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    SMTN smoothelin [ Homo sapiens (human) ]

    Gene ID: 6525, updated on 13-Aug-2016
    Official Symbol
    SMTNprovided by HGNC
    Official Full Name
    smoothelinprovided by HGNC
    Primary source
    HGNC:HGNC:11126
    See related
    Ensembl:ENSG00000183963 HPRD:03675; MIM:602127; Vega:OTTHUMG00000151203
    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
    Summary
    This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]
    Orthologs
    Location:
    22q12.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (31081296..31104624)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31477282..31500610)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene taurine up-regulated 1 (non-protein coding) Neighboring gene RNA, 7SL, cytoplasmic 633, pseudogene Neighboring gene uncharacterized LOC105372995 Neighboring gene ribosomal protein S15a pseudogene 37 Neighboring gene inositol polyphosphate-5-phosphatase J Neighboring gene selenoprotein M

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ35168, FLJ35365, FLJ35620, FLJ38597

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    smooth muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    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.

    Genomic

    1. NG_029838.1 RefSeqGene

      Range
      5001..28329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001207017.1NP_001193946.1  smoothelin isoform d

      See identical proteins and their annotated locations for NP_001193946.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (d).
      Source sequence(s)
      AK304084, BC034237, Z49989
      Consensus CDS
      CCDS74845.1
      UniProtKB/Swiss-Prot
      P53814
      UniProtKB/TrEMBL
      A0A087X1R1, B4E229
      Related
      ENSP00000484398, ENST00000619644
      Conserved Domains (2) summary
      cd00014
      Location:887991
      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:655704
      Smoothelin; Smoothelin cytoskeleton protein
    2. NM_001207018.1NP_001193947.1  smoothelin isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two exons from the 5' end, has an alternate 5' exon, lacks an in-frame exon in the middle region and has an additional exon in the 3' region, compared to variant 4. The resulting isoform (e) has distinct N- and C-termini, and lacks an internal segment, compared to isoform d.
      Source sequence(s)
      AK295418, BC034237, Z49989
      Consensus CDS
      CCDS74846.1
      UniProtKB/Swiss-Prot
      P53814
      UniProtKB/TrEMBL
      A0A087WVP4, B4DI56
      Related
      ENSP00000479578, ENST00000612341
      Conserved Domains (2) summary
      cd00014
      Location:858958
      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:626675
      Smoothelin; Smoothelin cytoskeleton protein
    3. NM_006932.4NP_008863.3  smoothelin isoform c

      See identical proteins and their annotated locations for NP_008863.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, which results in a downstream AUG start codon, and lacks an in-frame exon in the middle region, compared to variant 4. The resulting isoform (c, also referred to as L1, B and c1) is shorter at the N-terminus and lacks an internal segment, compared to isoform d. This isoform is highly expressed in all vascularized organs and represents a vascular smooth muscle-specific form. This transcript also includes an alternate downstream translation initiation site, which results in the smoothelin-A product, a visceral smooth muscle-specific form.
      Source sequence(s)
      AJ010306, BC034237, DC342566, Z49989
      Consensus CDS
      CCDS13886.1
      UniProtKB/Swiss-Prot
      P53814
      Related
      ENSP00000328635, OTTHUMP00000199381, ENST00000347557, OTTHUMT00000321766
      Conserved Domains (2) summary
      cd00014
      Location:802906
      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:570619
      Smoothelin; Smoothelin cytoskeleton protein
    4. NM_134269.2NP_599031.1  smoothelin isoform b

      See identical proteins and their annotated locations for NP_599031.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, which results in a downstream AUG start codon, lacks an in-frame exon in the middle region and has an additional exon in the 3' region, compared to variant 4. The resulting isoform (b, also referred to as L2 and B2) is shorter at the N-terminus, lacks a segment in the middle region and has a slightly shorter and distinct C-terminus, compared to isoform d.
      Source sequence(s)
      BC034237, DC342566, Z49989
      Consensus CDS
      CCDS13888.1
      UniProtKB/Swiss-Prot
      P53814
      Related
      ENSP00000329532, OTTHUMP00000199382, ENST00000333137, OTTHUMT00000321767
      Conserved Domains (2) summary
      cd00014
      Location:802902
      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:570619
      Smoothelin; Smoothelin cytoskeleton protein
    5. NM_134270.2NP_599032.2  smoothelin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate 5' exon, which results in a downstream AUG start codon, lacks an in-frame exon in the middle region and has an additional in-frame exon in the 3' region, compared to variant 4. The resulting isoform (a, also referred to as B3) is shorter at the N-terminus, lacks a segment in the middle region and has an additional segment in the C-terminal region, compared to isoform d.
      Source sequence(s)
      BC034237, DC342566, Z49989
      Consensus CDS
      CCDS13887.1
      UniProtKB/Swiss-Prot
      P53814
      Related
      ENSP00000351593, OTTHUMP00000199383, ENST00000358743, OTTHUMT00000321768
      Conserved Domains (2) summary
      cd00014
      Location:802929
      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:570619
      Smoothelin; Smoothelin cytoskeleton protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      31081296..31104624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028913.1XP_016884402.1  

      Conserved Domains (2) summary
      cd00014
      Location:887991
      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:655704
      Smoothelin; Smoothelin cytoskeleton protein
    2. XM_017028916.1XP_016884405.1  

    3. XM_017028917.1XP_016884406.1  

    4. XM_011530337.2XP_011528639.1  

      Conserved Domains (2) summary
      cd00014
      Location:811911
      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:650704
      Smoothelin; Smoothelin cytoskeleton protein
    5. XM_011530336.2XP_011528638.1  

      Conserved Domains (2) summary
      cd00014
      Location:811915
      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:650704
      Smoothelin; Smoothelin cytoskeleton protein
    6. XM_017028918.1XP_016884407.1  

    7. XM_011530340.2XP_011528642.1  

      Conserved Domains (1) summary
      pfam12510
      Location:619673
      Smoothelin; Smoothelin cytoskeleton protein
    8. XM_011530339.2XP_011528641.1  

      Conserved Domains (1) summary
      pfam12510
      Location:650704
      Smoothelin; Smoothelin cytoskeleton protein
    9. XM_011530333.2XP_011528635.1  

      Conserved Domains (2) summary
      cd00014
      Location:887987
      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:650704
      Smoothelin; Smoothelin cytoskeleton protein
    10. XM_017028915.1XP_016884404.1  

    11. XM_017028914.1XP_016884403.1  

    12. XM_017028919.1XP_016884408.1  

    13. XM_011530338.2XP_011528640.1  

      Conserved Domains (2) summary
      cd00014
      Location:780884
      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:619673
      Smoothelin; Smoothelin cytoskeleton protein
    14. XM_006724302.1XP_006724365.1  

      Conserved Domains (2) summary
      cd00014
      Location:745849
      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:508562
      Smoothelin; Smoothelin cytoskeleton protein
    15. XM_006724298.1XP_006724361.1  

      Conserved Domains (2) summary
      cd00014
      Location:833937
      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:596650
      Smoothelin; Smoothelin cytoskeleton protein
    16. XM_011530341.1XP_011528643.1  

      Conserved Domains (2) summary
      cd00014
      Location:491595
      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:254308
      Smoothelin; Smoothelin cytoskeleton protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      31437118..31460447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)