Details for: PISD

Gene ID: 23761

Symbol: PISD

Ensembl ID: ENSG00000241878

Description: phosphatidylserine decarboxylase

Associated with

Other Information

Genular Protein ID: 4168789818

Symbol: PISD_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9UG56 B1AKM7 O43207 O95535 Q6IC28 Q96GQ2 Q9UGA9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 8 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 12 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HAMAP 1 HAMAP-Rule 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 6 Rhea 2 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 31263216

Title: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.

PubMed ID: 31263216

DOI: 10.1038/s41436-019-0595-x

PubMed ID: 30488656

Title: The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

PubMed ID: 30488656

DOI: 10.1002/humu.23693

PubMed ID: 30858161

Title: PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

PubMed ID: 30858161

DOI: 10.26508/lsa.201900353

PubMed ID: 33593792

Title: Conditional targeting of phosphatidylserine decarboxylase to lipid droplets.

PubMed ID: 33593792

DOI: 10.1242/bio.058516

PubMed ID: 33718843

Title: Impaired phosphatidylethanolamine metabolism activates a reversible stress response that detects and resolves mutant mitochondrial precursors.

PubMed ID: 33718843

DOI: 10.1016/j.isci.2021.102196

Sequence Information:

  • Length: 409
  • Mass: 46672
  • Checksum: 6A5148265369D9DF
  • Sequence:
    • MATSVGHRCL GLLHGVAPWR SSLHPCEITA LSQSLQPLRK LPFRAFRTDA RKIHTAPART 
MFLLRPLPIL LVTGGGYAGY RQYEKYRERE LEKLGLEIPP KLAGHWEVAL YKSVPTRLLS 
RAWGRLNQVE LPHWLRRPVY SLYIWTFGVN MKEAAVEDLH HYRNLSEFFR RKLKPQARPV 
CGLHSVISPS DGRILNFGQV KNCEVEQVKG VTYSLESFLG PRMCTEDLPF PPAASCDSFK 
NQLVTREGNE LYHCVIYLAP GDYHCFHSPT DWTVSHRRHF PGSLMSVNPG MARWIKELFC 
HNERVVLTGD WKHGFFSLTA VGATNVGSIR IYFDRDLHTN SPRHSKGSYN DFSFVTHTNR 
EGVPMRKGEH LGEFNLGSTI VLIFEAPKDF NFQLKTGQKI RFGEALGSL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.