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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
  • Smoothelin-Like Protein 1 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

  • The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]

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 SMTN.

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).

Additional gene information for SMTNL1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H057513 1.3 Ensembl ENCODE 33.5 -22.9 -22861 3 HDGF FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 ETS1 ZNF121 GATA2 SMTNL1 TIMM10 SLC43A1 GC11P057511
GH11H057547 1 Ensembl ENCODE 33.5 +10.2 10222 1 CTCF TFAP4 PKNOX1 SAP130 ARID4B EBF1 BATF RAD21 EED ZNF600 SMTNL1 UBE2L6
GH11H057481 1.1 Ensembl ENCODE 20.6 -54.9 -54876 2 RB1 ZFP64 KLF17 RAD21 GLIS2 ZNF366 ZNF143 RUNX3 SMARCA5 USF2 TIMM10 SMTNL1 RTN4RL2 RN7SKP259 SLC43A1 P2RX3 SSRP1 ENSG00000254979 SLC43A3 UBE2L6
GH11H057774 2 FANTOM5 Ensembl ENCODE dbSUPER 4.1 +244.4 244390 15 PKNOX1 FOXA2 MLX SIN3A FEZF1 FOS SP5 NFYC JUNB REST YPEL4 TIMM10 MED19 SELENOH BTBD18 CTNND1 ENSG00000254732 CLP1 ENSG00000254602 SMTNL1
GH11H057790 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.1 +255.0 255031 3 HDGF PKNOX1 ATF1 TBL1XR1 SIN3A BATF ZNF143 ATF7 ETV6 RUNX3 MED19 SLC43A3 SMTNL1 UBE2L6 ZDHHC5 CLP1 PIR53177 GC11P057856
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

Gene Families for SMTNL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the smoothelin family.
Family:
  • Belongs to the smoothelin family.
genes like me logo Genes that share domains with SMTNL1: view

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).

Phenotypes From GWAS Catalog for SMTNL1 Gene

Gene Ontology (GO) - Molecular Function for SMTNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
GO:0005523 tropomyosin binding IEA --
GO:0008157 protein phosphatase 1 binding IEA --
GO:0043621 protein self-association IEA --
GO:0051401 CH domain binding IEA --
genes like me logo Genes that share ontologies with SMTNL1: view
genes like me logo Genes that share phenotypes with SMTNL1: view

Animal Models for SMTNL1 Gene

MGI Knock Outs for SMTNL1:

Animal Model Products

CRISPR Products

miRNA for SMTNL1 Gene

miRTarBase miRNAs that target SMTNL1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SMTNL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMTNL1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for SMTNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0030016 myofibril IEA --
GO:0031430 M band IEA --
GO:0031674 I band IEA --
genes like me logo Genes that share ontologies with SMTNL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMTNL1 Gene

Pathways & Interactions for SMTNL1 Gene

SuperPathways for SMTNL1 Gene

No Data Available

Interacting Proteins for SMTNL1 Gene

Selected Interacting proteins: A8MU46-SMTL1_HUMAN for SMTNL1 Gene via IID

Gene Ontology (GO) - Biological Process for SMTNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014823 response to activity IEA --
GO:0018105 peptidyl-serine phosphorylation IEA --
GO:0042493 response to drug IEA --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
GO:0045907 positive regulation of vasoconstriction ISS --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SMTNL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of SMTNL1 Gene:

SMTNL1

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).

Evidence on tissue expression from TISSUES for SMTNL1 Gene

  • Muscle(3.3)
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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SMTNL1 33 34
  • 98.72 (n)
dog
(Canis familiaris)
Mammalia SMTNL1 34 33
  • 79.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smtnl1 33
  • 77.66 (n)
mouse
(Mus musculus)
Mammalia Smtnl1 16 34 33
  • 77.19 (n)
cow
(Bos Taurus)
Mammalia SMTNL1 34 33
  • 74.62 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMTNL1 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 12 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SMTNL1 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMTNL1 34
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii smtna 34
  • 31 (a)
OneToMany
smtnl1 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 34
  • 37 (a)
ManyToMany
Species where no ortholog for SMTNL1 was found in the sources mined by GeneCards:
  • 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
rs1000044799 -- 57,547,623(+) AGTCC(A/G)GGGAT intron-variant
rs1000223759 -- 57,537,355(+) CAGGG(C/T)GGAAG utr-variant-5-prime
rs1000338301 -- 57,548,391(+) ACAGC(C/T)GGGTG intron-variant
rs1000588555 -- 57,535,744(+) GACTG(C/T)TCTCC upstream-variant-2KB
rs1000645034 -- 57,542,327(+) TGTGA(A/C)CACCT intron-variant, upstream-variant-2KB

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 TA (The Journal of biological chemistry 2010) 3 4 60
  2. Deletion of the protein kinase A/protein kinase G target SMTNL1 promotes an exercise-adapted phenotype in vascular smooth muscle. (PMID: 18310078) Wooldridge AA … Haystead TA (The Journal of biological chemistry 2008) 3 4 60
  3. Modulation of smooth muscle contractility by CHASM, a novel member of the smoothelin family of proteins. (PMID: 15327999) Borman MA … Haystead TA (FEBS letters 2004) 2 3 60
  4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2016) 3 60
  5. 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 TA (The Journal of biological chemistry 2015) 3 60

Products for SMTNL1 Gene

Sources for SMTNL1 Gene

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