SMTN smoothelin [Homo sapiens (human)] - Gene

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 22q12.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (31064118..31104624)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (31527653..31568123)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (31460104..31500610)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of Tumor Depth Invasion With Anti-Smoothelin Antibody in Equivocal Transurethral Resection of Urinary Bladder Tumor Surgical Specimens.
Title: Analysis of Tumor Depth Invasion With Anti-Smoothelin Antibody in Equivocal Transurethral Resection of Urinary Bladder Tumor Surgical Specimens.
Smoothelin is a specific marker for smooth muscle cells with contractile capacity which has not been widely studied in glomus lesions. in this study, glomic cells showed cytoplasmic positivity for smoothelin. Smoothelin expression in glomic cells indicates that they are contractile smooth muscle cells, and thus its role in routine diagnosis should be considered.
Title: Smoothelin and WT-1 expression in glomus tumors and glomuvenous malformations.
Caldesmon and smoothelin staining allows better delineation of the muscularis propria from the desmoplastic stromal reaction which provides a critical aide for proper staging of colonic adenocarcinomas.
Title: Smoothelin and caldesmon are reliable markers for distinguishing muscularis propria from desmoplasia: a critical distinction for accurate staging colorectal adenocarcinoma.
During development of advanced liver fibrosis, a subpopulation of myofibroblasts expressing smoothelin may be derived from vascular smooth muscle cells.
Title: Smoothelin, a new marker to determine the origin of liver fibrogenic cells.
lower level of expresseion in colonic inertia patients
Title: Smoothelin expression in the gastrointestinal tract: implication in colonic inertia.
The objective of the following study was to record the specificity and sensitivity of alpha5(IV) loss, smoothelin expression and PLAP expression as markers of gastrointestinal smooth muscle neoplasms
Title: A study of α5 chain of collagen IV, caldesmon, placental alkaline phosphatase and smoothelin as immunohistochemical markers of gastrointestinal smooth muscle neoplasms.
There is an association between essential hypertension and the SMTN gene.
Title: Haplotype of smoothelin gene associated with essential hypertension.
Phenotypic expression of alpha-smooth muscle actin, smooth muscle myosin heavy chain 2, and smoothelin were significantly decreased in the dissected media, whereas that of osteopontin was elevated.
Title: Association of smooth muscle cell phenotypes with extracellular matrix disorders in thoracic aortic dissection.
Smoothelin haplotype constructed using rs5997872, rs56095120, rs9621187 and rs10304 was a useful genetic marker of cerebral infarction in Japanese men.
Title: Association of the smoothelin (SMTN) gene with cerebral infarction in men: a haplotype-based case-control study.
for the Japanese women, the frequency of the C-T-T-G haplotype (established by rs5997872, rs56095120, rs9621187, and rs10304) was significantly higher in the myocardial infarction group than in the control group
Title: A haplotype of the SMTN gene associated with myocardial infarction in Japanese women.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D22S600 (e-PCR)
- UniSTS:55075

SHGC-57277 (e-PCR)
- UniSTS:94500

D11S2560 (e-PCR)
- UniSTS:37928

STS-W72233 (e-PCR)
- UniSTS:15468

RH65333 (e-PCR)
- UniSTS:51825

D15S1477 (e-PCR)
- UniSTS:474482

Homology

Homologs of the SMTN gene: The SMTN gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 458 organisms have orthologs with human gene SMTN
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	TAS Traceable Author Statement more info	PubMed
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
part_of filamentous actin	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: smoothelin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_029838.2 RefSeqGene

Range

22202..45508

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001207017.1 → NP_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, ENST00000619644.5

Conserved Domains (2) summary

cd00014
Location:887 → 991

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:655 → 704

Smoothelin; Smoothelin cytoskeleton protein
NM_001207018.2 → NP_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:858 → 958

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:626 → 675

Smoothelin; Smoothelin cytoskeleton protein
NM_001382638.1 → NP_001369567.1 smoothelin isoform b

Status: REVIEWED

Source sequence(s)

AC005005

Consensus CDS

CCDS13888.1

Conserved Domains (2) summary

pfam12510
Location:570 → 619

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:800 → 911

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382639.1 → NP_001369568.1 smoothelin isoform b

Status: REVIEWED

Source sequence(s)

AC005005

Consensus CDS

CCDS13888.1

Conserved Domains (2) summary

pfam12510
Location:570 → 619

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:800 → 911

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382640.1 → NP_001369569.1 smoothelin isoform b

Status: REVIEWED

Source sequence(s)

AC005005

Consensus CDS

CCDS13888.1

Conserved Domains (2) summary

pfam12510
Location:570 → 619

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:800 → 911

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382641.1 → NP_001369570.1 smoothelin isoform b

Status: REVIEWED

Source sequence(s)

AC005005

Consensus CDS

CCDS13888.1

Conserved Domains (2) summary

pfam12510
Location:570 → 619

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:800 → 911

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382642.1 → NP_001369571.1 smoothelin isoform f

Status: REVIEWED

Source sequence(s)

AC005005

Conserved Domains (2) summary

pfam12510
Location:664 → 713

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:894 → 1005

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382643.1 → NP_001369572.1 smoothelin isoform g

Status: REVIEWED

Source sequence(s)

AC005005

Conserved Domains (2) summary

pfam12510
Location:624 → 673

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:854 → 965

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382644.1 → NP_001369573.1 smoothelin isoform g

Status: REVIEWED

Source sequence(s)

AC005005

Related

ENSP00000401341.2, ENST00000440425.6

Conserved Domains (2) summary

pfam12510
Location:624 → 673

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:854 → 965

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382645.1 → NP_001369574.1 smoothelin isoform h

Status: REVIEWED

Source sequence(s)

AC005005
NM_001382646.1 → NP_001369575.1 smoothelin isoform i

Status: REVIEWED

Source sequence(s)

AC005005

Conserved Domains (1) summary

pfam12510
Location:570 → 619

Smoothelin; Smoothelin cytoskeleton protein
NM_001382647.1 → NP_001369576.1 smoothelin isoform j

Status: REVIEWED

Source sequence(s)

AC005005

Conserved Domains (2) summary

pfam12510
Location:570 → 619

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:724 → 835

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_001382648.1 → NP_001369577.1 smoothelin isoform k

Status: REVIEWED

Source sequence(s)

AC005005

Conserved Domains (2) summary

pfam12510
Location:228 → 277

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:458 → 569

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_006932.5 → NP_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, Q9UIT2

Related

ENSP00000328635.5, ENST00000347557.6

Conserved Domains (2) summary

cd00014
Location:802 → 906

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 → 619

Smoothelin; Smoothelin cytoskeleton protein
NM_134269.3 → NP_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, ENST00000333137.12

Conserved Domains (2) summary

pfam12510
Location:570 → 619

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:800 → 911

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
NM_134270.3 → NP_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:802 → 929

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 → 619

Smoothelin; Smoothelin cytoskeleton protein

RNA

NR_168472.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005005
NR_168473.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005005
NR_168474.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005005
NR_168475.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC005005

Related

ENST00000489337.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

31064118..31104624

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017028913.2 → XP_016884402.1 smoothelin isoform X1

UniProtKB/TrEMBL

A0A087X1R1

Conserved Domains (2) summary

cd00014
Location:887 → 991

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:655 → 704

Smoothelin; Smoothelin cytoskeleton protein
XM_017028917.2 → XP_016884406.1 smoothelin isoform X5
XM_011530336.3 → XP_011528638.1 smoothelin isoform X6

Conserved Domains (2) summary

cd00014
Location:811 → 915

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:655 → 704

Smoothelin; Smoothelin cytoskeleton protein
XM_017028914.2 → XP_016884403.1 smoothelin isoform X3

Conserved Domains (2) summary

cd00014
Location:856 → 960

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:624 → 673

Smoothelin; Smoothelin cytoskeleton protein
XM_011530338.3 → XP_011528640.1 smoothelin isoform X10

Conserved Domains (2) summary

cd00014
Location:780 → 884

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:624 → 673

Smoothelin; Smoothelin cytoskeleton protein
XM_047441466.1 → XP_047297422.1 smoothelin isoform X2
XM_047441467.1 → XP_047297423.1 smoothelin isoform X4
XM_047441469.1 → XP_047297425.1 smoothelin isoform X8
XM_047441468.1 → XP_047297424.1 smoothelin isoform X7
XM_047441470.1 → XP_047297426.1 smoothelin isoform X11
XM_017028918.2 → XP_016884407.1 smoothelin isoform X9
XM_047441471.1 → XP_047297427.1 smoothelin isoform X13
XM_011530339.3 → XP_011528641.1 smoothelin isoform X12

Conserved Domains (1) summary

pfam12510
Location:655 → 704

Smoothelin; Smoothelin cytoskeleton protein