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PTDSS1 (phosphatidylserine synthase 1)

Identity

Alias_symbol (synonym)KIAA0024
PSSA
PSS1
Other aliasLMHD
HGNC (Hugo) PTDSS1
LocusID (NCBI) 9791
Atlas_Id 54563
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 97274114 and ends at 97346779 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PTDSS1 (8q22.1) / PTDSS1 (8q22.1)PTDSS1 (8q22.1) / PTK2 (8q24.3)PTDSS1 (8q22.1) / SPRYD3 (12q13.13)
WSCD1 (17p13.2) / PTDSS1 (8q22.1)PTDSS1 8q22.1 / PTK2 8q24.3

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)PTDSS1   9587
Cards
Entrez_Gene (NCBI)PTDSS1  9791  phosphatidylserine synthase 1
AliasesLMHD; PSS1; PSSA
GeneCards (Weizmann)PTDSS1
Ensembl hg19 (Hinxton)ENSG00000156471 [Gene_View]  chr8:97274114-97346779 [Contig_View]  PTDSS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156471 [Gene_View]  chr8:97274114-97346779 [Contig_View]  PTDSS1 [Vega]
ICGC DataPortalENSG00000156471
TCGA cBioPortalPTDSS1
AceView (NCBI)PTDSS1
Genatlas (Paris)PTDSS1
WikiGenes9791
SOURCE (Princeton)PTDSS1
Genetics Home Reference (NIH)PTDSS1
Genomic and cartography
GoldenPath hg19 (UCSC)PTDSS1  -     chr8:97274114-97346779 +  8q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTDSS1  -     8q22.1   [Description]    (hg38-Dec_2013)
EnsemblPTDSS1 - 8q22.1 [CytoView hg19]  PTDSS1 - 8q22.1 [CytoView hg38]
Mapping of homologs : NCBIPTDSS1 [Mapview hg19]  PTDSS1 [Mapview hg38]
OMIM151050   612792   
Gene and transcription
Genbank (Entrez)AK293036 AK293513 BC002376 BC004192 BC004390
RefSeq transcript (Entrez)NM_001290225 NM_014754
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_034054 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)PTDSS1
Cluster EST : UnigeneHs.292579 [ NCBI ]
CGAP (NCI)Hs.292579
Alternative Splicing GalleryENSG00000156471
Gene ExpressionPTDSS1 [ NCBI-GEO ]   PTDSS1 [ EBI - ARRAY_EXPRESS ]   PTDSS1 [ SEEK ]   PTDSS1 [ MEM ]
Gene Expression Viewer (FireBrowse)PTDSS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9791
GTEX Portal (Tissue expression)PTDSS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48651   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48651  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48651
Splice isoforms : SwissVarP48651
Catalytic activity : Enzyme2.7.8.29 [ Enzyme-Expasy ]   2.7.8.292.7.8.29 [ IntEnz-EBI ]   2.7.8.29 [ BRENDA ]   2.7.8.29 [ KEGG ]   
PhosPhoSitePlusP48651
Domains : Interpro (EBI)PSS   
Domain families : Pfam (Sanger)PSS (PF03034)   
Domain families : Pfam (NCBI)pfam03034   
Conserved Domain (NCBI)PTDSS1
DMDM Disease mutations9791
Blocks (Seattle)PTDSS1
SuperfamilyP48651
Human Protein AtlasENSG00000156471
Peptide AtlasP48651
HPRD17926
IPIIPI00010746   IPI00794618   IPI00972989   IPI00979883   
Protein Interaction databases
DIP (DOE-UCLA)P48651
IntAct (EBI)P48651
FunCoupENSG00000156471
BioGRIDPTDSS1
STRING (EMBL)PTDSS1
ZODIACPTDSS1
Ontologies - Pathways
QuickGOP48651
Ontology : AmiGOendoplasmic reticulum membrane  endoplasmic reticulum membrane  phosphatidylserine biosynthetic process  phosphatidylserine biosynthetic process  phospholipid biosynthetic process  membrane  membrane  integral component of membrane  transferase activity  
Ontology : EGO-EBIendoplasmic reticulum membrane  endoplasmic reticulum membrane  phosphatidylserine biosynthetic process  phosphatidylserine biosynthetic process  phospholipid biosynthetic process  membrane  membrane  integral component of membrane  transferase activity  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkPTDSS1
Atlas of Cancer Signalling NetworkPTDSS1
Wikipedia pathwaysPTDSS1
Orthology - Evolution
OrthoDB9791
GeneTree (enSembl)ENSG00000156471
Phylogenetic Trees/Animal Genes : TreeFamPTDSS1
HOVERGENP48651
HOGENOMP48651
Homologs : HomoloGenePTDSS1
Homology/Alignments : Family Browser (UCSC)PTDSS1
Gene fusions - Rearrangements
Fusion : MitelmanPTDSS1/PTK2 [8q22.1/8q24.3]  
Fusion : MitelmanPTDSS1/SPRYD3 [8q22.1/12q13.13]  [t(8;12)(q22;q13)]  
Fusion: TCGAPTDSS1 8q22.1 PTK2 8q24.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTDSS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTDSS1
dbVarPTDSS1
ClinVarPTDSS1
1000_GenomesPTDSS1 
Exome Variant ServerPTDSS1
ExAC (Exome Aggregation Consortium)PTDSS1 (select the gene name)
Genetic variants : HAPMAP9791
Genomic Variants (DGV)PTDSS1 [DGVbeta]
DECIPHER (Syndromes)8:97274114-97346779  ENSG00000156471
CONAN: Copy Number AnalysisPTDSS1 
Mutations
ICGC Data PortalPTDSS1 
TCGA Data PortalPTDSS1 
Broad Tumor PortalPTDSS1
OASIS PortalPTDSS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTDSS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTDSS1
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
BioMutasearch PTDSS1
DgiDB (Drug Gene Interaction Database)PTDSS1
DoCM (Curated mutations)PTDSS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTDSS1 (select a term)
intoGenPTDSS1
Cancer3DPTDSS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM151050    612792   
Orphanet2429   
MedgenPTDSS1
Genetic Testing Registry PTDSS1
NextProtP48651 [Medical]
TSGene9791
GENETestsPTDSS1
Huge Navigator PTDSS1 [HugePedia]
snp3D : Map Gene to Disease9791
BioCentury BCIQPTDSS1
ClinGenPTDSS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9791
Chemical/Pharm GKB GenePA33939
Clinical trialPTDSS1
Miscellaneous
canSAR (ICR)PTDSS1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTDSS1
EVEXPTDSS1
GoPubMedPTDSS1
iHOPPTDSS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:16:08 CEST 2017

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