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SMTN smoothelin [ Homo sapiens (human) ]

Gene ID: 6525, updated on 6-Jan-2019

Summary

Official Symbol
SMTNprovided by HGNC
Official Full Name
smoothelinprovided by HGNC
Primary source
HGNC:HGNC:11126
See related
Ensembl:ENSG00000183963 MIM:602127
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

Genomic context

See SMTN in Genome Data Viewer
Location:
22q12.2
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 Neighboring gene RNA, 7SL, cytoplasmic 633, pseudogene Neighboring gene uncharacterized LOC105372995 Neighboring gene selenoprotein M Neighboring gene ribosomal protein S15a pseudogene 37 Neighboring gene inositol polyphosphate-5-phosphatase J

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    ENSP00000484398.1, ENST00000619644.4
    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
    ENSP00000479578.1, 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_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
    ENSP00000328635.5, 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
  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
    ENSP00000329532.7, ENST00000333137.11
    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
    ENSP00000351593.1, 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011530333.3XP_011528635.1  smoothelin isoform X2

    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:655704
    Smoothelin; Smoothelin cytoskeleton protein
  2. XM_017028913.1XP_016884402.1  smoothelin isoform X1

    UniProtKB/TrEMBL
    A0A087X1R1
    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
  3. XM_017028916.1XP_016884405.1  smoothelin isoform X5

  4. XM_017028917.1XP_016884406.1  smoothelin isoform X7

  5. XM_011530337.2XP_011528639.1  smoothelin isoform X9

    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:655704
    Smoothelin; Smoothelin cytoskeleton protein
  6. XM_011530336.2XP_011528638.1  smoothelin isoform X8

    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
  7. XM_017028918.1XP_016884407.1  smoothelin isoform X10

  8. XM_011530339.2XP_011528641.1  smoothelin isoform X14

    Conserved Domains (1) summary
    pfam12510
    Location:655704
    Smoothelin; Smoothelin cytoskeleton protein
  9. XM_017028915.1XP_016884404.1  smoothelin isoform X4

    Conserved Domains (2) summary
    cd00014
    Location:856956
    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
  10. XM_017028914.1XP_016884403.1  smoothelin isoform X3

    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
  11. XM_017028919.1XP_016884408.1  smoothelin isoform X12

  12. XM_011530338.2XP_011528640.1  smoothelin isoform X11

    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
  13. XM_006724302.1XP_006724365.1  smoothelin isoform X13

    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:513562
    Smoothelin; Smoothelin cytoskeleton protein
  14. XM_006724298.1XP_006724361.1  smoothelin isoform X6

    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:601650
    Smoothelin; Smoothelin cytoskeleton protein
  15. XM_011530341.1XP_011528643.1  smoothelin isoform X15

    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:259308
    Smoothelin; Smoothelin cytoskeleton protein

RNA

  1. XR_002958712.1 RNA Sequence

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