PLS3 plastin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLS3provided by HGNC
Official Full Name: plastin 3provided by HGNC
Primary source: HGNC:HGNC:9091
See related: Ensembl:ENSG00000102024 MIM:300131; AllianceGenome:HGNC:9091
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
Also known as: DIH5; BMND18; T-plastin
Summary: Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in thyroid (RPKM 88.8), lung (RPKM 70.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq23

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (115561174..115650861)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (113969539..114059207)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (114795501..114885181)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.
Title: PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.
PLS3 promotes papillary thyroid carcinoma progression by activating the Notch signaling pathway.
Title: PLS3 promotes papillary thyroid carcinoma progression by activating the Notch signaling pathway.
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.
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Title: Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4.
Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy.
Title: Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy.
Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.
Title: Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.
X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3.
Title: X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3.
Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis.
Title: Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis.
Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy.
Title: Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy.
PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology.
Title: PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bone mineral density quantitative trait locus 18 MedGen: C3806712 OMIM: 300910 GeneReviews: Not available	Compare labs
Hernia, anterior diaphragmatic MedGen: C1844025 OMIM: 306950 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify plastin 3 (PLS3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	env	HIV-1 gp120 upregulates the expression of T-plastin and downregulates the expression of L-plastin in T-cell lines	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify plastin 3 (PLS3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify plastin 3 (PLS3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify plastin 3 (PLS3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
retropepsin	gag-pol	A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL008905 (e-PCR)
- UniSTS:6443

RH103779 (e-PCR)
- UniSTS:98104

STS-AA004696 (e-PCR)
- UniSTS:35940

AL032606 (e-PCR)
- UniSTS:93285

RH122203 (e-PCR)
- UniSTS:134763

DXS7571E (e-PCR)
- UniSTS:154027

AL031573 (e-PCR)
- UniSTS:21174

AL008933 (e-PCR)
- UniSTS:49140

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament network formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone development	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 cytosol	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: plastin-3

Names: T fimbrin; T plastin

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.

Genomic

NG_012518.2 RefSeqGene

Range

5296..94983

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001136025.5 → NP_001129497.1 plastin-3 isoform 1

See identical proteins and their annotated locations for NP_001129497.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' non-coding exon compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AA704125, BC039049, BM979335, DC357886

Consensus CDS

CCDS14568.1

UniProtKB/Swiss-Prot

A8K579, B1AQ09, B4DGB4, B7Z6M1, P13797, Q86YI6

UniProtKB/TrEMBL

Q53GY0

Related

ENSP00000445339.2, ENST00000539310.5

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

cd21328
Location:254 → 375

CH_PLS3_rpt2; second calponin homology (CH) domain found in plastin-3

cd21331
Location:377 → 510

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

cd21334
Location:519 → 630

CH_PLS3_rpt4; fourth calponin homology (CH) domain found in plastin-3
NM_001172335.3 → NP_001165806.1 plastin-3 isoform 2

See identical proteins and their annotated locations for NP_001165806.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' non-coding exon, and uses an alternate in-frame donor splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter lacking an internal protein segment compared to isoform 1.

Source sequence(s)

AA704125, AK298530, BC039049, BM979335

UniProtKB/TrEMBL

B4DPW9, Q53GY0

Conserved Domains (2) summary

COG5069
Location:79 → 596

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

cl08302
Location:16 → 49

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 ...
NM_001282337.2 → NP_001269266.1 plastin-3 isoform 3

See identical proteins and their annotated locations for NP_001269266.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an exon in the 5' region (which results in the use of an alternate translation initiation codon) and another in-frame exon in the mid-coding region, which are not found in variant 1. The encoded isoform (3) is shorter with a distinct N-terminus, and contains a novel 9 aa protein segment compared to isoform 1.

Source sequence(s)

AA704125, AK294509, BC039049, BM979335, DC320695, M34427

Consensus CDS

CCDS78499.1

UniProtKB/TrEMBL

Q53GY0

Related

ENSP00000289290.4, ENST00000289290.7

Conserved Domains (2) summary

COG5069
Location:45 → 610

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

cd00051
Location:3 → 60

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 ...
NM_001282338.2 → NP_001269267.1 plastin-3 isoform 4

See identical proteins and their annotated locations for NP_001269267.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate 5' non-coding exon and a novel exon in the 5' region that results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AA704125, AK300575, BC039049, BM979335, DC357886

UniProtKB/TrEMBL

Q53GY0

Conserved Domains (4) summary

smart00033
Location:356 → 459

CH; Calponin homology domain

cd00014
Location:79 → 194

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 ...

pfam13499
Location:1 → 36

EF-hand_7; EF-hand domain pair

cl08302
Location:6 → 37

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 ...
NM_005032.7 → NP_005023.2 plastin-3 isoform 1

See identical proteins and their annotated locations for NP_005023.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AA704125, AK312391, BC039049, BM979335, DC320695, M34427

Consensus CDS

CCDS14568.1

UniProtKB/Swiss-Prot

A8K579, B1AQ09, B4DGB4, B7Z6M1, P13797, Q86YI6

UniProtKB/TrEMBL

Q53GY0

Related

ENSP00000348163.3, ENST00000355899.8

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

cd21328
Location:254 → 375

CH_PLS3_rpt2; second calponin homology (CH) domain found in plastin-3

cd21331
Location:377 → 510

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

cd21334
Location:519 → 630

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