SMTN - smoothelin Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6525

About SMTN

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,064,118-31,104,624 (from NCBI)

This gene has 24 transcripts (splice variants) and 125 orthologues. Broad expression in prostate (RPKM 39.0), endometrium (RPKM 30.0) and 20 other tissues.

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]

SMTN Products (16)

mRNA Protein Name
NM_001207017.1 NP_001193946.1 smoothelin isoform d
NM_001207018.2 NP_001193947.1 smoothelin isoform e
NM_001382638.1 NP_001369567.1 smoothelin isoform b
NM_001382639.1 NP_001369568.1 smoothelin isoform b
NM_001382640.1 NP_001369569.1 smoothelin isoform b
NM_001382641.1 NP_001369570.1 smoothelin isoform b
NM_001382642.1 NP_001369571.1 smoothelin isoform f
NM_001382643.1 NP_001369572.1 smoothelin isoform g
NM_001382644.1 NP_001369573.1 smoothelin isoform g
NM_001382645.1 NP_001369574.1 smoothelin isoform h
NM_001382646.1 NP_001369575.1 smoothelin isoform i
NM_001382647.1 NP_001369576.1 smoothelin isoform j
NM_001382648.1 NP_001369577.1 smoothelin isoform k
NM_006932.5 NP_008863.3 smoothelin isoform c
NM_134269.3 NP_599031.1 smoothelin isoform b
NM_134270.3 NP_599032.2 smoothelin isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMTN Protein Structure

Smoothelin

Smoothelin: Smoothelin cytoskeleton protein (1 - 41)

Smoothelin

Smoothelin: Smoothelin cytoskeleton protein (69 - 122)

Smoothelin

Smoothelin: Smoothelin cytoskeleton protein (567 - 619)

CH

CH: Calponin homology (CH) domain (803 - 905)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 917 a.a.
Protein Preferred Names Protein Names

smoothelin

SMTN Antibodies

Cat. No. Product Name Application Reactivity
HY-P81450 Smoothelin Antibody (YA1195) IHC-P Human
HY-P81450A Smoothelin Antibody (YA1195)(PBS only) IHC-P Human
HY-P85870 Smoothelin Antibody (YA5562) IHC-P, WB, ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Atrophy Of Prostate
Glomangiomyoma
Malignant Mesenchymoma
  • Malignant Mesenchymal Tumor

  • Mesenchymoma, Malignant

  • Sarcoma

  • Rat Malignant Renal Mesenchymal Tumor

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Berdon Syndrome

  • MMIHS

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Megacystis, Microcolon, Hypoperistalsis Syndrome

  • Visceral Myopathy

  • Mmih Syndrome

  • Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

  • MMIHS1

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

  • Mmhs

Spondylometaphyseal Dysplasia, Sedaghatian Type
  • SMDS

  • Sedaghatian Chondrodysplasia

  • Spondylometaphyseal Dysplasia Sedaghatian Type

  • Congenital Lethal Metaphyseal Chondrodysplasia

  • Metaphyseal Chondrodysplasia, Congenital Lethal

  • Lethal Metaphyseal Dysplasia

Neurogenic Bladder
  • Neurogenic Dysfunction Of The Urinary Bladder

  • Neurogenic Urinary Bladder Disorder

  • Neuropathic Bladder

  • Bladder Neurogenic

  • Urinary Bladder, Neurogenic

  • Neurogenic Urinary Bladder

Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

Aortic Aneurysm, Familial Thoracic 1
  • Thoracic Aortic Aneurysm

  • Annuloaortic Ectasia

  • Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Familial Aortic Dissection

  • Familial Taad

  • Familial Thoracic Aortic Aneurysm

  • Congenital Aneurysm Of Ascending Aorta

  • Familial Aortic Aneurysm

  • Familial Thoracic Aortic Aneurysm And Dissection

  • Aortic Aneurysm, Thoracic

  • AAT1

  • Faa1

  • Aortic Dissection, Familial

  • Aortic Aneurysm, Familial Thoracic

  • Aneurysm, Thoracic Aortic

  • Faa

  • Ftaad

  • Taa

  • Taad

  • Cystic Medial Necrosis Of Aorta

  • Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

  • Aortic Aneurysm Thoracic

  • Familial Aortic Aneurysms

  • Aneurysm, Aortic, Thoracic, Familial, Type 1

  • Aneurysm Of Thoracic Aorta

  • Intrathoracic Aneurysm

  • Thoracic Aorta Aneurysm

  • Thoracic Aortic Aneurysm Without Rupture

  • Thoracic Aneurysm

  • Thorax Arterial Aneurysm

  • Thoracic Artery Aneurysm

  • Thoracic Arterial Aneurysm

  • Thorax Aneurysm

  • Thorax Aortic Aneurysm

  • Dissection Of Thoracic Aorta

Lipoprotein Quantitative Trait Locus
  • Coronary Artery Disease

  • Coronary Artery Anomaly

  • Coronary Artery Disease, Susceptibility To

  • Myocardial Ischemia

  • Congenital Anomaly Of Coronary Artery

  • Coronary Arteriosclerosis

  • Coronary Disease

  • Coronary Heart Disease

  • Coronary Artery Disorder

  • LPAQTL

  • Lpa Deficiency, Congenital

  • Coronary Artery Abnormality

  • Coronary Artery Anomaly, Congenital

  • Chd

  • Coronary Syndrome

  • Congenital Malformations Of Coronary Vessels

  • Malformation Of Coronary Vessels

  • Congenital Coronary Artery Anomaly

  • Congenital Coronary Artery Deformity

  • Congenital Coronary Artery Disorder

  • Abnormal Coronary Artery

  • Congenital Coronary Artery Malposition

  • Congenital Coronary Disease

  • Congenital Anomaly Of Coronary Arteries

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SMTN VGNC VGNC:46575
Mus musculus SMTN MGD MGI:1354727
Felis catus SMTN VGNC VGNC:65506
Macaca mulatta SMTN VGNC VGNC:77661
Bos taurus SMTN VGNC VGNC:35036
Rattus norvegicus SMTN RGD RGD:1310216
Others SMTN NCBI