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SMTNL1 smoothelin like 1 [ Homo sapiens (human) ]

Gene ID: 219537, updated on 11-Apr-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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Location:
11q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57537595..57550272)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57487765..57500440)
105.20220307 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
  • 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_2023_10

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

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