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Aliases for SMTNL1 Gene

Aliases for SMTNL1 Gene

  • Smoothelin-Like 1 2 3 5
  • Calponin Homology-Associated Smooth Muscle Protein 2 3
  • CHASM 3

External Ids for SMTNL1 Gene

Previous GeneCards Identifiers for SMTNL1 Gene

  • GC11P057066
  • GC11P057309
  • GC11P053658

Summaries for SMTNL1 Gene

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. GO annotations related to this gene include calmodulin binding and protein phosphatase 1 binding. An important paralog of this gene is SMTNL2.

UniProtKB/Swiss-Prot for SMTNL1 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMTNL1 Gene

Genomics for SMTNL1 Gene

Regulatory Elements for SMTNL1 Gene

Enhancers for SMTNL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMTNL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMTNL1 Gene

Chromosome:
11
Start:
57,537,552 bp from pter
End:
57,550,274 bp from pter
Size:
12,723 bases
Orientation:
Plus strand

Genomic View for SMTNL1 Gene

Genes around SMTNL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMTNL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMTNL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMTNL1 Gene

Proteins for SMTNL1 Gene

  • Protein details for SMTNL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MU46-SMTL1_HUMAN
    Recommended name:
    Smoothelin-like protein 1
    Protein Accession:
    A8MU46

    Protein attributes for SMTNL1 Gene

    Size:
    457 amino acids
    Molecular mass:
    48953 Da
    Quaternary structure:
    • Interacts with PPP1R12A.

neXtProt entry for SMTNL1 Gene

Proteomics data for SMTNL1 Gene at MOPED

Post-translational modifications for SMTNL1 Gene

  • Maximal phosphorylation of Ser-299 correlates with maximal relaxation of aorta in response to acetylcholine.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMTNL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMTNL1 Gene

Domains & Families for SMTNL1 Gene

Protein Domains for SMTNL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMTNL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MU46

UniProtKB/Swiss-Prot:

SMTL1_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
  • Belongs to the smoothelin family.
Domain:
  • Contains 1 CH (calponin-homology) domain.
Family:
  • Belongs to the smoothelin family.
genes like me logo Genes that share domains with SMTNL1: view

No data available for Gene Families for SMTNL1 Gene

Function for SMTNL1 Gene

Molecular function for SMTNL1 Gene

UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with SMTNL1: view

Animal Models for SMTNL1 Gene

MGI Knock Outs for SMTNL1:

Animal Model Products

miRNA for SMTNL1 Gene

miRTarBase miRNAs that target SMTNL1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMTNL1 Gene

Localization for SMTNL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMTNL1 Gene

Cytoplasm, myofibril. Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Nucleus. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMTNL1 Gene COMPARTMENTS Subcellular localization image for SMTNL1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SMTNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with SMTNL1: view

Pathways & Interactions for SMTNL1 Gene

SuperPathways for SMTNL1 Gene

No Data Available

Interacting Proteins for SMTNL1 Gene

Gene Ontology (GO) - Biological Process for SMTNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014823 response to activity IEA --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
GO:0048644 muscle organ morphogenesis IEA --
genes like me logo Genes that share ontologies with SMTNL1: view

No data available for Pathways by source and SIGNOR curated interactions for SMTNL1 Gene

Drugs & Compounds for SMTNL1 Gene

No Compound Related Data Available

Transcripts for SMTNL1 Gene

mRNA/cDNA for SMTNL1 Gene

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SMTNL1 Gene

Smoothelin-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMTNL1 Gene

No ASD Table

Relevant External Links for SMTNL1 Gene

GeneLoc Exon Structure for
SMTNL1
ECgene alternative splicing isoforms for
SMTNL1

Expression for SMTNL1 Gene

mRNA expression in normal human tissues for SMTNL1 Gene

mRNA differential expression in normal tissues according to GTEx for SMTNL1 Gene

This gene is overexpressed in Muscle - Skeletal (x46.6).

Protein differential expression in normal tissues from HIPED for SMTNL1 Gene

This gene is overexpressed in Tonsil (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMTNL1 Gene



SOURCE GeneReport for Unigene cluster for SMTNL1 Gene Hs.68756

mRNA Expression by UniProt/SwissProt for SMTNL1 Gene

A8MU46-SMTL1_HUMAN
Tissue specificity: Expressed in striated muscles, specifically in type 2a fibers (at protein level).
genes like me logo Genes that share expression patterns with SMTNL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for SMTNL1 Gene

Orthologs for SMTNL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMTNL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMTNL1 35
  • 74.62 (n)
  • 67.25 (a)
SMTNL1 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMTNL1 35
  • 79.49 (n)
  • 73.25 (a)
SMTNL1 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smtnl1 35
  • 77.19 (n)
  • 70.61 (a)
Smtnl1 16
Smtnl1 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMTNL1 35
  • 98.72 (n)
  • 98.18 (a)
SMTNL1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smtnl1 35
  • 77.66 (n)
  • 70.74 (a)
oppossum
(Monodelphis domestica)
Mammalia SMTNL1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 12 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SMTNL1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMTNL1 36
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii smtna 36
  • 31 (a)
OneToMany
smtnl1 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 36
  • 37 (a)
ManyToMany
Species with no ortholog for SMTNL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SMTNL1 Gene

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

Paralogs for SMTNL1 Gene

(3) SIMAP similar genes for SMTNL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SMTNL1: view

Variants for SMTNL1 Gene

Sequence variations from dbSNP and Humsavar for SMTNL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1124942 -- 57,549,443(-) ATGGG(A/C/T)GCAGG intron-variant
rs1798165 -- 57,540,889(-) tacta(A/C)aaata intron-variant, upstream-variant-2KB
rs11608170 -- 57,540,960(+) cgcta(C/T)gggct intron-variant, upstream-variant-2KB
rs7929430 -- 57,545,441(+) ctcta(C/G)taata intron-variant
rs12223229 -- 57,545,996(+) GGCCC(A/C/G/T)GGGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SMTNL1 Gene

Variant ID Type Subtype PubMed ID
nsv832163 CNV Gain 17160897

Variation tolerance for SMTNL1 Gene

Gene Damage Index Score: 3.30; 53.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMTNL1 Gene

Human Gene Mutation Database (HGMD)
SMTNL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMTNL1 Gene

Disorders for SMTNL1 Gene

Relevant External Links for SMTNL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMTNL1

No disorders were found for SMTNL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMTNL1 Gene

Publications for SMTNL1 Gene

  1. Smoothelin-like 1 protein regulates myosin phosphatase-targeting subunit 1 expression during sexual development and pregnancy. (PMID: 20634291) Lontay B. … Haystead T.A. (J. Biol. Chem. 2010) 3 4 67
  2. Modulation of smooth muscle contractility by CHASM, a novel member of the smoothelin family of proteins. (PMID: 15327999) Borman M.A. … Haystead T.A. (FEBS Lett. 2004) 2 3
  3. Pregnancy and Smoothelin-like Protein 1 (SMTNL1) Deletion Promote the Switching of Skeletal Muscle to a Glycolytic Phenotype in Human and Mice. (PMID: 26048986) Lontay B. … Haystead T.A. (J. Biol. Chem. 2015) 3
  4. Mapping and functional characterization of the murine smoothelin-like 1 promoter. (PMID: 21352594) Ulke-LemAce A. … MacDonald J.A. (BMC Mol. Biol. 2011) 3
  5. Deletion of the protein kinase A/protein kinase G target SMTNL1 promotes an exercise-adapted phenotype in vascular smooth muscle. (PMID: 18310078) Wooldridge A.A. … Haystead T.A. (J. Biol. Chem. 2008) 3

Products for SMTNL1 Gene

Sources for SMTNL1 Gene

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