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PLP1 (proteolipid protein 1)

Identity

Alias_namesSPG2
PLP
spastic paraplegia 2
Alias_symbol (synonym)GPM6C
Other aliasHLD1
MMPL
PLP/DM20
PMD
HGNC (Hugo) PLP1
LocusID (NCBI) 5354
Atlas_Id 56332
Location Xq22.2  [Link to chromosome band Xq22]
Location_base_pair Starts at 103776793 and ends at 103792618 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)
EPAS1 (2p21) / PLP1 (Xq22.2)MBNL2 (13q32.1) / PLP1 (Xq22.2)MRPL10 (17q21.32) / PLP1 (Xq22.2)
OAZ1 (19p13.3) / PLP1 (Xq22.2)PLP1 (Xq22.2) / GNPAT (1q42.2)PLP1 (Xq22.2) / MAN2A2 (15q26.1)
PLP1 (Xq22.2) / PLP1 (Xq22.2)PLP1 (Xq22.2) / SGK1 (6q23.2)PRRG1 (Xp21.1) / PLP1 (Xq22.2)
PTTG1IP (21q22.3) / PLP1 (Xq22.2)RNU12 (22q13.2) / PLP1 (Xq22.2)

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)PLP1   9086
Cards
Entrez_Gene (NCBI)PLP1  5354  proteolipid protein 1
AliasesGPM6C; HLD1; MMPL; PLP; 
PLP/DM20; PMD; SPG2
GeneCards (Weizmann)PLP1
Ensembl hg19 (Hinxton)ENSG00000123560 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123560 [Gene_View]  chrX:103776793-103792618 [Contig_View]  PLP1 [Vega]
ICGC DataPortalENSG00000123560
TCGA cBioPortalPLP1
AceView (NCBI)PLP1
Genatlas (Paris)PLP1
WikiGenes5354
SOURCE (Princeton)PLP1
Genetics Home Reference (NIH)PLP1
Genomic and cartography
GoldenPath hg38 (UCSC)PLP1  -     chrX:103776793-103792618 +  Xq22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLP1  -     Xq22.2   [Description]    (hg19-Feb_2009)
EnsemblPLP1 - Xq22.2 [CytoView hg19]  PLP1 - Xq22.2 [CytoView hg38]
Mapping of homologs : NCBIPLP1 [Mapview hg19]  PLP1 [Mapview hg38]
OMIM300401   312080   312920   
Gene and transcription
Genbank (Entrez)AI205189 AK128782 AK292728 AK295374 AK295388
RefSeq transcript (Entrez)NM_000533 NM_001128834 NM_001305004 NM_199478
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLP1
Cluster EST : UnigeneHs.1787 [ NCBI ]
CGAP (NCI)Hs.1787
Alternative Splicing GalleryENSG00000123560
Gene ExpressionPLP1 [ NCBI-GEO ]   PLP1 [ EBI - ARRAY_EXPRESS ]   PLP1 [ SEEK ]   PLP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5354
GTEX Portal (Tissue expression)PLP1
Human Protein AtlasENSG00000123560-PLP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60201   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP60201  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP60201
Splice isoforms : SwissVarP60201
PhosPhoSitePlusP60201
Domaine pattern : Prosite (Expaxy)MYELIN_PLP_1 (PS00575)    MYELIN_PLP_2 (PS01004)   
Domains : Interpro (EBI)Myelin_PLP    Myelin_PLP_CS   
Domain families : Pfam (Sanger)Myelin_PLP (PF01275)   
Domain families : Pfam (NCBI)pfam01275   
Domain families : Smart (EMBL)PLP (SM00002)  
Conserved Domain (NCBI)PLP1
DMDM Disease mutations5354
Blocks (Seattle)PLP1
PDB (SRS)2XPG   
PDB (PDBSum)2XPG   
PDB (IMB)2XPG   
PDB (RSDB)2XPG   
Structural Biology KnowledgeBase2XPG   
SCOP (Structural Classification of Proteins)2XPG   
CATH (Classification of proteins structures)2XPG   
SuperfamilyP60201
Human Protein Atlas [tissue]ENSG00000123560-PLP1 [tissue]
Peptide AtlasP60201
HPRD02321
IPIIPI00219661   IPI00939728   IPI00396968   IPI00791779   IPI00792893   IPI00792941   IPI00793440   IPI00794078   IPI00794535   
Protein Interaction databases
DIP (DOE-UCLA)P60201
IntAct (EBI)P60201
FunCoupENSG00000123560
BioGRIDPLP1
STRING (EMBL)PLP1
ZODIACPLP1
Ontologies - Pathways
QuickGOP60201
Ontology : AmiGOstructural molecule activity  protein binding  plasma membrane  inflammatory response  integrin-mediated signaling pathway  chemical synaptic transmission  axon ensheathment  positive regulation of gene expression  astrocyte development  integral component of membrane  structural constituent of myelin sheath  substantia nigra development  central nervous system myelination  long-chain fatty acid biosynthetic process  myelin sheath  cell maturation  axon development  
Ontology : EGO-EBIstructural molecule activity  protein binding  plasma membrane  inflammatory response  integrin-mediated signaling pathway  chemical synaptic transmission  axon ensheathment  positive regulation of gene expression  astrocyte development  integral component of membrane  structural constituent of myelin sheath  substantia nigra development  central nervous system myelination  long-chain fatty acid biosynthetic process  myelin sheath  cell maturation  axon development  
NDEx NetworkPLP1
Atlas of Cancer Signalling NetworkPLP1
Wikipedia pathwaysPLP1
Orthology - Evolution
OrthoDB5354
GeneTree (enSembl)ENSG00000123560
Phylogenetic Trees/Animal Genes : TreeFamPLP1
HOVERGENP60201
HOGENOMP60201
Homologs : HomoloGenePLP1
Homology/Alignments : Family Browser (UCSC)PLP1
Gene fusions - Rearrangements
Tumor Fusion PortalPLP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLP1
dbVarPLP1
ClinVarPLP1
1000_GenomesPLP1 
Exome Variant ServerPLP1
ExAC (Exome Aggregation Consortium)ENSG00000123560
GNOMAD BrowserENSG00000123560
Genetic variants : HAPMAP5354
Genomic Variants (DGV)PLP1 [DGVbeta]
DECIPHERPLP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLP1 
Mutations
ICGC Data PortalPLP1 
TCGA Data PortalPLP1 
Broad Tumor PortalPLP1
OASIS PortalPLP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PLP1
DgiDB (Drug Gene Interaction Database)PLP1
DoCM (Curated mutations)PLP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLP1 (select a term)
intoGenPLP1
Cancer3DPLP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300401    312080    312920   
Orphanet20438    20439    20442    20440    20441    14032   
DisGeNETPLP1
MedgenPLP1
Genetic Testing Registry PLP1
NextProtP60201 [Medical]
TSGene5354
GENETestsPLP1
Target ValidationPLP1
Huge Navigator PLP1 [HugePedia]
snp3D : Map Gene to Disease5354
BioCentury BCIQPLP1
ClinGenPLP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5354
Chemical/Pharm GKB GenePA33414
Clinical trialPLP1
Miscellaneous
canSAR (ICR)PLP1 (select the gene name)
Probes
Litterature
PubMed156 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLP1
EVEXPLP1
GoPubMedPLP1
iHOPPLP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:29:13 CET 2017

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