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 iso... See more...

Aliases for PLS3 Gene

Aliases for PLS3 Gene

  • Plastin 3 2 3 5
  • T-Plastin 2 3 4
  • Plastin-3 3 4
  • Plastin 3 (T Isoform) 2
  • T Fimbrin 3
  • T Plastin 3
  • BMND18 3
  • PLS3 5

External Ids for PLS3 Gene

Previous GeneCards Identifiers for PLS3 Gene

  • GC0XP109814
  • GC0XP111920
  • GC0XP112831
  • GC0XP113559
  • GC0XP114618
  • GC0XP114795
  • GC0XP104379

Summaries for PLS3 Gene

Entrez Gene Summary for PLS3 Gene

  • 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]

GeneCards Summary for PLS3 Gene

PLS3 (Plastin 3) is a Protein Coding gene. Diseases associated with PLS3 include Bone Mineral Density Quantitative Trait Locus 18 and Sezary's Disease. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is LCP1.

UniProtKB/Swiss-Prot Summary for PLS3 Gene

  • Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development.

Gene Wiki entry for PLS3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLS3 Gene

Genomics for PLS3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ115559 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 615 +1.2 1211 6.4 CREB1 TEAD4 PRDM10 ZNF629 ZNF692 FOXA1 PRDM1 ZIC2 RBFOX2 PKNOX1 PLS3 PLS3-AS1 API5P1 LRCH2 AGTR2
GH0XJ115591 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.3 +32.4 32361 4.9 SCRT2 TCF7L2 SCRT1 ZNF189 ZNF768 ZZZ3 PRDM6 JUN POLR2A TRIM28 PLS3 lnc-LRCH2-3 PLS3-AS1 AGTR2
GH0XJ115539 Enhancer 0.3 Ensembl 12 -21.2 -21173 1.2 JUN piR-39781-043 piR-51999-007 piR-56133-246 piR-50399-033 PLS3 PLS3-AS1 LOC105373314
GH0XJ115571 Enhancer 0.2 Ensembl 15 +10.7 10727 1.4 PLS3 PLS3-AS1 lnc-LRCH2-3 AGTR2
GH0XJ115531 Enhancer 0.3 Ensembl 4.4 -28.8 -28773 2 POLR2A JUN PLS3 piR-56133-246 piR-59928-165 PLS3-AS1 LOC105373314
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLS3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLS3

Top Transcription factor binding sites by QIAGEN in the PLS3 gene promoter:
  • AREB6
  • Evi-1
  • FOXO1
  • FOXO1a
  • GATA-1
  • GATA-2
  • GATA-3
  • HOXA5
  • Nkx2-5
  • RSRFC4

Genomic Locations for PLS3 Gene

Genomic Locations for PLS3 Gene
chrX:115,561,174-115,650,861
(GRCh38/hg38)
Size:
89,688 bases
Orientation:
Plus strand
chrX:114,795,177-114,885,181
(GRCh37/hg19)
Size:
90,005 bases
Orientation:
Plus strand

Genomic View for PLS3 Gene

Genes around PLS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLS3 Gene

Proteins for PLS3 Gene

  • Protein details for PLS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13797-PLST_HUMAN
    Recommended name:
    Plastin-3
    Protein Accession:
    P13797
    Secondary Accessions:
    • A8K579
    • B1AQ09
    • B4DGB4
    • B7Z6M1
    • Q86YI6

    Protein attributes for PLS3 Gene

    Size:
    630 amino acids
    Molecular mass:
    70811 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for PLS3 Gene

    Alternative splice isoforms for PLS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLS3 Gene

Post-translational modifications for PLS3 Gene

  • Ubiquitination at Lys59, Lys52, Lys100, Lys300, Lys382, and Lys437
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for PLS3

No data available for DME Specific Peptides for PLS3 Gene

Domains & Families for PLS3 Gene

Gene Families for PLS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PLS3 Gene

InterPro:
Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
ProtoNet:

Suggested Antigen Peptide Sequences for PLS3 Gene

GenScript: Design optimal peptide antigens:
  • PLS3 protein (A7E2S2_HUMAN)
  • cDNA, FLJ92722, Homo sapiens plastin 3 (T isoform) (PLS3), mRNA (A8K579_HUMAN)
  • cDNA FLJ59681, highly similar to Plastin-3 (B4DGB4_HUMAN)
  • cDNA FLJ50527, highly similar to Plastin-3 (B4DI60_HUMAN)
  • cDNA FLJ50683, highly similar to Plastin-3 (B7Z6M1_HUMAN)
genes like me logo Genes that share domains with PLS3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLS3 Gene

Function for PLS3 Gene

Molecular function for PLS3 Gene

UniProtKB/Swiss-Prot Function:
Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development.

Phenotypes From GWAS Catalog for PLS3 Gene

Gene Ontology (GO) - Molecular Function for PLS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051015 actin filament binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with PLS3: view
genes like me logo Genes that share phenotypes with PLS3: view

Human Phenotype Ontology for PLS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLS3 Gene

MGI Knock Outs for PLS3:
  • Pls3 Pls3<tm1a(EUCOMM)Wtsi>
  • Pls3 Pls3<tm1d(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLS3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLS3 Gene

Localization for PLS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLS3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLS3 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 3
mitochondrion 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA --
GO:0005884 actin filament IBA 21873635
GO:0005886 plasma membrane IDA --
GO:0032432 actin filament bundle IBA 21873635
genes like me logo Genes that share ontologies with PLS3: view

Pathways & Interactions for PLS3 Gene

PathCards logo

SuperPathways for PLS3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051017 actin filament bundle assembly IEA,IBA 21873635
GO:0051639 actin filament network formation IBA 21873635
GO:0060348 bone development IMP 24088043
genes like me logo Genes that share ontologies with PLS3: view

No data available for Pathways by source and SIGNOR curated interactions for PLS3 Gene

Drugs & Compounds for PLS3 Gene

No Compound Related Data Available

Transcripts for PLS3 Gene

mRNA/cDNA for PLS3 Gene

5 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLS3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLS3 Gene

No ASD Table

Relevant External Links for PLS3 Gene

GeneLoc Exon Structure for
PLS3

Expression for PLS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLS3 Gene

This gene is overexpressed in Artery - Aorta (x6.3) and Artery - Tibial (x5.0).

Protein differential expression in normal tissues from HIPED for PLS3 Gene

This gene is overexpressed in Amniocyte (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLS3 Gene



Protein tissue co-expression partners for PLS3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLS3

SOURCE GeneReport for Unigene cluster for PLS3 Gene:

Hs.496622

mRNA Expression by UniProt/SwissProt for PLS3 Gene:

P13797-PLST_HUMAN
Tissue specificity: Expressed in a variety of organs, including muscle, brain, uterus and esophagus.

Evidence on tissue expression from TISSUES for PLS3 Gene

  • Nervous system(5)
  • Skin(4.8)
  • Kidney(4.7)
  • Liver(4.5)
  • Lung(4)
  • Intestine(2.9)
  • Blood(2.7)
  • Spleen(2.7)
  • Muscle(2.6)
  • Heart(2.5)
  • Thyroid gland(2.4)
  • Pancreas(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLS3 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PLS3: view

Orthologs for PLS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLS3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLS3 30 31
  • 99.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLS3 31
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PLS3 30 31
  • 94.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLS3 30 31
  • 93.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pls3 30
  • 91.22 (n)
Mouse
(Mus musculus)
Mammalia Pls3 30 17 31
  • 90.79 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLS3 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLS3 30 31
  • 82.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLS3 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pls3 30
  • 79.09 (n)
Str.17623 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68681 30
Zebrafish
(Danio rerio)
Actinopterygii pls3 30 31
  • 74.85 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Fim 31 32
  • 52 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y104H12BR.1 32
  • 59 (a)
plst-1 31
  • 52 (a)
ManyToMany
Y104H12BL.1 32
  • 51 (a)
Y73B3B.1 31 32
  • 35 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC6 31 33
  • 38 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G48460 30
  • 53.58 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0514600 30
  • 50.69 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8022 31
  • 49 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4644 30
Species where no ortholog for PLS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PLS3 Gene

ENSEMBL:
Gene Tree for PLS3 (if available)
TreeFam:
Gene Tree for PLS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLS3: view image

Paralogs for PLS3 Gene

Paralogs for PLS3 Gene

(2) SIMAP similar genes for PLS3 Gene using alignment to 9 proteins:

  • PLST_HUMAN
  • A7E2S2_HUMAN
  • B4DGB4_HUMAN
  • B4DI60_HUMAN
  • B7Z6M1_HUMAN
  • F2Z2Z9_HUMAN
  • F8W8D8_HUMAN
  • H7C4N2_HUMAN
  • U3KQI3_HUMAN
genes like me logo Genes that share paralogs with PLS3: view

Variants for PLS3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PLS3 Gene

PLST_HUMAN-P13797
Genetic variations in PLS3 define the bone mineral density quantitative trait locus 18 (BMND18) [MIM:300910]. Variance in bone mineral density influences bone mass, contributes to size determination in the general population, and is a susceptibility factor for osteoporotic fractures.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLS3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
668769 Benign: not provided 115,645,748(+) C/CA INTRON_VARIANT
668770 Benign: not provided 115,645,753(+) C/A INTRON_VARIANT
668874 Benign: not provided 115,635,176(+) G/A INTRON_VARIANT
671538 Benign: not provided 115,622,591(+) C/T INTRON_VARIANT
674932 Benign: not provided 115,640,193(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PLS3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLS3 Gene

Variant ID Type Subtype PubMed ID
esv2666518 CNV deletion 23128226
esv33994 CNV gain+loss 17666407
esv3559212 CNV deletion 23714750
esv3577051 CNV gain 25503493

Variation tolerance for PLS3 Gene

Residual Variation Intolerance Score: 13.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 13.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLS3 Gene

Human Gene Mutation Database (HGMD)
PLS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLS3

SNP Genotyping and Copy Number Assay Products

Disorders for PLS3 Gene

MalaCards: The human disease database

(17) MalaCards diseases for PLS3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bone mineral density quantitative trait locus 18
  • bmnd18
sezary's disease
  • sezary disease
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
primary cutaneous t-cell lymphoma
spinal muscular atrophy
  • progressive muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search PLS3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLST_HUMAN
  • Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269 PubMed:24088043}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for PLS3

genes like me logo Genes that share disorders with PLS3: view

No data available for Genatlas for PLS3 Gene

Publications for PLS3 Gene

  1. Human plastin genes. Comparative gene structure, chromosome location, and differential expression in normal and neoplastic cells. (PMID: 8428952) Lin CS … Leavitt J (The Journal of biological chemistry 1993) 2 3 4
  2. Correction of the N-terminal sequences of the human plastin isoforms by using anchored polymerase chain reaction: identification of a potential calcium-binding domain. (PMID: 2378651) Lin CS … Leavitt J (Molecular and cellular biology 1990) 3 4 23
  3. PLS3 mutations in X-linked osteoporosis with fractures. (PMID: 24088043) van Dijk FS … Pals G (The New England journal of medicine 2013) 3 4
  4. Expression of T-plastin, FoxP3 and other tumor-associated markers by leukemic T-cells of cutaneous T-cell lymphoma. (PMID: 18569641) Capriotti E … Hess AD (Leukemia & lymphoma 2008) 3 23
  5. Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. (PMID: 16115810) Ralser M … Krobitsch S (Human molecular genetics 2005) 3 23

Products for PLS3 Gene

Sources for PLS3 Gene