Smtn smoothelin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smtnprovided by MGI
Official Full Name: smoothelinprovided by MGI
Primary source: MGI:MGI:1354727
See related: Ensembl:ENSMUSG00000020439 AllianceGenome:MGI:1354727
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: smsmo
Summary: Predicted to enable actin binding activity. Acts upstream of or within negative regulation of systemic arterial blood pressure and positive regulation of cardiac muscle contraction. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be part of filamentous actin. Predicted to be active in microtubule organizing center. Is expressed in alimentary system; bladder wall; limb; and musculature. Orthologous to human SMTN (smoothelin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in bladder adult (RPKM 131.6), colon adult (RPKM 44.3) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 2.47 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (3467522..3489337, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (3517522..3539292, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

smoothelins as key determinants of arterial smooth muscle contractility and cardiovascular performance
Title: Smoothelin-B deficiency results in reduced arterial contractility, hypertension, and cardiac hypertrophy in mice.
Smoothelin-A is essential for functional contractility of intestinal smooth muscle.
Title: Smoothelin-a is essential for functional intestinal smooth muscle contractility in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of systemic arterial blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: smoothelin

Names: smoothelin A

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001159284.2 → NP_001152756.1 smoothelin isoform b

See identical proteins and their annotated locations for NP_001152756.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).

Source sequence(s)

AL713875

Consensus CDS

CCDS24366.1

UniProtKB/TrEMBL

D3Z3Q3

Related

ENSMUSP00000133155.2, ENSMUST00000170588.8

Conserved Domains (2) summary

cd00014
Location:808 → 908

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:568 → 617

Smoothelin; Smoothelin cytoskeleton protein
NM_001284427.2 → NP_001271356.1 smoothelin isoform a

See identical proteins and their annotated locations for NP_001271356.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) encodes the longest isoform (a).

Source sequence(s)

AL713875

Consensus CDS

CCDS70129.1

UniProtKB/Swiss-Prot

Q3TCV2, Q6NSW1, Q8CD93, Q921U8, Q9JHG8, Q9JLU7, Q9R0D0, Q9R253, Q9Z0Q2

UniProtKB/TrEMBL

D3Z3Q3

Related

ENSMUSP00000074621.4, ENSMUST00000075118.10

Conserved Domains (3) summary

PHA03247
Location:107 → 454

PHA03247; large tegument protein UL36; Provisional

cd00014
Location:808 → 912

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 → 617

Smoothelin; Smoothelin cytoskeleton protein
NM_001284428.2 → NP_001271357.1 smoothelin isoform b

See identical proteins and their annotated locations for NP_001271357.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).

Source sequence(s)

AL713875

Consensus CDS

CCDS24366.1

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (2) summary

cd00014
Location:808 → 908

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:568 → 617

Smoothelin; Smoothelin cytoskeleton protein
NM_001284429.1 → NP_001271358.1 smoothelin isoform c

See identical proteins and their annotated locations for NP_001271358.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains an alternate exon in the 5' end and differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (c) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AK030932, AK085412, AL713875, AW490128

UniProtKB/Swiss-Prot

Q921U8

Related

ENSMUST00000154861.8

Conserved Domains (2) summary

cd00014
Location:559 → 659

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:319 → 368

Smoothelin; Smoothelin cytoskeleton protein
NM_001425501.1 → NP_001412430.1 smoothelin isoform b

Status: VALIDATED

Source sequence(s)

AL713875
NM_001425502.1 → NP_001412431.1 smoothelin isoform d

Status: VALIDATED

Source sequence(s)

AL713875

UniProtKB/TrEMBL

A0AAQ4VMU7

Related

ENSMUSP00000160000.1, ENSMUST00000249902.1
NM_001425503.1 → NP_001412432.1 smoothelin isoform e

Status: VALIDATED

Source sequence(s)

AL713875
NM_001425504.1 → NP_001412433.1 smoothelin isoform f

Status: VALIDATED

Source sequence(s)

AL713875

UniProtKB/TrEMBL

D3YVS1, Q9D7A0

Related

ENSMUSP00000020718.6, ENSMUST00000020718.11
NM_013870.4 → NP_038898.2 smoothelin isoform b

See identical proteins and their annotated locations for NP_038898.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 1, 2, and 4 all encode the same isoform (b).

Source sequence(s)

AL713875

Consensus CDS

CCDS24366.1

UniProtKB/TrEMBL

D3Z3Q3

Related

ENSMUSP00000020721.9, ENSMUST00000020721.15

Conserved Domains (2) summary

cd00014
Location:808 → 908

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:568 → 617

Smoothelin; Smoothelin cytoskeleton protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

3467522..3489337 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156750.1 → XP_036012643.1 smoothelin isoform X9

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:107 → 454

PHA03247; large tegument protein UL36; Provisional

pfam12510
Location:570 → 617

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:730 → 841

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
XM_017314586.3 → XP_017170075.1 smoothelin isoform X4

UniProtKB/Swiss-Prot

Q3TCV2, Q6NSW1, Q8CD93, Q921U8, Q9JHG8, Q9JLU7, Q9R0D0, Q9R253, Q9Z0Q2

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:107 → 454

PHA03247; large tegument protein UL36; Provisional

cd00014
Location:808 → 912

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 → 617

Smoothelin; Smoothelin cytoskeleton protein
XM_006514724.4 → XP_006514787.1 smoothelin isoform X8

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:107 → 454

PHA03247; large tegument protein UL36; Provisional

cd00014
Location:839 → 943

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:601 → 648

Smoothelin; Smoothelin cytoskeleton protein
XM_036156747.1 → XP_036012640.1 smoothelin isoform X5

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:135 → 482

PHA03247; large tegument protein UL36; Provisional

pfam12510
Location:598 → 645

Smoothelin; Smoothelin cytoskeleton protein

cd21258
Location:758 → 868

CH_SMTNA; calponin homology (CH) domain found in smoothelin-A and similar proteins
XM_036156748.1 → XP_036012641.1 smoothelin isoform X6

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:135 → 482

PHA03247; large tegument protein UL36; Provisional

pfam12510
Location:598 → 645

Smoothelin; Smoothelin cytoskeleton protein

cd21259
Location:758 → 869

CH_SMTNB; calponin homology (CH) domain found in smoothelin-B and similar proteins
XM_030246062.1 → XP_030101922.1 smoothelin isoform X1

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:135 → 482

PHA03247; large tegument protein UL36; Provisional

cd00014
Location:836 → 940

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:598 → 645

Smoothelin; Smoothelin cytoskeleton protein
XM_030246063.1 → XP_030101923.1 smoothelin isoform X2

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:135 → 482

PHA03247; large tegument protein UL36; Provisional

pfam00307
Location:836 → 936

CH; Calponin homology (CH) domain

pfam12510
Location:598 → 645

Smoothelin; Smoothelin cytoskeleton protein
XM_030246064.1 → XP_030101924.1 smoothelin isoform X3

UniProtKB/TrEMBL

D3Z3Q3

Conserved Domains (3) summary

PHA03247
Location:135 → 482

PHA03247; large tegument protein UL36; Provisional

cd00014
Location:836 → 910

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:598 → 645

Smoothelin; Smoothelin cytoskeleton protein
XM_036156749.1 → XP_036012642.1 smoothelin isoform X7

Conserved Domains (3) summary

pfam12510
Location:171 → 218

Smoothelin; Smoothelin cytoskeleton protein

cl00030
Location:407 → 489

CH_SF; calponin homology (CH) domain superfamily

cl21454
Location:28 → 121

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins