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] See more...

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 4
  • 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. Gene Ontology (GO) annotations related to this gene include calmodulin binding and protein phosphatase 1 binding. An important paralog of this gene is MICALL1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SMTNL1 Gene

Genomics for SMTNL1 Gene

GeneHancer (GH) Regulatory Elements for SMTNL1 Gene

Promoters and enhancers for SMTNL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J057536 Enhancer 0.3 Ensembl ENCODE 784.1 +1.0 1035 4.1 SMTNL1 TIMM10 lnc-TIMM10-1
GH11J057513 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 33.5 -22.6 -22551 4 SMARCE1 USF2 HDAC2 NR2F6 MYC L3MBTL2 MAX MNT ZNF148 ELF3 SLC43A1 TIMM10 SMTNL1 RF00019-015
GH11J057547 Enhancer 0.8 Ensembl ENCODE 33.5 +10.2 10213 1.5 ZNF687 TRIM22 IKZF2 PKNOX1 DPF2 EED BCL11A RUNX3 IKZF1 NR2F1 lnc-SERPING1-2 SMTNL1 lnc-SERPING1-3
GH11J057584 Enhancer 0.8 Ensembl CraniofacialAtlas 21.1 +49.0 49012 4.9 HLF MAX SP1 CEBPG CEBPA RXRA JUND POLR2A YY1 NR2F2 TIMM10 SMTNL1 MIR130A ENSG00000254602 YPEL4 CLP1 RPS4XP13 SERPING1
GH11J057560 Enhancer 0.4 Ensembl 32.1 +23.3 23332 1.4 NFIB RFX1 DPF2 ZBTB33 SMTNL1 TIMM10 MIR130A SERPING1 ENSG00000254602 CLP1 YPEL4 P2RX3 SSRP1 UBE2L6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMTNL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMTNL1 gene promoter:
  • ATF
  • Evi-1
  • HEN1
  • ITF-2
  • Lmo2
  • Pax-6
  • RORalpha2
  • SRF
  • SRF (504 AA)
  • Tal-1beta

Genomic Locations for SMTNL1 Gene

Genomic Locations for SMTNL1 Gene
chr11:57,537,552-57,550,274
(GRCh38/hg38)
Size:
12,723 bases
Orientation:
Plus strand
chr11:57,308,979-57,318,108
(GRCh37/hg19)
Size:
9,130 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
    Secondary Accessions:
    • E9PPJ3

    Protein attributes for SMTNL1 Gene

    Size:
    494 amino acids
    Molecular mass:
    52987 Da
    Quaternary structure:
    • Interacts with PPP1R12A.

neXtProt entry for SMTNL1 Gene

Post-translational modifications for SMTNL1 Gene

  • Maximal phosphorylation of Ser-336 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:
  • Smoothelin-like protein 1 (SMTL1_HUMAN)

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 IBA 21873635
GO:0008157 protein phosphatase 1 binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMTNL1

Clone Products

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
cytoskeleton 3
cytosol 2

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:0005815 microtubule organizing center IBA 21873635
GO:0030016 myofibril IEA --
GO:0031430 M band IBA 21873635
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

PathCards logo

SuperPathways for SMTNL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMTNL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 actin cytoskeleton organization IBA 21873635
GO:0045907 positive regulation of vasoconstriction IBA,ISS --
GO:0097756 negative regulation of blood vessel diameter 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

(1) REFSEQ mRNAs :
(20) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMTNL1

Clone Products

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

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 32
  • 98.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMTNL1 33 32
  • 79.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smtnl1 32
  • 77.66 (n)
mouse
(Mus musculus)
Mammalia Smtnl1 17 33 32
  • 77.19 (n)
cow
(Bos Taurus)
Mammalia SMTNL1 33 32
  • 74.62 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMTNL1 33
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 12 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SMTNL1 33
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMTNL1 33
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii smtna 33
  • 31 (a)
OneToMany
smtnl1 33
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 33
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SMTNL1: view image

Paralogs for SMTNL1 Gene

Paralogs for SMTNL1 Gene

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

  • SMTL1_HUMAN
  • C9J621_HUMAN
  • E9PPJ3_HUMAN
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 Variation AA Info Type
rs1000044799 -- 57,547,623(+) G/A intron_variant
rs1000223759 -- 57,537,355(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000338301 -- 57,548,391(+) T/C intron_variant
rs1000588555 -- 57,535,744(+) C/T upstream_transcript_variant
rs1000645034 -- 57,542,327(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 56
  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 56
  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 56
  4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 56
  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 56

Products for SMTNL1 Gene

Sources for SMTNL1 Gene