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PLS1 (plastin 1)

Identity

Alias (NCBI)DFNA76
HGNC (Hugo) PLS1
HGNC Alias symbI-plastin
Plastin-1
HGNC Previous nameplastin 1 (I isoform)
LocusID (NCBI) 5357
Atlas_Id 41750
Location 3q23  [Link to chromosome band 3q23]
Location_base_pair Starts at 142623424 and ends at 142713663 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PLS1 (3q23)::CLDN18 (3q22.3)PLS1 (3q23)::TFDP2 (3q23)PLS1 3q23::CLDN18 3q22.3
PLS1 3q23::TFDP2 3q23

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PLS1   9090
Cards
Entrez_Gene (NCBI)PLS1    plastin 1
AliasesDFNA76
GeneCards (Weizmann)PLS1
Ensembl hg19 (Hinxton)ENSG00000120756 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120756 [Gene_View]  ENSG00000120756 [Sequence]  chr3:142623424-142713663 [Contig_View]  PLS1 [Vega]
ICGC DataPortalENSG00000120756
TCGA cBioPortalPLS1
AceView (NCBI)PLS1
Genatlas (Paris)PLS1
SOURCE (Princeton)PLS1
Genetics Home Reference (NIH)PLS1
Genomic and cartography
GoldenPath hg38 (UCSC)PLS1  -     chr3:142623424-142713663 +  3q23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLS1  -     3q23   [Description]    (hg19-Feb_2009)
GoldenPathPLS1 - 3q23 [CytoView hg19]  PLS1 - 3q23 [CytoView hg38]
ImmunoBaseENSG00000120756
Genome Data Viewer NCBIPLS1 [Mapview hg19]  
OMIM602734   618787   
Gene and transcription
Genbank (Entrez)AA933088 AK290316 BC031083 BM263745 BP262012
RefSeq transcript (Entrez)NM_001145319 NM_001172312 NM_002670
Consensus coding sequences : CCDS (NCBI)PLS1
Gene ExpressionPLS1 [ NCBI-GEO ]   PLS1 [ EBI - ARRAY_EXPRESS ]   PLS1 [ SEEK ]   PLS1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLS1 [ Firebrowse - Broad ]
GenevisibleExpression of PLS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5357
GTEX Portal (Tissue expression)PLS1
Human Protein AtlasENSG00000120756-PLS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14651   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14651  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14651
PhosPhoSitePlusQ14651
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    CH_dom_sf    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Fimbrin/Plastin    PLS1   
Domain families : Pfam (Sanger)CH (PF00307)    EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam00307    pfam13499   
Domain families : Smart (EMBL)CH (SM00033)  EFh (SM00054)  
Conserved Domain (NCBI)PLS1
SuperfamilyQ14651
AlphaFold pdb e-kbQ14651   
Human Protein Atlas [tissue]ENSG00000120756-PLS1 [tissue]
HPRD04110
Protein Interaction databases
DIP (DOE-UCLA)Q14651
IntAct (EBI)Q14651
BioGRIDPLS1
STRING (EMBL)PLS1
ZODIACPLS1
Ontologies - Pathways
QuickGOQ14651
Ontology : AmiGOintestinal D-glucose absorption  structural constituent of cytoskeleton  calcium ion binding  cytoplasm  actin filament  brush border  stereocilium  actin filament bundle  regulation of microvillus length  positive regulation of multicellular organism growth  actin filament binding  actin filament bundle assembly  actin filament network formation  auditory receptor cell stereocilium organization  vestibular receptor cell stereocilium organization  extracellular exosome  terminal web assembly  positive regulation of protein localization to plasma membrane  terminal web  
Ontology : EGO-EBIintestinal D-glucose absorption  structural constituent of cytoskeleton  calcium ion binding  cytoplasm  actin filament  brush border  stereocilium  actin filament bundle  regulation of microvillus length  positive regulation of multicellular organism growth  actin filament binding  actin filament bundle assembly  actin filament network formation  auditory receptor cell stereocilium organization  vestibular receptor cell stereocilium organization  extracellular exosome  terminal web assembly  positive regulation of protein localization to plasma membrane  terminal web  
NDEx NetworkPLS1
Atlas of Cancer Signalling NetworkPLS1
Wikipedia pathwaysPLS1
Orthology - Evolution
OrthoDB5357
GeneTree (enSembl)ENSG00000120756
Phylogenetic Trees/Animal Genes : TreeFamPLS1
Homologs : HomoloGenePLS1
Homology/Alignments : Family Browser (UCSC)PLS1
Gene fusions - Rearrangements
Fusion : MitelmanPLS1::CLDN18 [3q23/3q22.3]  
Fusion : QuiverPLS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLS1
dbVarPLS1
ClinVarPLS1
MonarchPLS1
1000_GenomesPLS1 
Exome Variant ServerPLS1
GNOMAD BrowserENSG00000120756
Varsome BrowserPLS1
ACMGPLS1 variants
VarityQ14651
Genomic Variants (DGV)PLS1 [DGVbeta]
DECIPHERPLS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLS1 
Mutations
ICGC Data PortalPLS1 
TCGA Data PortalPLS1 
Broad Tumor PortalPLS1
OASIS PortalPLS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPLS1
Mutations and Diseases : HGMDPLS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPLS1
DgiDB (Drug Gene Interaction Database)PLS1
DoCM (Curated mutations)PLS1
CIViC (Clinical Interpretations of Variants in Cancer)PLS1
Cancer3DPLS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602734    618787   
Orphanet
DisGeNETPLS1
MedgenPLS1
Genetic Testing Registry PLS1
NextProtQ14651 [Medical]
GENETestsPLS1
Target ValidationPLS1
Huge Navigator PLS1 [HugePedia]
ClinGenPLS1
Clinical trials, drugs, therapy
MyCancerGenomePLS1
Protein Interactions : CTDPLS1
Pharm GKB GenePA33417
PharosQ14651
Clinical trialPLS1
Miscellaneous
canSAR (ICR)PLS1
HarmonizomePLS1
ARCHS4PLS1
DataMed IndexPLS1
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPLS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:27:56 CET 2022

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