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PLS3 Gene(Protein Coding)

Plastin 3

GCID:
GC0XP115560
GIFtS:
56
Genes Participants
UDN Logo

Aliases for PLS3 Gene

Aliases for PLS3 Gene

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

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 Qtl18, Osteoporosis and Sezary's Disease. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is LCP1.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for PLS3 Gene

Genomics for PLS3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PLS3 Gene

Enhancers for PLS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG115559 1 ENCODE 15.1 +1.2 1170 5.7 PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 GLIS2 GATA2 FOS ZNF263 PLS3 PLS3-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLS3 on UCSC Golden Path with GeneCards custom track

Promoters for PLS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248186 1150 2401 PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 GLIS2 FOS ZNF263 SP3

Transcription factor binding sites by QIAGEN in the PLS3 gene promoter:

Genomic Location for PLS3 Gene

Chromosome:
X
Start:
115,560,850 bp from pter
End:
115,650,861 bp from pter
Size:
90,012 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 Structure • Gene Density

RefSeq DNA sequence for PLS3 Gene

Proteins for PLS3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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.
    SequenceCaution:
    • Sequence=CAI39884.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLS3 Gene

    Alternative splice isoforms for PLS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLS3 Gene

Protein Expression for PLS3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PLS3 Gene

  • Ubiquitination at Lys52, Lys59, Lys100, posLast=168168, Lys300, Lys382, and posLast=437437
  • Modification sites at PhosphoSitePlus

Other Protein References for PLS3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PLS3 Gene

Domains & Families for PLS3 Gene

No data available for UniProtKB/Swiss-Prot for PLS3 Gene

Function for PLS3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Gene Ontology (GO) - Molecular Function for PLS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051015 actin filament binding IBA --
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 tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA 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
peroxisome 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PLS3 Gene

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

Pathways & Interactions for PLS3 Gene

SuperPathways for PLS3 Gene

PathCards logo More details on SuperPathways for PLS3
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 IBA --
GO:0051639 actin filament network formation IBA --
GO:0051764 actin crosslink formation IBA --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PLS3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PLS3 Gene

(6) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(531) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PLS3 Gene

Plastin 3:
Representative Sequences:

Inhibitory RNA 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
ECgene alternative splicing isoforms for
PLS3

Expression for PLS3 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for PLS3 Gene
mRNA expression by BioGPS for PLS3 GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for PLS3 Gene



Protein tissue co-expression partners for PLS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLS3 Gene:

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(4.7)
  • Kidney(4.5)
  • Liver(4.4)
  • Lung(3.7)
  • Intestine(2.4)
  • Blood(2.2)
  • Spleen(2.2)
  • Thyroid gland(2.1)

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

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Organs:
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

Primer Products

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 34 35
  • 99.61 (n)
oppossum
(Monodelphis domestica)
 Mammalia PLS3 35
  • 95 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia PLS3 34 35
  • 94.71 (n)
dog
(Canis familiaris)
 Mammalia PLS3 34 35
  • 93.54 (n)
rat
(Rattus norvegicus)
 Mammalia Pls3 34
  • 91.22 (n)
mouse
(Mus musculus)
 Mammalia Pls3 34 16 35
  • 90.79 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia PLS3 35
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PLS3 34 35
  • 82.11 (n)
lizard
(Anolis carolinensis)
 Reptilia PLS3 35
  • 93 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pls3 34
  • 79.09 (n)
Str.17623 34
African clawed frog
(Xenopus laevis)
 Amphibia MGC68681 34
zebrafish
(Danio rerio)
 Actinopterygii pls3 34 35
  • 74.85 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Fim 36 35
  • 54 (a)
worm
(Caenorhabditis elegans)
 Secernentea Y104H12BR.1 36
  • 59 (a)
Y73B3B.1 36 35
  • 59 (a)
plst-1 35
  • 52 (a)
 ManyToMany
Y104H12BL.1 36
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SAC6 35 37
  • 38 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT5G48460 34
  • 53.58 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0514600 34
  • 50.69 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8022 35
  • 49 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4644 34
Species where no ortholog for PLS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for PLS3 Gene

Paralogs for PLS3 Gene

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

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 from dbSNP and Humsavar for PLS3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_035462 A breast cancer sample
rs140121121 other 115,629,281(+) CTGGG(A/T)GGAAC reference, synonymous-codon
rs397518421 other 115,646,495(+) GGAAC(C/T)AAACC reference, stop-gained
rs397518463 other 115,622,407(+) TTGTT(-/T)ATGTA intron-variant, reference, frameshift-variant
rs1000058798 -- 115,636,156(+) AAAGG(C/T)TAAGT intron-variant

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)

Relevant External Links for PLS3 Gene

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

Disorders for PLS3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PLS3 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bone mineral density qtl18, osteoporosis
  • bone mineral density quantitative trait locus 18
sezary's disease
  • sezary disease
osteogenesis imperfecta, type i
  • osteogenesis imperfecta type 1
muscular atrophy
  • amyotrophia
spinal muscular atrophy
  • kugelberg-welander disease
- 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.

Relevant External Links for PLS3

Genetic Association Database (GAD)
PLS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 C.-S. … Leavitt J. (J. Biol. Chem. 1993) 2 3 4 64
  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 C.-S. … Leavitt J. (Mol. Cell. Biol. 1990) 3 4 22 64
  3. PLS3 mutations in X-linked osteoporosis with fractures. (PMID: 24088043) van Dijk F.S. … Pals G. (N. Engl. J. Med. 2013) 3 4 64
  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 A.D. (Leuk. Lymphoma 2008) 3 22 64
  5. Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. (PMID: 16115810) Ralser M. … Krobitsch S. (Hum. Mol. Genet. 2005) 3 22 64

Products for PLS3 Gene

Sources for PLS3 Gene

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