PTDSS1

GENE INFORMATION

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Gene name

PTDSS1 (HGNC Symbol)

Synonyms

KIAA0024, PSS1, PSSA

Description

Phosphatidylserine synthase 1 (HGNC Symbol)

Entrez gene 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. [provided by RefSeq, Mar 2014]

Chromosome

8

Cytoband

q22.1

Chromosome location (bp)

96261715 - 96336995

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000156471 (version 78.38)

Entrez gene

9791

UniProt

P48651 (UniProt - Evidence at protein level)

neXtProt

NX_P48651

Antibodypedia

PTDSS1 antibodies
 

PROTEIN VIEW

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PTDSS1-001
 
PTDSS1-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PTDSS1-001 ENSP00000430548
ENST00000517309
P48651
Show all »
Show » Show » 473 55.5 No 9
PTDSS1-003 ENSP00000430928
ENST00000522072
B4DE85
Show all »
Show » Show » 301 34.6 No 5