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P48651

- PTSS1_HUMAN

UniProt

P48651 - PTSS1_HUMAN

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Protein

Phosphatidylserine synthase 1

Gene

PTDSS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.

Catalytic activityi

L-1-phosphatidylethanolamine + L-serine = L-1-phosphatidylserine + ethanolamine.

Enzyme regulationi

Requires calcium ions. Activated by exogenous phosphatidylethanolamine.2 Publications

Kineticsi

  1. KM=67 µM for serine (in the presence of 2 mM PC)1 Publication
  2. KM=24 µM for serine (in the presence of 1 mM PE)1 Publication

pH dependencei

Optimum pH for both PC and PE is between 7.0 and 7.5.1 Publication

Pathwayi

GO - Molecular functioni

  1. transferase activity Source: UniProtKB-KW

GO - Biological processi

  1. glycerophospholipid biosynthetic process Source: Reactome
  2. phosphatidylserine biosynthetic process Source: Reactome
  3. phospholipid metabolic process Source: Reactome
  4. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS08129-MONOMER.
ReactomeiREACT_120823. Synthesis of PS.
UniPathwayiUPA00948.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylserine synthase 1 (EC:2.7.8.29)
Short name:
PSS-1
Short name:
PtdSer synthase 1
Alternative name(s):
Serine-exchange enzyme I
Gene namesi
Name:PTDSS1
Synonyms:KIAA0024, PSSA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:9587. PTDSS1.

Subcellular locationi

Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity
Note: Highly enriched in the mitochondria-associated membrane (MAM).By similarity

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Lenz-Majewski hyperostotic dwarfism (LMHD) [MIM:151050]: A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti265 – 2651L → P in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 Publication
VAR_070987
Natural varianti269 – 2691P → S in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 Publication
VAR_070988
Natural varianti353 – 3531Q → R in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 Publication
VAR_070989

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

MIMi151050. phenotype.
Orphaneti2658. Lenz-Majewski hyperostotic dwarfism.
PharmGKBiPA33939.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 473473Phosphatidylserine synthase 1PRO_0000056829Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei417 – 4171Phosphoserine1 Publication
Modified residuei425 – 4251Phosphoserine1 Publication
Modified residuei442 – 4421Phosphoserine3 Publications
Modified residuei454 – 4541Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP48651.
PaxDbiP48651.
PeptideAtlasiP48651.
PRIDEiP48651.

PTM databases

PhosphoSiteiP48651.

Expressioni

Gene expression databases

BgeeiP48651.
CleanExiHS_PTDSS1.
ExpressionAtlasiP48651. baseline and differential.
GenevestigatoriP48651.

Organism-specific databases

HPAiHPA016852.

Interactioni

Protein-protein interaction databases

BioGridi115135. 4 interactions.
IntActiP48651. 1 interaction.
STRINGi9606.ENSP00000337331.

Structurei

3D structure databases

ProteinModelPortaliP48651.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3535CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini57 – 7216LumenalSequence AnalysisAdd
BLAST
Topological domaini94 – 1029CytoplasmicSequence Analysis
Topological domaini124 – 18663LumenalSequence AnalysisAdd
BLAST
Topological domaini208 – 2169CytoplasmicSequence Analysis
Topological domaini238 – 28649LumenalSequence AnalysisAdd
BLAST
Topological domaini308 – 31912CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini343 – 35513LumenalSequence AnalysisAdd
BLAST
Topological domaini377 – 3837CytoplasmicSequence Analysis
Topological domaini405 – 47369LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei36 – 5621HelicalSequence AnalysisAdd
BLAST
Transmembranei73 – 9321HelicalSequence AnalysisAdd
BLAST
Transmembranei103 – 12321HelicalSequence AnalysisAdd
BLAST
Transmembranei187 – 20721HelicalSequence AnalysisAdd
BLAST
Transmembranei217 – 23721HelicalSequence AnalysisAdd
BLAST
Transmembranei287 – 30721HelicalSequence AnalysisAdd
BLAST
Transmembranei320 – 34223HelicalSequence AnalysisAdd
BLAST
Transmembranei356 – 37621HelicalSequence AnalysisAdd
BLAST
Transmembranei384 – 40421HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG264399.
GeneTreeiENSGT00530000063576.
HOVERGENiHBG053765.
InParanoidiP48651.
KOiK08729.
OMAiSGNNESH.
OrthoDBiEOG7CRTQC.
PhylomeDBiP48651.
TreeFamiTF300012.

Family and domain databases

InterProiIPR004277. PSS.
[Graphical view]
PANTHERiPTHR12615. PTHR12615. 1 hit.
PfamiPF03034. PSS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P48651-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASCVGSRTL SKDDVNYKMH FRMINEQQVE DITIDFFYRP HTITLLSFTI
60 70 80 90 100
VSLMYFAFTR DDSVPEDNIW RGILSVIFFF LIISVLAFPN GPFTRPHPAL
110 120 130 140 150
WRMVFGLSVL YFLFLVFLLF LNFEQVKSLM YWLDPNLRYA TREADVMEYA
160 170 180 190 200
VNCHVITWER IISHFDIFAF GHFWGWAMKA LLIRSYGLCW TISITWELTE
210 220 230 240 250
LFFMHLLPNF AECWWDQVIL DILLCNGGGI WLGMVVCRFL EMRTYHWASF
260 270 280 290 300
KDIHTTTGKI KRAVLQFTPA SWTYVRWFDP KSSFQRVAGV YLFMIIWQLT
310 320 330 340 350
ELNTFFLKHI FVFQASHPLS WGRILFIGGI TAPTVRQYYA YLTDTQCKRV
360 370 380 390 400
GTQCWVFGVI GFLEAIVCIK FGQDLFSKTQ ILYVVLWLLC VAFTTFLCLY
410 420 430 440 450
GMIWYAEHYG HREKTYSECE DGTYSPEISW HHRKGTKGSE DSPPKHAGNN
460 470
ESHSSRRRNR HSKSKVTNGV GKK
Length:473
Mass (Da):55,528
Last modified:February 1, 1996 - v1
Checksum:iCFC8F50A33CE038D
GO
Isoform 2 (identifier: P48651-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Note: No experimental confirmation available.

Show »
Length:327
Mass (Da):38,273
Checksum:i6F14EC0246926405
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti265 – 2651L → P in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 Publication
VAR_070987
Natural varianti269 – 2691P → S in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 Publication
VAR_070988
Natural varianti353 – 3531Q → R in LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine. 1 Publication
VAR_070989
Natural varianti423 – 4231T → N.
Corresponds to variant rs7835798 [ dbSNP | Ensembl ].
VAR_048735

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 146146Missing in isoform 2. 1 PublicationVSP_055980Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D14694 mRNA. Translation: BAA03520.1.
AP003465 Genomic DNA. No translation available.
BC004192 mRNA. Translation: AAH04192.1.
BC002376 mRNA. Translation: AAH02376.2.
BC004390 mRNA. Translation: AAH04390.1.
CCDSiCCDS6271.1. [P48651-1]
RefSeqiNP_001277154.1. NM_001290225.1.
NP_055569.1. NM_014754.2.
UniGeneiHs.292579.

Genome annotation databases

EnsembliENST00000517309; ENSP00000430548; ENSG00000156471. [P48651-1]
GeneIDi9791.
KEGGihsa:9791.
UCSCiuc003yht.1. human. [P48651-1]

Polymorphism databases

DMDMi1346881.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D14694 mRNA. Translation: BAA03520.1 .
AP003465 Genomic DNA. No translation available.
BC004192 mRNA. Translation: AAH04192.1 .
BC002376 mRNA. Translation: AAH02376.2 .
BC004390 mRNA. Translation: AAH04390.1 .
CCDSi CCDS6271.1. [P48651-1 ]
RefSeqi NP_001277154.1. NM_001290225.1.
NP_055569.1. NM_014754.2.
UniGenei Hs.292579.

3D structure databases

ProteinModelPortali P48651.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115135. 4 interactions.
IntActi P48651. 1 interaction.
STRINGi 9606.ENSP00000337331.

Chemistry

DrugBanki DB00144. Phosphatidylserine.

PTM databases

PhosphoSitei P48651.

Polymorphism databases

DMDMi 1346881.

Proteomic databases

MaxQBi P48651.
PaxDbi P48651.
PeptideAtlasi P48651.
PRIDEi P48651.

Protocols and materials databases

DNASUi 9791.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000517309 ; ENSP00000430548 ; ENSG00000156471 . [P48651-1 ]
GeneIDi 9791.
KEGGi hsa:9791.
UCSCi uc003yht.1. human. [P48651-1 ]

Organism-specific databases

CTDi 9791.
GeneCardsi GC08P097273.
HGNCi HGNC:9587. PTDSS1.
HPAi HPA016852.
MIMi 151050. phenotype.
612792. gene.
neXtProti NX_P48651.
Orphaneti 2658. Lenz-Majewski hyperostotic dwarfism.
PharmGKBi PA33939.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264399.
GeneTreei ENSGT00530000063576.
HOVERGENi HBG053765.
InParanoidi P48651.
KOi K08729.
OMAi SGNNESH.
OrthoDBi EOG7CRTQC.
PhylomeDBi P48651.
TreeFami TF300012.

Enzyme and pathway databases

UniPathwayi UPA00948 .
BioCyci MetaCyc:HS08129-MONOMER.
Reactomei REACT_120823. Synthesis of PS.

Miscellaneous databases

GenomeRNAii 9791.
NextBioi 36870.
PROi P48651.
SOURCEi Search...

Gene expression databases

Bgeei P48651.
CleanExi HS_PTDSS1.
ExpressionAtlasi P48651. baseline and differential.
Genevestigatori P48651.

Family and domain databases

InterProi IPR004277. PSS.
[Graphical view ]
PANTHERi PTHR12615. PTHR12615. 1 hit.
Pfami PF03034. PSS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1."
    Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
    DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Bone marrow.
  2. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain, Lymph and Muscle.
  4. "Control of phosphatidylserine biosynthesis through phosphatidylserine-mediated inhibition of phosphatidylserine synthase I in Chinese hamster ovary cells."
    Kuge O., Hasegawa K., Saito K., Nishijima M.
    Proc. Natl. Acad. Sci. U.S.A. 95:4199-4203(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: ENZYME REGULATION.
  5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-442, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-417 AND SER-425, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Purification and characterization of human phosphatidylserine synthases 1 and 2."
    Tomohiro S., Kawaguti A., Kawabe Y., Kitada S., Kuge O.
    Biochem. J. 418:421-429(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBSTRATE SPECIFICITY, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-442, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-442 AND SER-454, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. Cited for: VARIANTS LMHD PRO-265; SER-269 AND ARG-353, CHARACTERIZATION OF VARIANTS LMHD PRO-265; SER-269 AND ARG-353.

Entry informationi

Entry nameiPTSS1_HUMAN
AccessioniPrimary (citable) accession number: P48651
Secondary accession number(s): E5RFC5, Q9BUQ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: October 29, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3