12), retroperitoneum carcinoma (9)

-  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: 366.02 RPKM in Colon - Sigmoid
Total median expression: 2948.71 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 -89.70219-0.410 Picture PostScript Text
3' UTR -111.90329-0.340 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
IPR001715 - CH-domain
IPR022189 - Smoothelin

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF11971 - CAMSAP CH domain
PF12510 - Smoothelin cytoskeleton protein

SCOP Domains:
47576 - Calponin-homology domain, CH-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2D87 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P53814
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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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0008307 structural constituent of muscle

Biological Process:
GO:0006939 smooth muscle contraction
GO:0007517 muscle organ development

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK128719 - Homo sapiens cDNA FLJ46886 fis, clone UTERU3016308, highly similar to Smoothelin.
AY061971 - Homo sapiens smoothelin-B2 (SMTN) mRNA, complete cds.
AY061972 - Homo sapiens smoothelin-B3 (SMTN) mRNA, complete cds.
Y13492 - Homo sapiens mRNA for smoothelin-B (SMTN gene).
AF064238 - Homo sapiens smoothelin large isoform L2 (SMTN) mRNA, complete cds.
AJ010306 - Homo sapiens mRNA for smoothelin L1, large isoform.
AK293681 - Homo sapiens cDNA FLJ59480 complete cds, highly similar to Smoothelin.
AK096953 - Homo sapiens cDNA FLJ39634 fis, clone SMINT2002689, highly similar to SMOOTHELIN.
JD453405 - Sequence 434429 from Patent EP1572962.
BC034237 - Homo sapiens smoothelin, mRNA (cDNA clone MGC:9460 IMAGE:3912887), complete cds.
AK300854 - Homo sapiens cDNA FLJ59994 complete cds, moderately similar to Smoothelin.
AK304084 - Homo sapiens cDNA FLJ56202 complete cds, highly similar to Smoothelin.
JD318558 - Sequence 299582 from Patent EP1572962.
JD269385 - Sequence 250409 from Patent EP1572962.
AK303424 - Homo sapiens cDNA FLJ55010 complete cds, moderately similar to Smoothelin.
CU689842 - Synthetic construct Homo sapiens gateway clone IMAGE:100017841 5' read SMTN mRNA.
DQ894358 - Synthetic construct Homo sapiens clone IMAGE:100008818; FLH169866.01L; RZPDo839H0195D smoothelin (SMTN) gene, encodes complete protein.
DQ891176 - Synthetic construct clone IMAGE:100003806; FLH169870.01X; RZPDo839H0196D smoothelin (SMTN) gene, encodes complete protein.
KJ904561 - Synthetic construct Homo sapiens clone ccsbBroadEn_13955 SMTN-like gene, encodes complete protein.
LF208974 - JP 2014500723-A/16477: Polycomb-Associated Non-Coding RNAs.
AK128627 - Homo sapiens cDNA FLJ46786 fis, clone TRACH3028837, highly similar to Homo sapiens smoothelin (SMTN), transcript variant 2, mRNA.
AK295418 - Homo sapiens cDNA FLJ56082 complete cds, highly similar to Homo sapiens smoothelin (SMTN), transcript variant 2, mRNA.
LF324570 - JP 2014500723-A/132073: Polycomb-Associated Non-Coding RNAs.
AB209643 - Homo sapiens mRNA for smoothelin isoform b variant protein.
LF324568 - JP 2014500723-A/132071: Polycomb-Associated Non-Coding RNAs.
LF324567 - JP 2014500723-A/132070: Polycomb-Associated Non-Coding RNAs.
AK307627 - Homo sapiens cDNA, FLJ97575.
AK301289 - Homo sapiens cDNA FLJ52779 complete cds, highly similar to Homo sapiens smoothelin (SMTN), transcript variant 2, mRNA.
AK225648 - Homo sapiens mRNA for smoothelin isoform a variant, clone: STM01030.
Z49989 - Homo sapiens mRNA for smoothelin-A (SMTN gene).
AK092684 - Homo sapiens cDNA FLJ35365 fis, clone SKMUS2000873, highly similar to Smoothelin large isoform L2.
AX747671 - Sequence 1196 from Patent EP1308459.
AK300064 - Homo sapiens cDNA FLJ52747 complete cds, highly similar to Smoothelin.
AK095930 - Homo sapiens cDNA FLJ38611 fis, clone HEART2005610, highly similar to Homo sapiens smoothelin (SMTN), transcript variant 2, mRNA.
AK309502 - Homo sapiens cDNA, FLJ99543.
AK095916 - Homo sapiens cDNA FLJ38597 fis, clone HEART2002598, highly similar to Homo sapiens smoothelin large isoform L2 (SMTN) mRNA.
AK092939 - Homo sapiens cDNA FLJ35620 fis, clone SPLEN2010846.
AX747817 - Sequence 1342 from Patent EP1308459.
AK092487 - Homo sapiens cDNA FLJ35168 fis, clone PLACE6012604.
JD283889 - Sequence 264913 from Patent EP1572962.
JD496745 - Sequence 477769 from Patent EP1572962.
JD250152 - Sequence 231176 from Patent EP1572962.
JD226837 - Sequence 207861 from Patent EP1572962.
MA560147 - JP 2018138019-A/132073: Polycomb-Associated Non-Coding RNAs.
MA560145 - JP 2018138019-A/132071: Polycomb-Associated Non-Coding RNAs.
MA560144 - JP 2018138019-A/132070: Polycomb-Associated Non-Coding RNAs.
MA444551 - JP 2018138019-A/16477: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000333137.1, ENST00000333137.10, ENST00000333137.11, ENST00000333137.2, ENST00000333137.3, ENST00000333137.4, ENST00000333137.5, ENST00000333137.6, ENST00000333137.7, ENST00000333137.8, ENST00000333137.9, NM_134269, O00569, O95769, O95937, P53814, Q8N4H8, Q8WWW1, Q8WWW2, Q9P1S8, Q9UIT1, Q9UIT2, SMSMO, SMTN_HUMAN, uc317tpn.1, uc317tpn.2
UCSC ID: ENST00000333137.12_7
RefSeq Accession: NM_134269.3
Protein: P53814 (aka SMTN_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.