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UniProtKB - O95427 (PIGN_HUMAN)

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Protein

GPI ethanolamine phosphate transferase 1

Gene

PIGN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionTransferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).
UniPathwayiUPA00196.

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:8967. PIGN.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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:rs397514475Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi23556.
MalaCardsiPIGN.
MIMi614080. phenotype.
OpenTargetsiENSG00000197563.
Orphaneti280633. 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.

PTM databases

iPTMnetiO95427.
PhosphoSitePlusiO95427.
SwissPalmiO95427.

Expressioni

Gene expression databases

BgeeiENSG00000197563.
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.
OMAiHTYDRFF.
OrthoDBiEOG091G02ZK.
PhylomeDBiO95427.
TreeFamiTF300506.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053573162K → E. Corresponds to variant dbSNP:rs17069506Ensembl.1
Natural variantiVAR_053574229H → D1 PublicationCorresponds to variant dbSNP:rs9320001Ensembl.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:rs397514475Ensembl.1
Natural variantiVAR_053577904F → C. Corresponds to variant dbSNP:rs34231046Ensembl.1
Natural variantiVAR_053578904F → 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.
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

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: August 30, 2017
This is version 121 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. Human chromosome 18
    Human chromosome 18: 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