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PTDSS2 phosphatidylserine synthase 2 [ Homo sapiens (human) ]

Gene ID: 81490, updated on 12-Oct-2019

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
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

Genomic context

See PTDSS2 in Genome Data Viewer
Location:
11p15.5
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (448215..491400)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (450280..491399)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene single Ig and TIR domain containing Neighboring gene uncharacterized LOC105376506 Neighboring gene anoctamin 9 Neighboring gene RNA, 7SL, cytoplasmic 838, pseudogene Neighboring gene ribonuclease/angiogenin inhibitor 1 Neighboring gene collagen alpha-2(IV) chain-like Neighboring gene leucine rich repeat containing 56 Neighboring gene HRas proto-oncogene, GTPase

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46373

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CDP-diacylglycerol-serine O-phosphatidyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
transferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
phosphatidylserine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylserine biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
phosphatidylserine synthase 2
Names
PSS-2
ptdSer synthase 2
serine-exchange enzyme II
NP_001316473.1
NP_001316474.1
NP_001316477.1
NP_110410.1
XP_011518694.1
XP_011518695.1
XP_016873857.1
XP_016873858.1
XP_016873860.1
XP_024304467.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001329544.2NP_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:120415
    PSS; Phosphatidyl serine synthase
  2. NM_001329545.2NP_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:1190
    PSS; Phosphatidyl serine synthase
  3. NM_001329548.1NP_001316477.1  phosphatidylserine synthase 2 isoform 4 precursor

    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
  4. NM_030783.3NP_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
    A0A024RC97
    Related
    ENSP00000308258.5, ENST00000308020.6
    Conserved Domains (1) summary
    pfam03034
    Location:120399
    PSS; Phosphatidyl serine synthase

RNA

  1. 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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    448215..491400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448699.1XP_024304467.1  phosphatidylserine synthase 2 isoform X1

    Conserved Domains (1) summary
    pfam03034
    Location:60355
    PSS; Phosphatidyl serine synthase
  2. XM_011520393.2XP_011518695.1  phosphatidylserine synthase 2 isoform X2

    See identical proteins and their annotated locations for XP_011518695.1

    Conserved Domains (1) summary
    pfam03034
    Location:1190
    PSS; Phosphatidyl serine synthase
  3. XM_017018369.2XP_016873858.1  phosphatidylserine synthase 2 isoform X2

    Conserved Domains (1) summary
    pfam03034
    Location:1190
    PSS; Phosphatidyl serine synthase
  4. XM_011520392.2XP_011518694.1  phosphatidylserine synthase 2 isoform X2

    See identical proteins and their annotated locations for XP_011518694.1

    Conserved Domains (1) summary
    pfam03034
    Location:1190
    PSS; Phosphatidyl serine synthase
  5. XM_017018371.1XP_016873860.1  phosphatidylserine synthase 2 isoform X2

    Conserved Domains (1) summary
    pfam03034
    Location:1190
    PSS; Phosphatidyl serine synthase
  6. XM_017018368.1XP_016873857.1  phosphatidylserine synthase 2 isoform X2

    Conserved Domains (1) summary
    pfam03034
    Location:1190
    PSS; Phosphatidyl serine synthase

RNA

  1. XR_002957202.1 RNA Sequence

  2. XR_002957201.1 RNA Sequence

  3. XR_242827.1 RNA Sequence

  4. XR_001747993.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187586.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    3534..21041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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