PTDSS2 phosphatidylserine synthase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTDSS2provided by HGNC
Official Full Name: phosphatidylserine synthase 2provided by HGNC
Primary source: HGNC:HGNC:15463
See related: Ensembl:ENSG00000174915 MIM:612793; AllianceGenome:HGNC:15463
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PSS2
Summary: The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]
Expression: Broad expression in testis (RPKM 10.7), kidney (RPKM 4.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (448268..491399)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (493612..537233)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (448268..491399)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Purification and characterization of human phosphatidylserine synthases 1 and 2.
Title: Purification and characterization of human phosphatidylserine synthases 1 and 2.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CDP-diacylglycerol-serine O-phosphatidyltransferase activity	IEA Inferred from Electronic Annotation more info
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables transferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in phosphatidylserine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylserine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylserine biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phosphatidylserine synthase 2

Names: PSS-2; ptdSer synthase 2; serine-exchange enzyme II

NP_001316473.1

EC 2.7.8.29

NP_001316474.1

EC 2.7.8.29

NP_001316477.1

EC 2.7.8.29

NP_110410.1

EC 2.7.8.29

XP_024304467.1

EC 2.7.8.29

XP_047283598.1

EC 2.7.8.29

XP_047283599.1

EC 2.7.8.29

XP_047283600.1

EC 2.7.8.29

XP_054226027.1

EC 2.7.8.29

XP_054226028.1

EC 2.7.8.29

XP_054226029.1

EC 2.7.8.29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001329544.2 → NP_001316473.1 phosphatidylserine synthase 2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC137894, AC138230

Conserved Domains (1) summary

pfam03034
Location:120 → 415

PSS; Phosphatidyl serine synthase
NM_001329545.2 → NP_001316474.1 phosphatidylserine synthase 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice junction compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC137894, AC138230

Conserved Domains (1) summary

pfam03034
Location:1 → 190

PSS; Phosphatidyl serine synthase
NM_001329548.2 → NP_001316477.1 phosphatidylserine synthase 2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate splice junction compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AC137894, AC138230

UniProtKB/TrEMBL

A0A0J9YWQ2
NM_030783.3 → NP_110410.1 phosphatidylserine synthase 2 isoform 2

See identical proteins and their annotated locations for NP_110410.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC138230, BC001210, BQ575571

Consensus CDS

CCDS7696.1

UniProtKB/Swiss-Prot

Q9BVG9

UniProtKB/TrEMBL

A0A0J9YWQ2

Related

ENSP00000308258.5, ENST00000308020.6

Conserved Domains (1) summary

pfam03034
Location:120 → 399

PSS; Phosphatidyl serine synthase

RNA

NR_138046.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice junction and lacks a portion of the last exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC137894, AC138230

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

448268..491399

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427642.1 → XP_047283598.1 phosphatidylserine synthase 2 isoform X1
XM_024448699.2 → XP_024304467.1 phosphatidylserine synthase 2 isoform X3

UniProtKB/TrEMBL

A0A0J9YWQ2

Conserved Domains (1) summary

pfam03034
Location:60 → 355

PSS; Phosphatidyl serine synthase
XM_047427643.1 → XP_047283599.1 phosphatidylserine synthase 2 isoform X2
XM_047427644.1 → XP_047283600.1 phosphatidylserine synthase 2 isoform X4