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)

97273943 - 97349223

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000156471 (version 75.37)

Entrez gene

9791

UniProt

P48651 (UniProt - Evidence at protein level)

neXtProt

NX_P48651

Antibodypedia

PTDSS1 antibodies
 

PROTEIN VIEW

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PTDSS1-001
 
PTDSS1-002
 
PTDSS1-003
 
PTDSS1-201
 
 
 
 
 

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
PTDSS1-002 ENSP00000337331
ENST00000337004
J3KNR6
Show all »
Show » Show » 108 12.5 No 2
PTDSS1-003 ENSP00000430928
ENST00000522072
B4DE85
Show all »
Show » Show » 301 34.6 No 5
PTDSS1-201 ENSP00000401248
ENST00000455950
Q9BUQ5
Show all »
Show » Show » 327 38.3 No 6