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SMTNL1 Gene

protein-coding   GIFtS: 40
GCID: GC11P057309

Smoothelin-Like 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Smoothelin-Like 11 2
Calponin Homology-Associated Smooth Muscle Protein1 2
CHASM2 5
Smoothelin-Like Protein 12

External Ids:    HGNC: 323941   Entrez Gene: 2195372   Ensembl: ENSG000002148727   OMIM: 6136645   UniProtKB: A8MU463   

Export aliases for SMTNL1 gene to outside databases

Previous GC identifers: GC11P057066 GC11P053658


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SMTNL1 Gene:
SMTNL1, which is a member of the smoothelin (SMTN; MIM 602127) family, regulates contraction and relaxation of
skeletal and smooth muscle fibers and mediates vascular adaptation to exercise (Wooldridge et al., 2008 (PubMed
18310078)).(supplied by OMIM, Dec 2010)

GeneCards Summary for SMTNL1 Gene:
SMTNL1 (smoothelin-like 1) is a protein-coding gene. Diseases associated with SMTNL1 include malaria. GO annotations related to this gene include calmodulin binding. An important paralog of this gene is MICALL2.

UniProtKB/Swiss-Prot: SMTL1_HUMAN, A8MU46
Function: Plays a role in the regulation of contractile properties of both striated and smooth muscles. When
unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory
activity (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMTNL1 gene promoter:
         SRF   SRF (504 AA)   Pax-6   Lmo2   Tal-1beta   Evi-1   RORalpha2   HEN1   ITF-2   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SMTNL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMTNL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12.1   Ensembl cytogenetic band:  11q12.1   HGNC cytogenetic band: 11q12.1

SMTNL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMTNL1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P057309:  view genomic region     (about GC identifiers)

Start:
57,308,979 bp from pter      End:
57,318,108 bp from pter
Size:
9,130 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SMTL1_HUMAN, A8MU46 (See protein sequence)
Recommended Name: Smoothelin-like protein 1  
Size: 457 amino acids; 48953 Da
Subunit: Interacts with PPP1R12A (By similarity)

Explore the universe of human proteins at neXtProt for SMTNL1: NX_A8MU46

Explore proteomics data for SMTNL1 at MOPED

Post-translational modifications: 

  • Maximal phosphorylation of Ser-299 correlates with maximal relaxation of aorta in response to acetylcholine (By
    similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SMTNL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001099035.2  
    ENSEMBL proteins: 
     ENSP00000432651   ENSP00000406485   ENSP00000382108  

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    Browse Proteins at Cloud-Clone Corp.

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    SMTNL1 Assay Products:

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    GenScript Custom Assay Services for SMTNL1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001715 CH-domain

    Graphical View of Domain Structure for InterPro Entry A8MU46

    ProtoNet protein and cluster: A8MU46

    UniProtKB/Swiss-Prot: SMTL1_HUMAN, A8MU46
    Similarity: Belongs to the smoothelin family
    Similarity: Contains 1 CH (calponin-homology) domain


    SMTNL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMTL1_HUMAN, A8MU46
    Function: Plays a role in the regulation of contractile properties of both striated and smooth muscles. When
    unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory
    activity (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0008157protein phosphatase 1 binding ----
         
    SMTNL1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Smtnl1):
     cardiovascular system  homeostasis/metabolism  muscle 

    SMTNL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Smtnl1tm1Tajh for SMTNL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMTNL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMTNL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMTNL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SMTNL1:
    hsa-mir-335-5p (MIRT017812)

    Block miRNA regulation of human, mouse, rat SMTNL1 using miScript Target Protectors
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    Predesigned siRNA for gene silencing in human, mouse, rat SMTNL1

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMTNL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMTL1_HUMAN, A8MU46: Cytoplasm, myofibril. Cytoplasm, myofibril, sarcomere, I band (By similarity). Cytoplasm,
    myofibril, sarcomere, M line (By similarity). Nucleus (By similarity). Note=Colocalizes with MYH2. In its
    unphosphorylated state, localizes to the cytoplasm (By similarity). Phosphorylation at Ser-301 promotes
    translocation to the nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0031430M band IEA--
    GO:0031674I band IEA--
    GO:0043292contractile fiber IDA--

    SMTNL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMTNL1
    Interactions:

        Search GeneGlobe Interaction Network for SMTNL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SMTNL1 (ENSP000004064854) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPZA1ENSP000002631684STRING: ENSP00000263168
    CAPZA2ENSP000003549474STRING: ENSP00000354947
    MYO1FENSP000003448714STRING: ENSP00000344871
    IQGAP1ENSP000002681824STRING: ENSP00000268182
    --ENSP000004079504STRING: ENSP00000407950
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014823response to activity ----
    GO:0018105peptidyl-serine phosphorylation ----
    GO:0042493response to drug ----
    GO:0045907positive regulation of vasoconstriction ISS--
    GO:0045908negative regulation of vasodilation ISS--

    SMTNL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMTNL1 (SMTL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SMTNL1 gene: 
    NM_001105565.2  

    Unigene Cluster for SMTNL1:

    Smoothelin-like 1
    Hs.68756  [show with all ESTs]
    Unigene Representative Sequence: NM_001105565
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527972(uc021qjh.1) ENST00000457912 ENST00000399154
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SMTNL1
      QuantiFast Probe-based Assays in human, mouse, rat SMTNL1

    3 DOTS entries:

    DT.310559  DT.406892  DT.406893 

    20 AceView cDNA sequences:

    F36724 F27447 F00415 AI377336 AJ572632 AI141522 AI359511 BX116227 
    AI862569 AI343749 F22607 F29726 AA192224 AI823942 AA977581 AI131408 
    AA086413 F25584 AA111832 AA192790 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMTNL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGCACCAG
    SMTNL1 Expression
    About this image

    SMTNL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMTNL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.68756

    UniProtKB/Swiss-Prot: SMTL1_HUMAN, A8MU46
    Tissue specificity: Expressed in striated muscles, specifically in type 2a fibers (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMTNL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMTNL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smtnl11 , 5 smoothelin-like 11, 5 77.19(n)1
    70.61(a)1
      2 (49.45 cM)5
    686781  NM_024230.21  NP_077192.11 
     848111765 
    chicken
    (Gallus gallus)
    Aves SMTNL16
    smoothelin-like 1
    73(a)
    1 ↔ 1
    5(16308344-16309236) ENSGALG00000028884
    lizard
    (Anolis carolinensis)
    Reptilia SMTNL16
    smoothelin-like 1
    43(a)
    1 ↔ 1
    1(91725073-91742481)
    zebrafish
    (Danio rerio)
    Actinopterygii smtna6
    smtnl16
    smoothelin-like 1
    31(a)
    24(a)
    1 ↔ many
    1 ↔ many
    10(6903576-6920692) ENSDARG00000074652
    14(14940368-14954074) ENSDARG00000041257
    worm
    (Caenorhabditis elegans)
    Secernentea T15B12.16
    Protein T15B12.1, isoform b
    20(a)
    1 → many
    III(5288180-5298352) WBGene00020530


    ENSEMBL Gene Tree for SMTNL1 (if available)
    TreeFam Gene Tree for SMTNL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMTNL1 gene
    MICALL22  MICAL22  EHBP12  MICAL32  SPECC12  SMTNL22  MICALL12  MICALCL2  
    MICAL12  SPECC1L-ADORA2A2  SMTN2  EHBP1L12  SPECC1L2  
    3 SIMAP similar genes for SMTNL1 using alignment to 3 protein entries:     SMTL1_HUMAN (see all proteins):
    DMD    ACTN1    SMTN

    SMTNL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMTNL1 (see all 235)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs734786351,2
    C,F--57308143(+) CTCCCG/AGCATC 1 -- us2k12Minor allele frequency- A:0.02WA 120
    rs3701799401,2
    C--57308188(+) TCCCT-/TTTTT 
            
    TTTTT
    1 -- us2k10--------
    rs124193001,2
    H--57308240(+) gtgcaG/Ttgacg 1 -- us2k10--------
    rs1907814511,2
    --57308252(+) GATCTC/TGGCTC 1 -- us2k10--------
    rs1474795691,2
    --57308329(+) CAGGCA/GTCTGC 1 -- us2k10--------
    rs1131445601,2
    C,F--57308429(+) TGCCCG/ACTACG 1 -- us2k12Minor allele frequency- A:0.07CSA WA 120
    rs116081701,2
    C,F,H--57308433(+) cgctaC/Tgggct 1 -- us2k12Minor allele frequency- T:0.10NA 122
    rs1401143731,2
    --57308470(+) ATCCAA/CCATGC 1 -- us2k10--------
    rs1168760811,2
    --57308480(+) CCCGGC/TGTCAT 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1829351181,2
    --57308481(+) CCGGCA/GTCATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMTNL1 (57308979 - 57318108 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SMTNL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832163CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMTNL1
    DNA2.0 Custom Variant and Variant Library Synthesis for SMTNL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613664    OMIM disorders: --

    1 disease for SMTNL1:    About MalaCards
    malaria


    SMTNL1 for disorders           About GeneDecksing


    Export disorders for SMTNL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SMTNL1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SMTNL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Smoothelin-like 1 protein regulates myosin phosphatase-targeting subunit 1 expression during sexual development and pregnancy. (PubMed id 20634291)1, 2 Lontay B.... Haystead T.A. (J. Biol. Chem. 2010)
    2. Deletion of the protein kinase A/protein kinase G target SMTNL1 promotes an exercise-adapted phenotype in vascular smooth muscle. (PubMed id 18310078)1, 2 Wooldridge A.A.... Haystead T.A. (J. Biol. Chem. 2008)
    3. Modulation of smooth muscle contractility by CHASM, a novel member of the smoothelin family of proteins. (PubMed id 15327999)1, 3 Borman M.A....Haystead T.A. (FEBS Lett. 2004)
    4. Mapping and functional characterization of the murine smoothelin-like 1 promoter. (PubMed id 21352594)1 Ulke-LemAce A....MacDonald J.A. (BMC Mol. Biol. 2011)
    5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    6. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 219537 HGNC: 32394 AceView: CHASM Ensembl:ENSG00000214872 euGenes: HUgn219537
    ECgene: SMTNL1 H-InvDB: SMTNL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SMTNL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMTNL1 gene:
    Search GeneIP for patents involving SMTNL1

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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