UniProtKB - O95427 (PIGN_HUMAN)
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Protein
GPI ethanolamine phosphate transferase 1
Gene
PIGN
Organism
Homo sapiens (Human)
Status
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
: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
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
- GPI anchor biosynthetic process Source: GO_Central
- preassembly of GPI anchor in ER membrane Source: Reactome
Keywordsi
Molecular function | Transferase |
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
Reactomei | R-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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000197563.9. |
HGNCi | HGNC:8967. PIGN. |
MIMi | 606097. gene. |
neXtProti | NX_O95427. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 | CytoplasmicSequence analysis | 1 | |
Transmembranei | 2 – 24 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 25 – 442 | LumenalSequence analysisAdd BLAST | 418 | |
Transmembranei | 443 – 463 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 464 – 482 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 483 – 503 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 504 – 508 | LumenalSequence analysis | 5 | |
Transmembranei | 509 – 529 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 530 – 543 | CytoplasmicSequence analysisAdd BLAST | 14 | |
Transmembranei | 544 – 564 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 565 | LumenalSequence analysis | 1 | |
Transmembranei | 566 – 586 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 587 – 591 | CytoplasmicSequence analysis | 5 | |
Transmembranei | 592 – 612 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 613 – 618 | LumenalSequence analysis | 6 | |
Transmembranei | 619 – 639 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 640 – 649 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 650 – 670 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 671 – 685 | LumenalSequence analysisAdd BLAST | 15 | |
Transmembranei | 686 – 706 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 707 – 723 | CytoplasmicSequence analysisAdd BLAST | 17 | |
Transmembranei | 724 – 744 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 745 – 786 | LumenalSequence analysisAdd BLAST | 42 | |
Transmembranei | 787 – 807 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 808 – 824 | CytoplasmicSequence analysisAdd BLAST | 17 | |
Transmembranei | 825 – 845 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 846 – 858 | LumenalSequence analysisAdd BLAST | 13 | |
Transmembranei | 859 – 879 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 880 – 894 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 895 – 915 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 916 – 931 | LumenalSequence analysisAdd BLAST | 16 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & 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:614080Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066402 | 709 | R → Q in MCAHS1. 1 PublicationCorresponds to variant dbSNP:rs397514475Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 23556. |
MalaCardsi | PIGN. |
MIMi | 614080. phenotype. |
OpenTargetsi | ENSG00000197563. |
Orphaneti | 280633. Multiple congenital anomalies - hypotonia - seizures syndrome. |
PharmGKBi | PA33298. |
Polymorphism and mutation databases
BioMutai | PIGN. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000246198 | 1 – 931 | GPI ethanolamine phosphate transferase 1Add BLAST | 931 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 128 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 192 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 350 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | O95427. |
MaxQBi | O95427. |
PaxDbi | O95427. |
PeptideAtlasi | O95427. |
PRIDEi | O95427. |
PTM databases
iPTMneti | O95427. |
PhosphoSitePlusi | O95427. |
SwissPalmi | O95427. |
Expressioni
Gene expression databases
Bgeei | ENSG00000197563. |
CleanExi | HS_PIGN. |
ExpressionAtlasi | O95427. baseline and differential. |
Genevisiblei | O95427. HS. |
Organism-specific databases
HPAi | HPA039922. HPA040374. |
Interactioni
Protein-protein interaction databases
BioGridi | 117100. 33 interactors. |
IntActi | O95427. 2 interactors. |
STRINGi | 9606.ENSP00000350263. |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2124. Eukaryota. COG1524. LUCA. |
GeneTreei | ENSGT00390000017600. |
HOGENOMi | HOG000170818. |
HOVERGENi | HBG082138. |
InParanoidi | O95427. |
KOi | K05285. |
OMAi | HTYDRFF. |
OrthoDBi | EOG091G02ZK. |
PhylomeDBi | O95427. |
TreeFami | TF300506. |
Family and domain databases
CDDi | cd16020. GPI_EPT_1. 1 hit. |
Gene3Di | 3.40.720.10. 1 hit. |
InterProi | View 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. |
PANTHERi | PTHR12250. PTHR12250. 1 hit. |
Pfami | View protein in Pfam PF01663. Phosphodiest. 1 hit. PF04987. PigN. 1 hit. |
SUPFAMi | SSF53649. SSF53649. 1 hit. |
i Sequence
Sequence statusi: Complete.
O95427-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053573 | 162 | K → E. Corresponds to variant dbSNP:rs17069506Ensembl. | 1 | |
Natural variantiVAR_053574 | 229 | H → D1 PublicationCorresponds to variant dbSNP:rs9320001Ensembl. | 1 | |
Natural variantiVAR_053575 | 469 | L → F. Corresponds to variant dbSNP:rs3862712Ensembl. | 1 | |
Natural variantiVAR_053576 | 470 | I → L. Corresponds to variant dbSNP:rs3862712Ensembl. | 1 | |
Natural variantiVAR_066402 | 709 | R → Q in MCAHS1. 1 PublicationCorresponds to variant dbSNP:rs397514475Ensembl. | 1 | |
Natural variantiVAR_053577 | 904 | F → C. Corresponds to variant dbSNP:rs34231046Ensembl. | 1 | |
Natural variantiVAR_053578 | 904 | F → L. Corresponds to variant dbSNP:rs34231046Ensembl. | 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. |
CCDSi | CCDS45879.1. |
PIRi | T46311. |
RefSeqi | NP_036459.1. NM_012327.5. NP_789744.1. NM_176787.4. |
UniGenei | Hs.157031. |
Genome annotation databases
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Entry informationi
Entry namei | PIGN_HUMAN | |
Accessioni | O95427Primary (citable) accession number: O95427 Secondary accession number(s): Q7L8F8, Q8TC01, Q9NT05 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 25, 2006 |
Last sequence update: | May 1, 1999 | |
Last modified: | February 28, 2018 | |
This is version 125 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |