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Aliases for SMTN Gene

Aliases for SMTN Gene

  • Smoothelin 2 3
  • SMSMO 4

External Ids for SMTN Gene

Previous GeneCards Identifiers for SMTN Gene

  • GC22P028173
  • GC22P029801
  • GC22P031460
  • GC22P014439

Summaries for SMTN Gene

Entrez Gene Summary for SMTN Gene

  • This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]

GeneCards Summary for SMTN Gene

SMTN (Smoothelin) is a Protein Coding gene. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is SMTNL2.

UniProtKB/Swiss-Prot for SMTN Gene

  • Structural protein of the cytoskeleton

Gene Wiki entry for SMTN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMTN Gene

Genomics for SMTN Gene

Regulatory Elements for SMTN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMTN Gene

Start:
31,064,105 bp from pter
End:
31,104,757 bp from pter
Size:
40,653 bases
Orientation:
Plus strand

Genomic View for SMTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMTN Gene

Proteins for SMTN Gene

  • Protein details for SMTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53814-SMTN_HUMAN
    Recommended name:
    Smoothelin
    Protein Accession:
    P53814
    Secondary Accessions:
    • O00569
    • O95769
    • O95937
    • Q8N4H8
    • Q8WWW1
    • Q8WWW2
    • Q9P1S8
    • Q9UIT1
    • Q9UIT2

    Protein attributes for SMTN Gene

    Size:
    917 amino acids
    Molecular mass:
    99059 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL36149.1; Type=Frameshift; Positions=362, 384; Evidence={ECO:0000305}; Sequence=AAL36150.1; Type=Frameshift; Positions=362, 384; Evidence={ECO:0000305}; Sequence=CAA73884.2; Type=Frameshift; Positions=362, 384; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMTN Gene

    Alternative splice isoforms for SMTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMTN Gene

Proteomics data for SMTN Gene at MOPED

Post-translational modifications for SMTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SMTN Gene

Domains for SMTN Gene

Protein Domains for SMTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53814

UniProtKB/Swiss-Prot:

SMTN_HUMAN :
  • P53814
Domain:
  • Contains 1 CH (calponin-homology) domain.
Family:
  • Belongs to the smoothelin family.
genes like me logo Genes that share domains with SMTN: view

No data available for Gene Families for SMTN Gene

Function for SMTN Gene

Molecular function for SMTN Gene

GENATLAS Biochemistry:
smoothelin,protein,59kDa,expressed in contractile smooth muscle cells (short isoform) and in all vascularized organs (long isoform)
UniProtKB/Swiss-Prot Function:
Structural protein of the cytoskeleton

Gene Ontology (GO) - Molecular Function for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 8707825
GO:0005515 protein binding --
GO:0008307 structural constituent of muscle TAS 8707825
genes like me logo Genes that share ontologies with SMTN: view
genes like me logo Genes that share phenotypes with SMTN: view

Animal Models for SMTN Gene

MGI Knock Outs for SMTN:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SMTN Gene

Localization for SMTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMTN Gene

Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMTN Gene COMPARTMENTS Subcellular localization image for SMTN gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 3
extracellular 2

Gene Ontology (GO) - Cellular Components for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton TAS 8707825
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with SMTN: view

Pathways for SMTN Gene

SuperPathways for SMTN Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006939 smooth muscle contraction TAS 8707825
GO:0007517 muscle organ development TAS 8707825
genes like me logo Genes that share ontologies with SMTN: view

No data available for Pathways by source for SMTN Gene

Compounds for SMTN Gene

(1) Novoseek inferred chemical compound relationships for SMTN Gene

Compound -log(P) Hits PubMed IDs
dihydrotestosterone 47.5 1
genes like me logo Genes that share compounds with SMTN: view

Transcripts for SMTN Gene

Unigene Clusters for SMTN Gene

Smoothelin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMTN

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMTN Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c ·
SP1: - - - - -
SP2:
SP3: - - - -
SP4:
SP5: - - - -
SP6: - - -
SP7: - -
SP8: - - - -
SP9:
SP10: - - - -
SP11: -
SP12: - - - -
SP13:
SP14:
SP15: - - - -
SP16: - - - - -
SP17:

ExUns: 18d ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7:
SP8: - -
SP9: -
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for SMTN Gene

GeneLoc Exon Structure for
SMTN
ECgene alternative splicing isoforms for
SMTN

Expression for SMTN Gene

mRNA expression in normal human tissues for SMTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMTN Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (6.2), Colon - Sigmoid (6.0), Esophagus - Muscularis (5.9), and Artery - Tibial (4.4).

Protein differential expression in normal tissues for SMTN Gene

This gene is overexpressed in Colon muscle (15.8), Urinary Bladder (14.1), Colon (11.6), and Rectum (11.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SMTN Gene

SOURCE GeneReport for Unigene cluster for SMTN Gene Hs.149098

mRNA Expression by UniProt/SwissProt for SMTN Gene

P53814-SMTN_HUMAN
Tissue specificity: Smooth muscle; contractile or vascular (for the long form)
genes like me logo Genes that share expressions with SMTN: view

Expression partners for SMTN Gene

In Situ Assay Products

Orthologs for SMTN Gene

This gene was present in the common ancestor of animals.

Orthologs for SMTN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMTN 35
  • 85.28 (n)
  • 85.09 (a)
SMTN 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMTN 35
  • 89.18 (n)
  • 88.42 (a)
SMTN 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smtn 35
  • 82.79 (n)
  • 82.06 (a)
Smtn 16
Smtn 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMTN 35
  • 98.66 (n)
  • 97.27 (a)
SMTN 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smtn 35
  • 81.91 (n)
  • 80.73 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia SMTN 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMTN 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMTN 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smtn 35
  • 64.75 (n)
  • 65.39 (a)
Str.1497 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68765 35
zebrafish
(Danio rerio)
Actinopterygii smtnb 36
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 37
  • 48 (a)
T15B12.1 36
  • 27 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9420 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 36
  • 54 (a)
ManyToMany
Species with no ortholog for SMTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMTN Gene

ENSEMBL:
Gene Tree for SMTN (if available)
TreeFam:
Gene Tree for SMTN (if available)

Paralogs for SMTN Gene

Selected SIMAP similar genes for SMTN Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with SMTN: view

Variants for SMTN Gene

Sequence variations from dbSNP and Humsavar for SMTN Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs917208 -- 31,097,139(-) AGACA(C/T)GGAGA intron-variant, downstream-variant-500B, nc-transcript-variant
rs1004243 -- 31,101,893(+) TTCCT(C/T)GGATG intron-variant
rs1008519 -- 31,095,677(-) GGACC(C/T)CAGAG intron-variant
rs2074736 -- 31,096,496(-) ACGGA(A/G)TAGCT intron-variant, utr-variant-3-prime
rs2074738 -- 31,090,305(-) AGTAT(C/G)AGGGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SMTN Gene

Variant ID Type Subtype PubMed ID
nsv9896 CNV Gain 18304495
nsv524366 CNV Loss 19592680
nsv829173 CNV Loss 20364138
dgv4956n71 CNV Loss 21882294
nsv914976 CNV Loss 21882294
esv29436 CNV Loss 19812545

Relevant External Links for SMTN Gene

HapMap Linkage Disequilibrium report
SMTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMTN Gene

Disorders for SMTN Gene

(1) University of Copenhagen DISEASES for SMTN Gene

Relevant External Links for SMTN

Genetic Association Database (GAD)
SMTN
genes like me logo Genes that share disorders with SMTN: view

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for SMTN Gene

Publications for SMTN Gene

  1. Smoothelin, a novel cytoskeletal protein specific for smooth muscle cells. (PMID: 8707825) van der Loop F.T.L. … van Eys G.J.J.M. (J. Cell Biol. 1996) 2 3 4 23
  2. Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. (PMID: 9244445) Engelen J.J. … van Eys G.J. (Genomics 1997) 2 3 23
  3. Identification and characterization of novel smoothelin isoforms in vascular smooth muscle. (PMID: 11316948) Kraemer J. … Leonhardt H. (J. Vasc. Res. 2001) 3 4 23
  4. Expression of the smoothelin gene is mediated by alternative promoters. (PMID: 12176134) Rensen S.S. … Van Eys G.J.J.M. (Cardiovasc. Res. 2002) 3 4 23
  5. A novel isoform of the smooth muscle cell differentiation marker smoothelin. (PMID: 10023782) Kraemer J. … Leonhardt H. (J. Mol. Med. 1999) 3 4

Products for SMTN Gene

Sources for SMTN Gene

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