PTDSS1

GENERAL INFORMATION

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Gene name

PTDSS1

Gene description

Phosphatidylserine synthase 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Strong nuclear positivity was observed in renal proximal tubules, gall bladder and myocytes while hepatocytes showed moderate nuclear staining. Strong cytoplasmic immunoreactivity was observed in neuronal cells and in the parathyroid gland and seminal vesicle. The remaining normal tissues were generally negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA016852
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000517309
 
ENST00000522072
 
 
 
 


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
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Show » Show » 473 55.5 No 9
PTDSS1-003 ENSP00000430928
ENST00000522072
B4DE85
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Show » Show » 301 34.6 No 5