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    SMTN smoothelin [ Homo sapiens (human) ]

    Gene ID: 6525, updated on 3-Dec-2024

    Summary

    Official Symbol
    SMTNprovided by HGNC
    Official Full Name
    smoothelinprovided by HGNC
    Primary source
    HGNC:HGNC:11126
    See related
    Ensembl:ENSG00000183963 MIM:602127; AllianceGenome:HGNC:11126
    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]
    Expression
    Broad expression in prostate (RPKM 39.0), endometrium (RPKM 30.0) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMTN in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31064118..31104624)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31527653..31568123)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31460104..31500610)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13620 Neighboring gene taurine up-regulated 1 Neighboring gene MPRA-validated peak4481 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31439932-31440502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31440503-31441072 Neighboring gene RNA, 7SL, cytoplasmic 633, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31481712-31482338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31492256-31492830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31492831-31493404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31499788-31500738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31502238-31503010 Neighboring gene uncharacterized LOC105372995 Neighboring gene uncharacterized LOC124905100 Neighboring gene selenoprotein M

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35168, FLJ35365, FLJ35620, FLJ38597

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in smooth muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029838.2 RefSeqGene

      Range
      22202..45508
      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/TrEMBL
      A0A087X1R1, B4E229
      Related
      ENSP00000484398.1, ENST00000619644.5
      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_001207018.2NP_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/TrEMBL
      A0A087WVP4, B4DI56
      Related
      ENSP00000479578.1, ENST00000612341.4
      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_001382638.1NP_001369567.1  smoothelin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005005
      Consensus CDS
      CCDS13888.1
      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      pfam12510
      Location:570619
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:800911
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    4. NM_001382639.1NP_001369568.1  smoothelin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005005
      Consensus CDS
      CCDS13888.1
      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      pfam12510
      Location:570619
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:800911
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    5. NM_001382640.1NP_001369569.1  smoothelin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005005
      Consensus CDS
      CCDS13888.1
      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      pfam12510
      Location:570619
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:800911
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    6. NM_001382641.1NP_001369570.1  smoothelin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005005
      Consensus CDS
      CCDS13888.1
      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      pfam12510
      Location:570619
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:800911
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    7. NM_001382642.1NP_001369571.1  smoothelin isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      pfam12510
      Location:664713
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:8941005
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    8. NM_001382643.1NP_001369572.1  smoothelin isoform g

      Status: REVIEWED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      pfam12510
      Location:624673
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:854965
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    9. NM_001382644.1NP_001369573.1  smoothelin isoform g

      Status: REVIEWED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      C9JYU8
      Related
      ENSP00000401341.2, ENST00000440425.6
      Conserved Domains (2) summary
      pfam12510
      Location:624673
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:854965
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    10. NM_001382645.1NP_001369574.1  smoothelin isoform h

      Status: REVIEWED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      B3KY41
    11. NM_001382646.1NP_001369575.1  smoothelin isoform i

      Status: REVIEWED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      B4E229
      Conserved Domains (1) summary
      pfam12510
      Location:570619
      Smoothelin; Smoothelin cytoskeleton protein
    12. NM_001382647.1NP_001369576.1  smoothelin isoform j

      Status: REVIEWED

      Source sequence(s)
      AC005005
      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      pfam12510
      Location:570619
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:724835
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    13. NM_001382648.1NP_001369577.1  smoothelin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC005005
      Conserved Domains (2) summary
      pfam12510
      Location:228277
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:458569
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    14. NM_006932.5NP_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
      O00569, O95769, O95937, P53814, Q8N4H8, Q8WWW1, Q8WWW2, Q9P1S8, Q9UIT1, Q9UIT2
      UniProtKB/TrEMBL
      C9JYU8
      Related
      ENSP00000328635.5, ENST00000347557.6
      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
    15. NM_134269.3NP_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/TrEMBL
      C9JYU8
      Related
      ENSP00000329532.7, ENST00000333137.12
      Conserved Domains (2) summary
      pfam12510
      Location:570619
      Smoothelin; Smoothelin cytoskeleton protein
      cd21259
      Location:800911
      CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
    16. NM_134270.3NP_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/TrEMBL
      C9JYU8
      Related
      ENSP00000351593.1, ENST00000358743.5
      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

    RNA

    1. NR_168472.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005005
    2. NR_168473.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005005
    3. NR_168474.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005005
    4. NR_168475.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005005
      Related
      ENST00000489337.5

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      31064118..31104624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028913.2XP_016884402.1  smoothelin isoform X1

      UniProtKB/TrEMBL
      A0A087X1R1, B4E229
      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_017028917.2XP_016884406.1  smoothelin isoform X5

      UniProtKB/TrEMBL
      B4E229
    3. XM_011530336.3XP_011528638.1  smoothelin isoform X6

      UniProtKB/TrEMBL
      B4E229
      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:655704
      Smoothelin; Smoothelin cytoskeleton protein
    4. XM_017028914.2XP_016884403.1  smoothelin isoform X3

      UniProtKB/TrEMBL
      C9JYU8
      Conserved Domains (2) summary
      cd00014
      Location:856960
      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:624673
      Smoothelin; Smoothelin cytoskeleton protein
    5. XM_011530338.3XP_011528640.1  smoothelin isoform X10

      UniProtKB/TrEMBL
      C9JYU8
      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:624673
      Smoothelin; Smoothelin cytoskeleton protein
    6. XM_047441466.1XP_047297422.1  smoothelin isoform X2

      UniProtKB/TrEMBL
      C9JYU8
    7. XM_047441467.1XP_047297423.1  smoothelin isoform X4

      UniProtKB/TrEMBL
      B4E229
    8. XM_047441469.1XP_047297425.1  smoothelin isoform X8

      UniProtKB/TrEMBL
      C9JYU8
    9. XM_047441468.1XP_047297424.1  smoothelin isoform X7

      UniProtKB/TrEMBL
      B4E229
    10. XM_047441470.1XP_047297426.1  smoothelin isoform X11

      UniProtKB/TrEMBL
      C9JYU8
    11. XM_017028918.2XP_016884407.1  smoothelin isoform X9

      UniProtKB/TrEMBL
      B3KUD6
    12. XM_047441471.1XP_047297427.1  smoothelin isoform X13

      UniProtKB/TrEMBL
      B3KY54
    13. XM_011530339.3XP_011528641.1  smoothelin isoform X12

      Conserved Domains (1) summary
      pfam12510
      Location:655704
      Smoothelin; Smoothelin cytoskeleton protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31527653..31568123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325853.1XP_054181828.1  smoothelin isoform X1

      UniProtKB/TrEMBL
      B4E229
    2. XM_054325857.1XP_054181832.1  smoothelin isoform X5

      UniProtKB/TrEMBL
      B4E229
    3. XM_054325858.1XP_054181833.1  smoothelin isoform X6

      UniProtKB/TrEMBL
      B4E229
    4. XM_054325855.1XP_054181830.1  smoothelin isoform X3

      UniProtKB/TrEMBL
      C9JYU8
    5. XM_054325862.1XP_054181837.1  smoothelin isoform X10

      UniProtKB/TrEMBL
      C9JYU8
    6. XM_054325854.1XP_054181829.1  smoothelin isoform X2

      UniProtKB/TrEMBL
      C9JYU8
    7. XM_054325856.1XP_054181831.1  smoothelin isoform X4

      UniProtKB/TrEMBL
      B4E229
    8. XM_054325860.1XP_054181835.1  smoothelin isoform X8

      UniProtKB/TrEMBL
      C9JYU8
    9. XM_054325859.1XP_054181834.1  smoothelin isoform X7

      UniProtKB/TrEMBL
      B4E229
    10. XM_054325863.1XP_054181838.1  smoothelin isoform X11

      UniProtKB/TrEMBL
      C9JYU8
    11. XM_054325861.1XP_054181836.1  smoothelin isoform X9

      UniProtKB/TrEMBL
      B3KUD6
    12. XM_054325866.1XP_054181841.1  smoothelin isoform X13

      UniProtKB/TrEMBL
      B3KY54
    13. XM_054325865.1XP_054181840.1  smoothelin isoform X12

    14. XM_054325864.1XP_054181839.1  smoothelin isoform X14

      UniProtKB/TrEMBL
      B3KY41