Official symbol | PTDSS1 |
Gene id | 9791 |
Organism | Homo sapiens |
Official full symbol | phosphatidylserine synthase 1 |
Gene type | protein-coding |
Also known as | LMHD, PSS1, PSSA |
Summary | The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. |
Genomic regions | Chromosome 8 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PTDSS1-202 | ENST00000517309.6 | 4990 | 473aa | Protein coding | CCDS6271 | P48651-1 | NM_014754.3 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
PTDSS1-206 | ENST00000522072.1 | 1112 | 301aa | Protein coding | - | P48651-3 | - | TSL:2, GENCODE basic, |
PTDSS1-201 | ENST00000337004.8 | 2366 | 108aa | Nonsense mediated decay | - | J3KNR6 | - | TSL:1, |
PTDSS1-205 | ENST00000518776.1 | 766 | No protein | Processed transcript | - | - | - | TSL:3, |
PTDSS1-204 | ENST00000517982.1 | 1215 | No protein | Retained intron | - | - | - | TSL:2, |
PTDSS1-203 | ENST00000517557.5 | 757 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | PTDSS1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PTDSS1 had been KO in hek293t cell line. |
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