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    Smtn smoothelin [ Mus musculus (house mouse) ]

    Gene ID: 29856, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Smtnprovided by MGI
    Official Full Name
    smoothelinprovided by MGI
    Primary source
    MGI:MGI:1354727
    See related
    Ensembl:ENSMUSG00000020439 AllianceGenome:MGI:1354727
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    smsmo
    Summary
    Predicted to enable actin binding activity. Acts upstream of or within negative regulation of systemic arterial blood pressure and positive regulation of cardiac muscle contraction. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be part of filamentous actin. Predicted to be active in microtubule organizing center. Is expressed in alimentary system; bladder wall; limb; and musculature. Orthologous to human SMTN (smoothelin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bladder adult (RPKM 131.6), colon adult (RPKM 44.3) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Smtn in Genome Data Viewer
    Location:
    11 A1; 11 2.47 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (3467522..3489337, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (3517522..3539292, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene phospholipase A2, group III Neighboring gene inositol polyphosphate 5-phosphatase J Neighboring gene selenoprotein M Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:3435535-3435644 Neighboring gene predicted gene 11946 Neighboring gene STARR-positive B cell enhancer mm9_chr11:3439140-3439441 Neighboring gene STARR-seq mESC enhancer starr_28360 Neighboring gene predicted gene, 34488 Neighboring gene predicted gene, 39567

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Structure and chromosome location of Smtn, the mouse smoothelin gene. Rensen S, et al. Cytogenet Cell Genet, 2000. PMID 10965129
    2. Smoothelin-a is essential for functional intestinal smooth muscle contractility in mice. Niessen P, et al. Gastroenterology, 2005 Nov. PMID 16285958
    3. Smoothelin-B deficiency results in reduced arterial contractility, hypertension, and cardiac hypertrophy in mice. Rensen SS, et al. Circulation, 2008 Aug 19. PMID 18678771
    4. A novel isoform of the smooth muscle cell differentiation marker smoothelin. Krämer J, et al. J Mol Med (Berl), 1999 Feb. PMID 10023782
    5. Patent ductus arteriosus in mice with smooth muscle-specific Jag1 deletion. Feng X, et al. Development, 2010 Dec. PMID 21068062, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. smoothelins as key determinants of arterial smooth muscle contractility and cardiovascular performance
      Title: Smoothelin-B deficiency results in reduced arterial contractility, hypertension, and cardiac hypertrophy in mice.
    2. Smoothelin-A is essential for functional contractility of intestinal smooth muscle.
      Title: Smoothelin-a is essential for functional intestinal smooth muscle contractility in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    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 MGI

    Function Evidence Code Pubs
    enables actin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of systemic arterial blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    smoothelin
    Names
    smoothelin A

    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_001159284.2 → NP_001152756.1  smoothelin isoform b

      See identical proteins and their annotated locations for NP_001152756.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL713875
      Consensus CDS
      CCDS24366.1
      UniProtKB/TrEMBL
      D3Z3Q3
      Related
      ENSMUSP00000133155.2, ENSMUST00000170588.8
      Conserved Domains (2) summary
      cd00014
      Location:808 → 908
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:568 → 617
      Smoothelin; Smoothelin cytoskeleton protein

    2. NM_001284427.2 → NP_001271356.1  smoothelin isoform a

      See identical proteins and their annotated locations for NP_001271356.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (a).
      Source sequence(s)
      AL713875
      Consensus CDS
      CCDS70129.1
      UniProtKB/Swiss-Prot
      Q3TCV2, Q6NSW1, Q8CD93, Q921U8, Q9JHG8, Q9JLU7, Q9R0D0, Q9R253, Q9Z0Q2
      UniProtKB/TrEMBL
      D3Z3Q3
      Related
      ENSMUSP00000074621.4, ENSMUST00000075118.10
      Conserved Domains (3) summary
      PHA03247
      Location:107 → 454
      PHA03247; large tegument protein UL36; Provisional
      cd00014
      Location:808 → 912
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:570 → 617
      Smoothelin; Smoothelin cytoskeleton protein

    3. NM_001284428.2 → NP_001271357.1  smoothelin isoform b

      See identical proteins and their annotated locations for NP_001271357.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL713875
      Consensus CDS
      CCDS24366.1
      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (2) summary
      cd00014
      Location:808 → 908
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:568 → 617
      Smoothelin; Smoothelin cytoskeleton protein

    4. NM_001284429.1 → NP_001271358.1  smoothelin isoform c

      See identical proteins and their annotated locations for NP_001271358.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate exon in the 5' end and differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (c) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK030932, AK085412, AL713875, AW490128
      UniProtKB/Swiss-Prot
      Q921U8
      Related
      ENSMUST00000154861.8
      Conserved Domains (2) summary
      cd00014
      Location:559 → 659
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:319 → 368
      Smoothelin; Smoothelin cytoskeleton protein

    5. NM_001425501.1 → NP_001412430.1  smoothelin isoform b

      Status: VALIDATED

      Source sequence(s)
      AL713875

    6. NM_001425502.1 → NP_001412431.1  smoothelin isoform d

      Status: VALIDATED

      Source sequence(s)
      AL713875
      UniProtKB/TrEMBL
      A0AAQ4VMU7
      Related
      ENSMUSP00000160000.1, ENSMUST00000249902.1

    7. NM_001425503.1 → NP_001412432.1  smoothelin isoform e

      Status: VALIDATED

      Source sequence(s)
      AL713875

    8. NM_001425504.1 → NP_001412433.1  smoothelin isoform f

      Status: VALIDATED

      Source sequence(s)
      AL713875
      UniProtKB/TrEMBL
      D3YVS1, Q9D7A0
      Related
      ENSMUSP00000020718.6, ENSMUST00000020718.11

    9. NM_013870.4 → NP_038898.2  smoothelin isoform b

      See identical proteins and their annotated locations for NP_038898.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).
      Source sequence(s)
      AL713875
      Consensus CDS
      CCDS24366.1
      UniProtKB/TrEMBL
      D3Z3Q3
      Related
      ENSMUSP00000020721.9, ENSMUST00000020721.15
      Conserved Domains (2) summary
      cd00014
      Location:808 → 908
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:568 → 617
      Smoothelin; Smoothelin cytoskeleton protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      3467522..3489337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156750.1 → XP_036012643.1  smoothelin isoform X9

      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:107 → 454
      PHA03247; large tegument protein UL36; Provisional
      pfam12510
      Location:570 → 617
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:730 → 841
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins

    2. XM_017314586.3 → XP_017170075.1  smoothelin isoform X4

      UniProtKB/Swiss-Prot
      Q3TCV2, Q6NSW1, Q8CD93, Q921U8, Q9JHG8, Q9JLU7, Q9R0D0, Q9R253, Q9Z0Q2
      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:107 → 454
      PHA03247; large tegument protein UL36; Provisional
      cd00014
      Location:808 → 912
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:570 → 617
      Smoothelin; Smoothelin cytoskeleton protein

    3. XM_006514724.4 → XP_006514787.1  smoothelin isoform X8

      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:107 → 454
      PHA03247; large tegument protein UL36; Provisional
      cd00014
      Location:839 → 943
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:601 → 648
      Smoothelin; Smoothelin cytoskeleton protein

    4. XM_036156747.1 → XP_036012640.1  smoothelin isoform X5

      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:135 → 482
      PHA03247; large tegument protein UL36; Provisional
      pfam12510
      Location:598 → 645
      Smoothelin; Smoothelin cytoskeleton protein
      cd21258
      Location:758 → 868
      CH_SMTNA; calponin homology (CH) domain found in smoothelin-A and similar proteins

    5. XM_036156748.1 → XP_036012641.1  smoothelin isoform X6

      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:135 → 482
      PHA03247; large tegument protein UL36; Provisional
      pfam12510
      Location:598 → 645
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:758 → 869
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins

    6. XM_030246062.1 → XP_030101922.1  smoothelin isoform X1

      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:135 → 482
      PHA03247; large tegument protein UL36; Provisional
      cd00014
      Location:836 → 940
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:598 → 645
      Smoothelin; Smoothelin cytoskeleton protein

    7. XM_030246063.1 → XP_030101923.1  smoothelin isoform X2

      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:135 → 482
      PHA03247; large tegument protein UL36; Provisional
      pfam00307
      Location:836 → 936
      CH; Calponin homology (CH) domain
      pfam12510
      Location:598 → 645
      Smoothelin; Smoothelin cytoskeleton protein

    8. XM_030246064.1 → XP_030101924.1  smoothelin isoform X3

      UniProtKB/TrEMBL
      D3Z3Q3
      Conserved Domains (3) summary
      PHA03247
      Location:135 → 482
      PHA03247; large tegument protein UL36; Provisional
      cd00014
      Location:836 → 910
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam12510
      Location:598 → 645
      Smoothelin; Smoothelin cytoskeleton protein

    9. XM_036156749.1 → XP_036012642.1  smoothelin isoform X7

      Conserved Domains (3) summary
      pfam12510
      Location:171 → 218
      Smoothelin; Smoothelin cytoskeleton protein
      cl00030
      Location:407 → 489
      CH_SF; calponin homology (CH) domain superfamily
      cl21454
      Location:28 → 121
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q921U8.2 GenPept UniProtKB/Swiss-Prot:Q921U8

    Gene LinkOut

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