Pls3 plastin 3 (T-isoform) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pls3provided by MGI
Official Full Name: plastin 3 (T-isoform)provided by MGI
Primary source: MGI:MGI:104807
See related: Ensembl:ENSMUSG00000016382 AllianceGenome:MGI:104807
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
Summary: A structural constituent of presynaptic actin cytoskeleton. Involved in regulation of synaptic vesicle cycle. Located in cytoplasm. Is active in neuromuscular junction. Is expressed in several structures, including female reproductive system; forebrain; gut; lung; and yolk sac. Used to study congenital diaphragmatic hernia and osteoporosis. Human ortholog(s) of this gene implicated in congenital diaphragmatic hernia. Orthologous to human PLS3 (plastin 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in genital fat pad adult (RPKM 39.2), bladder adult (RPKM 31.7) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 38.3 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (74829259..74918788, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (75785653..75875182, complement)

Chromosome X - NC_000086.8 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?

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Title: PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Mice lacking plastin-3 display a specific defect of cortical bone acquisition.
Title: Mice lacking plastin-3 display a specific defect of cortical bone acquisition.
PLS3 coadministration improves the phenotype beyond the antisense oligonucleotides, demonstrating the potential utility of combinatorial therapeutics in spinal muscular atrophy that target SMN-independent and SMN-dependent pathways.
Title: Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy.
Regulation of osteoclastogenesis and bone remodeling via the PLS3-NKRF-NFkappaB-NFATC1 axis unveils a novel possibility to counteract osteoporosis.
Title: Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
Of the six biomarkers, only COMP and DPP4 showed high and SPP1 moderate correlation with the spinal muscular atrophy phenotype. PLS3 overexpression neither influenced the SMN level nor the six biomarkers, supporting the hypothesis that PLS3 acts as an independent protective modifier.
Title: Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.
Data indicate there are 6 mutations in Plastin-3 (PLS3) responsible for X-linked osteoporosis, and the mutation c.759_760insAAT (p.Ala253_Leu254insAsn) is located in exon 8.
Title: Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X-linked osteoporosis.
Depletion of Pls3 transcripts in mouse embryos caused basement membrane and polarity defects in the epidermis which were secondary to the disruption of the basement membrane but had little effect on cell adhesion and differentiation.
Title: T-plastin is essential for basement membrane assembly and epidermal morphogenesis.

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Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:224374

RH135864 (e-PCR)
- UniSTS:209862

RH125482 (e-PCR)
- UniSTS:162301

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of presynaptic actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of presynaptic actin cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament bundle assembly	IEA Inferred from Electronic Annotation more info
involved_in actin filament network formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone development	ISO Inferred from Sequence Orthology more info
involved_in presynaptic actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin filament bundle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in stereocilium	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: plastin-3

Names: T-fimbrin; T-plastin; plastin 3, T

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_001166453.1 → NP_001159925.1 plastin-3 isoform 1

See identical proteins and their annotated locations for NP_001159925.1

Status: VALIDATED

Source sequence(s)

AK146455, AK160501, BB872046, BY619251

Consensus CDS

CCDS30243.1

UniProtKB/Swiss-Prot

B1AX56, Q3TUZ5, Q99K51

UniProtKB/TrEMBL

A0A1C7CYV0

Related

ENSMUSP00000109693.4, ENSMUST00000114059.10

Conserved Domains (4) summary

smart00033
Location:401 → 504

CH; Calponin homology domain

cd00014
Location:124 → 239

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 ...

cd00051
Location:16 → 82

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:17 → 81

EF-hand_7; EF-hand domain pair
NM_001166454.2 → NP_001159926.1 plastin-3 isoform 1

See identical proteins and their annotated locations for NP_001159926.1

Status: VALIDATED

Source sequence(s)

AK146087, AK146455, BY020402, BY619251

Consensus CDS

CCDS30243.1

UniProtKB/Swiss-Prot

B1AX56, Q3TUZ5, Q99K51

UniProtKB/TrEMBL

A0A1C7CYV0

Related

ENSMUSP00000109691.2, ENSMUST00000114057.8

Conserved Domains (4) summary

smart00033
Location:401 → 504

CH; Calponin homology domain

cd00014
Location:124 → 239

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 ...

cd00051
Location:16 → 82

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:17 → 81

EF-hand_7; EF-hand domain pair
NM_001346519.1 → NP_001333448.1 plastin-3 isoform 2

Status: VALIDATED

Source sequence(s)

AL805920

Consensus CDS

CCDS85786.1

UniProtKB/TrEMBL

A0A1C7CYV0, B1AX58

Conserved Domains (5) summary

cd00051
Location:16 → 82

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd21292
Location:101 → 245

CH_PLS_rpt1; first calponin homology (CH) domain found in the plastin family

cd21331
Location:386 → 519

CH_PLS3_rpt3; third calponin homology (CH) domain found in plastin-3

cd21334
Location:528 → 639

CH_PLS3_rpt4; fourth calponin homology (CH) domain found in plastin-3

cl00030
Location:254 → 384

CH_SF; calponin homology (CH) domain superfamily
NM_001346520.1 → NP_001333449.1 plastin-3 isoform 2

Status: VALIDATED

Source sequence(s)

AL805920

Consensus CDS

CCDS85786.1

UniProtKB/TrEMBL

A0A1C7CYV0, B1AX58

Conserved Domains (5) summary

cd00051
Location:16 → 82

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd21292
Location:101 → 245

CH_PLS_rpt1; first calponin homology (CH) domain found in the plastin family

cd21331
Location:386 → 519

CH_PLS3_rpt3; third calponin homology (CH) domain found in plastin-3

cd21334
Location:528 → 639

CH_PLS3_rpt4; fourth calponin homology (CH) domain found in plastin-3

cl00030
Location:254 → 384

CH_SF; calponin homology (CH) domain superfamily
NM_145629.2 → NP_663604.1 plastin-3 isoform 1

See identical proteins and their annotated locations for NP_663604.1

Status: VALIDATED

Source sequence(s)

AK146455, AK160501, BY071032, BY619251

Consensus CDS

CCDS30243.1

UniProtKB/Swiss-Prot

B1AX56, Q3TUZ5, Q99K51

UniProtKB/TrEMBL

A0A1C7CYV0

Related

ENSMUSP00000033547.8, ENSMUST00000033547.14

Conserved Domains (4) summary

smart00033
Location:401 → 504

CH; Calponin homology domain

cd00014
Location:124 → 239

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 ...

cd00051
Location:16 → 82

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:17 → 81

EF-hand_7; EF-hand domain pair

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_000086.8 Reference GRCm39 C57BL/6J

Range

74829259..74918788 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161764.1 → XP_036017657.1 plastin-3 isoform X2

UniProtKB/TrEMBL

A0A1C7CYV0, B1AX58

Related

ENSMUSP00000109692.2, ENSMUST00000114058.8

Conserved Domains (5) summary

cd00051
Location:16 → 82

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd21292
Location:101 → 245

CH_PLS_rpt1; first calponin homology (CH) domain found in the plastin family

cd21331
Location:386 → 519

CH_PLS3_rpt3; third calponin homology (CH) domain found in plastin-3

cd21334
Location:528 → 639

CH_PLS3_rpt4; fourth calponin homology (CH) domain found in plastin-3

cl00030
Location:254 → 384

CH_SF; calponin homology (CH) domain superfamily
XM_006527731.4 → XP_006527794.1 plastin-3 isoform X1

UniProtKB/TrEMBL

Q3UJG9

Conserved Domains (2) summary

COG5069
Location:110 → 636

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00051
Location:20 → 86

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_006527733.4 → XP_006527796.1 plastin-3 isoform X2

See identical proteins and their annotated locations for XP_006527796.1

UniProtKB/TrEMBL

A0A1C7CYV0, B1AX58

Conserved Domains (5) summary

cd00051
Location:16 → 82

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd21292
Location:101 → 245

CH_PLS_rpt1; first calponin homology (CH) domain found in the plastin family

cd21331
Location:386 → 519

CH_PLS3_rpt3; third calponin homology (CH) domain found in plastin-3

cd21334
Location:528 → 639

CH_PLS3_rpt4; fourth calponin homology (CH) domain found in plastin-3

cl00030
Location:254 → 384

CH_SF; calponin homology (CH) domain superfamily