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Protein

GPI ethanolamine phosphate transferase 1

Gene

PIGN

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

Functioni

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.By similarity1 Publication

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

GO - Molecular functioni

  • mannose-ethanolamine phosphotransferase activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
UniPathwayi
UPA00196

Names & Taxonomyi

Protein namesi
Recommended name:
GPI ethanolamine phosphate transferase 1 (EC:2.-.-.-)
Alternative name(s):
MCD4 homolog
Phosphatidylinositol-glycan biosynthesis class N protein
Short name:
PIG-N
Gene namesi
Name:PIGN
Synonyms:MCD4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000197563.9
HGNCiHGNC:8967 PIGN
MIMi606097 gene
neXtProtiNX_O95427

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1CytoplasmicSequence analysis1
Transmembranei2 – 24HelicalSequence analysisAdd BLAST23
Topological domaini25 – 442LumenalSequence analysisAdd BLAST418
Transmembranei443 – 463HelicalSequence analysisAdd BLAST21
Topological domaini464 – 482CytoplasmicSequence analysisAdd BLAST19
Transmembranei483 – 503HelicalSequence analysisAdd BLAST21
Topological domaini504 – 508LumenalSequence analysis5
Transmembranei509 – 529HelicalSequence analysisAdd BLAST21
Topological domaini530 – 543CytoplasmicSequence analysisAdd BLAST14
Transmembranei544 – 564HelicalSequence analysisAdd BLAST21
Topological domaini565LumenalSequence analysis1
Transmembranei566 – 586HelicalSequence analysisAdd BLAST21
Topological domaini587 – 591CytoplasmicSequence analysis5
Transmembranei592 – 612HelicalSequence analysisAdd BLAST21
Topological domaini613 – 618LumenalSequence analysis6
Transmembranei619 – 639HelicalSequence analysisAdd BLAST21
Topological domaini640 – 649CytoplasmicSequence analysis10
Transmembranei650 – 670HelicalSequence analysisAdd BLAST21
Topological domaini671 – 685LumenalSequence analysisAdd BLAST15
Transmembranei686 – 706HelicalSequence analysisAdd BLAST21
Topological domaini707 – 723CytoplasmicSequence analysisAdd BLAST17
Transmembranei724 – 744HelicalSequence analysisAdd BLAST21
Topological domaini745 – 786LumenalSequence analysisAdd BLAST42
Transmembranei787 – 807HelicalSequence analysisAdd BLAST21
Topological domaini808 – 824CytoplasmicSequence analysisAdd BLAST17
Transmembranei825 – 845HelicalSequence analysisAdd BLAST21
Topological domaini846 – 858LumenalSequence analysisAdd BLAST13
Transmembranei859 – 879HelicalSequence analysisAdd BLAST21
Topological domaini880 – 894CytoplasmicSequence analysisAdd BLAST15
Transmembranei895 – 915HelicalSequence analysisAdd BLAST21
Topological domaini916 – 931LumenalSequence analysisAdd BLAST16

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age.
See also OMIM:614080
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066402709R → Q in MCAHS1. 1 PublicationCorresponds to variant dbSNP:rs397514475EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi23556
MalaCardsiPIGN
MIMi614080 phenotype
OpenTargetsiENSG00000197563
Orphaneti2059 Fryns syndrome
280633 Multiple congenital anomalies-hypotonia-seizures syndrome
PharmGKBiPA33298

Polymorphism and mutation databases

BioMutaiPIGN

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002461981 – 931GPI ethanolamine phosphate transferase 1Add BLAST931

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi128N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi350N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO95427
MaxQBiO95427
PaxDbiO95427
PeptideAtlasiO95427
PRIDEiO95427
ProteomicsDBi50868

PTM databases

GlyConnecti1284
iPTMnetiO95427
PhosphoSitePlusiO95427
SwissPalmiO95427

Expressioni

Gene expression databases

BgeeiENSG00000197563 Expressed in 187 organ(s), highest expression level in corpus callosum
CleanExiHS_PIGN
ExpressionAtlasiO95427 baseline and differential
GenevisibleiO95427 HS

Organism-specific databases

HPAiHPA039922
HPA040374

Interactioni

Protein-protein interaction databases

BioGridi117100, 33 interactors
IntActiO95427, 2 interactors
STRINGi9606.ENSP00000350263

Structurei

3D structure databases

ProteinModelPortaliO95427
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2124 Eukaryota
COG1524 LUCA
GeneTreeiENSGT00390000017600
HOGENOMiHOG000170818
HOVERGENiHBG082138
InParanoidiO95427
KOiK05285
OMAiGKPKSHL
OrthoDBiEOG091G02ZK
PhylomeDBiO95427
TreeFamiTF300506

Family and domain databases

CDDicd16020 GPI_EPT_1, 1 hit
Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017849 Alkaline_Pase-like_a/b/a
IPR017850 Alkaline_phosphatase_core_sf
IPR007070 GPI_EtnP_transferase_1
IPR017852 GPI_EtnP_transferase_1_C
IPR002591 Phosphodiest/P_Trfase
IPR037671 PIGN_N
PANTHERiPTHR12250 PTHR12250, 1 hit
PfamiView protein in Pfam
PF01663 Phosphodiest, 1 hit
PF04987 PigN, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 26 potential isoforms that are computationally mapped.Show allAlign All

O95427-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLLFFTLGLL IHFVFFASIF DIYFTSPLVH GMTPQFTPLP PPARRLVLFV
60 70 80 90 100
ADGLRADALY ELDENGNSRA PFIRNIIMHE GSWGISHTRV PTESRPGHVA
110 120 130 140 150
LIAGFYEDVS AVAKGWKENP VEFDSLFNES KYTWSWGSPD ILPMFAKGAS
160 170 180 190 200
GDHVYTYSYD AKREDFGAQD ATKLDTWVFD NVKDFFHHAR NNQSLFSKIN
210 220 230 240 250
EEKIVFFLHL LGIDTNGHAH RPSSRDYKHN IKKVDDGVKE IVSMFNHFYG
260 270 280 290 300
NDGKTTFIFT SDHGMTDWGS HGAGHPSETL TPLVTWGAGI KYPQRVSAQQ
310 320 330 340 350
FDDAFLKEWR LENWKRLDVN QADIAPLMTS LIGVPFPLNS VGILPVDYLN
360 370 380 390 400
NTDLFKAESM FTNAVQILEQ FKVKMTQKKE VTLPFLFTPF KLLSDSKQFN
410 420 430 440 450
ILRKARSYIK HRKFDEVVSL CKELIHLALK GLSYYHTYDR FFLGVNVVIG
460 470 480 490 500
FVGWISYASL LIIKSHSNLI KGVSKEVKKP SHLLPCSFVA IGILVAFFLL
510 520 530 540 550
IQACPWTYYV YGLLPLPIWY AVLREFQVIQ DLVVSVLTYP LSHFVGYLLA
560 570 580 590 600
FTLGIEVLVL SFFYRYMLTA GLTAFAAWPF LTRLWTRAKM TSLSWTFFSL
610 620 630 640 650
LLAVFPLMPV VGRKPDISLV MGAGLLVLLL SLCVVTSLMK RKDSFIKEEL
660 670 680 690 700
LVHLLQVLST VLSMYVVYST QSSLLRKQGL PLMNQIISWA TLASSLVVPL
710 720 730 740 750
LSSPVLFQRL FSILLSLMST YLLLSTGYEA LFPLVLSCLM FVWINIEQET
760 770 780 790 800
LQQSGVCCKQ KLTSIQFSYN TDITQFRQLY LDDIRRAFFL VFFLVTAFFG
810 820 830 840 850
TGNIASINSF DLASVYCFLT VFSPFMMGAL MMWKILIPFV LVMCAFEAVQ
860 870 880 890 900
LTTQLSSKSL FLIVLVISDI MALHFFFLVK DYGSWLDIGT SISHYVIVMS
910 920 930
MTIFLVFLNG LAQLLTTKKL RLCGKPKSHF M
Length:931
Mass (Da):105,810
Last modified:May 1, 1999 - v1
Checksum:iD67B376EF7864C55
GO

Computationally mapped potential isoform sequencesi

There are 26 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ELE1K7ELE1_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
490Annotation score:
K7ESH9K7ESH9_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
198Annotation score:
K7EL34K7EL34_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
283Annotation score:
K7EPJ2K7EPJ2_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
391Annotation score:
K7EMD7K7EMD7_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
395Annotation score:
K7EID9K7EID9_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
140Annotation score:
A0A1W2PNQ8A0A1W2PNQ8_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
847Annotation score:
A0A1W2PPR7A0A1W2PPR7_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
797Annotation score:
A0A1W2PQA9A0A1W2PQA9_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
970Annotation score:
K7EJM6K7EJM6_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
143Annotation score:
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053573162K → E. Corresponds to variant dbSNP:rs17069506EnsemblClinVar.1
Natural variantiVAR_053574229H → D1 PublicationCorresponds to variant dbSNP:rs9320001EnsemblClinVar.1
Natural variantiVAR_053575469L → F. Corresponds to variant dbSNP:rs3862712Ensembl.1
Natural variantiVAR_053576470I → L. Corresponds to variant dbSNP:rs3862712Ensembl.1
Natural variantiVAR_066402709R → Q in MCAHS1. 1 PublicationCorresponds to variant dbSNP:rs397514475EnsemblClinVar.1
Natural variantiVAR_053577904F → C. Corresponds to variant dbSNP:rs34231046EnsemblClinVar.1
Natural variantiVAR_053578904F → L. Corresponds to variant dbSNP:rs34231046EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF109219 mRNA Translation: AAD11432.1
BC028363 mRNA Translation: AAH28363.1
AL137607 mRNA Translation: CAB70839.1
CCDSiCCDS45879.1
PIRiT46311
RefSeqiNP_036459.1, NM_012327.5
NP_789744.1, NM_176787.4
UniGeneiHs.157031

Genome annotation databases

EnsembliENST00000357637; ENSP00000350263; ENSG00000197563
ENST00000400334; ENSP00000383188; ENSG00000197563
ENST00000638936; ENSP00000492592; ENSG00000197563
ENST00000640050; ENSP00000492051; ENSG00000197563
ENST00000640145; ENSP00000491525; ENSG00000197563
ENST00000640252; ENSP00000492233; ENSG00000197563
ENST00000640876; ENSP00000491628; ENSG00000197563
GeneIDi23556
KEGGihsa:23556
UCSCiuc021ulb.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF109219 mRNA Translation: AAD11432.1
BC028363 mRNA Translation: AAH28363.1
AL137607 mRNA Translation: CAB70839.1
CCDSiCCDS45879.1
PIRiT46311
RefSeqiNP_036459.1, NM_012327.5
NP_789744.1, NM_176787.4
UniGeneiHs.157031

3D structure databases

ProteinModelPortaliO95427
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117100, 33 interactors
IntActiO95427, 2 interactors
STRINGi9606.ENSP00000350263

PTM databases

GlyConnecti1284
iPTMnetiO95427
PhosphoSitePlusiO95427
SwissPalmiO95427

Polymorphism and mutation databases

BioMutaiPIGN

Proteomic databases

EPDiO95427
MaxQBiO95427
PaxDbiO95427
PeptideAtlasiO95427
PRIDEiO95427
ProteomicsDBi50868

Protocols and materials databases

DNASUi23556
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357637; ENSP00000350263; ENSG00000197563
ENST00000400334; ENSP00000383188; ENSG00000197563
ENST00000638936; ENSP00000492592; ENSG00000197563
ENST00000640050; ENSP00000492051; ENSG00000197563
ENST00000640145; ENSP00000491525; ENSG00000197563
ENST00000640252; ENSP00000492233; ENSG00000197563
ENST00000640876; ENSP00000491628; ENSG00000197563
GeneIDi23556
KEGGihsa:23556
UCSCiuc021ulb.3 human

Organism-specific databases

CTDi23556
DisGeNETi23556
EuPathDBiHostDB:ENSG00000197563.9
GeneCardsiPIGN
HGNCiHGNC:8967 PIGN
HPAiHPA039922
HPA040374
MalaCardsiPIGN
MIMi606097 gene
614080 phenotype
neXtProtiNX_O95427
OpenTargetsiENSG00000197563
Orphaneti2059 Fryns syndrome
280633 Multiple congenital anomalies-hypotonia-seizures syndrome
PharmGKBiPA33298
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2124 Eukaryota
COG1524 LUCA
GeneTreeiENSGT00390000017600
HOGENOMiHOG000170818
HOVERGENiHBG082138
InParanoidiO95427
KOiK05285
OMAiGKPKSHL
OrthoDBiEOG091G02ZK
PhylomeDBiO95427
TreeFamiTF300506

Enzyme and pathway databases

UniPathwayi
UPA00196

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

Miscellaneous databases

ChiTaRSiPIGN human
GenomeRNAii23556
PROiPR:O95427
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197563 Expressed in 187 organ(s), highest expression level in corpus callosum
CleanExiHS_PIGN
ExpressionAtlasiO95427 baseline and differential
GenevisibleiO95427 HS

Family and domain databases

CDDicd16020 GPI_EPT_1, 1 hit
Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017849 Alkaline_Pase-like_a/b/a
IPR017850 Alkaline_phosphatase_core_sf
IPR007070 GPI_EtnP_transferase_1
IPR017852 GPI_EtnP_transferase_1_C
IPR002591 Phosphodiest/P_Trfase
IPR037671 PIGN_N
PANTHERiPTHR12250 PTHR12250, 1 hit
PfamiView protein in Pfam
PF01663 Phosphodiest, 1 hit
PF04987 PigN, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPIGN_HUMAN
AccessioniPrimary (citable) accession number: O95427
Secondary accession number(s): Q7L8F8, Q8TC01, Q9NT05
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: May 1, 1999
Last modified: November 7, 2018
This is version 129 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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