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    SMTNL1 smoothelin like 1 [ Homo sapiens (human) ]

    Gene ID: 219537, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMTNL1provided by HGNC
    Official Full Name
    smoothelin like 1provided by HGNC
    Primary source
    HGNC:HGNC:32394
    See related
    Ensembl:ENSG00000214872 MIM:613664; AllianceGenome:HGNC:32394
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHASM
    Summary
    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]
    Expression
    Biased expression in esophagus (RPKM 3.0), prostate (RPKM 1.5) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMTNL1 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57537595..57550272)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57487765..57500440)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57305068..57317745)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 605, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4720 Neighboring gene translocase of inner mitochondrial membrane 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57310876-57311766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4723 Neighboring gene ubiquitin conjugating enzyme E2 L6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3351 Neighboring gene ribosomal protein S4X pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The role of the calponin homology domain of smoothelin-like 1 (SMTNL1) in myosin phosphatase inhibition and smooth muscle contraction. Borman MA, et al. Mol Cell Biochem, 2009 Jul. PMID 19219534, Free PMC Article
    2. Smoothelin-Like Protein 1 Regulates Development and Metabolic Transformation of Skeletal Muscle in Hyperthyroidism. Major E, et al. Front Endocrinol (Lausanne), 2021. PMID 34675885, Free PMC Article
    3. Pregnancy and Smoothelin-like Protein 1 (SMTNL1) Deletion Promote the Switching of Skeletal Muscle to a Glycolytic Phenotype in Human and Mice. Lontay B, et al. J Biol Chem, 2015 Jul 17. PMID 26048986, Free PMC Article
    4. Mapping and functional characterization of the murine smoothelin-like 1 promoter. Ulke-Lemée A, et al. BMC Mol Biol, 2011 Feb 27. PMID 21352594, Free PMC Article
    5. Modulation of smooth muscle contractility by CHASM, a novel member of the smoothelin family of proteins. Borman MA, et al. FEBS Lett, 2004 Aug 27. PMID 15327999

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Smoothelin-Like Protein 1 Regulates Development and Metabolic Transformation of Skeletal Muscle in Hyperthyroidism.
      Title: Smoothelin-Like Protein 1 Regulates Development and Metabolic Transformation of Skeletal Muscle in Hyperthyroidism.
    2. Pregnancy promotes switching of skeletal muscle to a glycolytic phenotype through the smoothelin-like protein 1 transcriptional cofactor.
      Title: Pregnancy and Smoothelin-like Protein 1 (SMTNL1) Deletion Promote the Switching of Skeletal Muscle to a Glycolytic Phenotype in Human and Mice.
    3. The Smtnl1 proximal promoter enhances expression up to 8-fold in smooth muscle cells and a second activating region lays 500 bp further upstream.
      Title: Mapping and functional characterization of the murine smoothelin-like 1 promoter.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CH domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables disordered domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein phosphatase 1 binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tropomyosin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in muscle organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vasoconstriction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in I band IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in M band IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in contractile muscle fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of filamentous actin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    smoothelin-like protein 1
    Names
    calponin homology-associated smooth muscle protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001105565.3 → NP_001099035.2  smoothelin-like protein 1

      See identical proteins and their annotated locations for NP_001099035.2

      Status: REVIEWED

      Source sequence(s)
      AP002893
      Consensus CDS
      CCDS44599.2
      UniProtKB/Swiss-Prot
      A8MU46, E9PPJ3
      Related
      ENSP00000432651.1, ENST00000527972.6
      Conserved Domains (2) summary
      TIGR00927
      Location:19 → 278
      2A1904; K+-dependent Na+/Ca+ exchanger
      cd21260
      Location:379 → 494
      CH_SMTNL1; calponin homology (CH) domain found in smoothelin-like protein 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57537595..57550272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57487765..57500440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MU46.2 GenPept UniProtKB/Swiss-Prot:A8MU46

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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