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O95427

- PIGN_HUMAN

UniProt

O95427 - PIGN_HUMAN

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Protein

GPI ethanolamine phosphate transferase 1

Gene
PIGN, MCD4
Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

Pathwayi

GO - Molecular functioni

  1. transferase activity Source: UniProtKB-KW

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. C-terminal protein lipidation Source: Reactome
  3. post-translational protein modification Source: Reactome
  4. preassembly of GPI anchor in ER membrane Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiREACT_952. 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:8967. PIGN.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 11Cytoplasmic Reviewed prediction
Transmembranei2 – 2423Helical; Reviewed predictionAdd
BLAST
Topological domaini25 – 442418Lumenal Reviewed predictionAdd
BLAST
Transmembranei443 – 46321Helical; Reviewed predictionAdd
BLAST
Topological domaini464 – 48219Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei483 – 50321Helical; Reviewed predictionAdd
BLAST
Topological domaini504 – 5085Lumenal Reviewed prediction
Transmembranei509 – 52921Helical; Reviewed predictionAdd
BLAST
Topological domaini530 – 54314Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei544 – 56421Helical; Reviewed predictionAdd
BLAST
Topological domaini565 – 5651Lumenal Reviewed prediction
Transmembranei566 – 58621Helical; Reviewed predictionAdd
BLAST
Topological domaini587 – 5915Cytoplasmic Reviewed prediction
Transmembranei592 – 61221Helical; Reviewed predictionAdd
BLAST
Topological domaini613 – 6186Lumenal Reviewed prediction
Transmembranei619 – 63921Helical; Reviewed predictionAdd
BLAST
Topological domaini640 – 64910Cytoplasmic Reviewed prediction
Transmembranei650 – 67021Helical; Reviewed predictionAdd
BLAST
Topological domaini671 – 68515Lumenal Reviewed predictionAdd
BLAST
Transmembranei686 – 70621Helical; Reviewed predictionAdd
BLAST
Topological domaini707 – 72317Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei724 – 74421Helical; Reviewed predictionAdd
BLAST
Topological domaini745 – 78642Lumenal Reviewed predictionAdd
BLAST
Transmembranei787 – 80721Helical; Reviewed predictionAdd
BLAST
Topological domaini808 – 82417Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei825 – 84521Helical; Reviewed predictionAdd
BLAST
Topological domaini846 – 85813Lumenal Reviewed predictionAdd
BLAST
Transmembranei859 – 87921Helical; Reviewed predictionAdd
BLAST
Topological domaini880 – 89415Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei895 – 91521Helical; Reviewed predictionAdd
BLAST
Topological domaini916 – 93116Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti709 – 7091R → Q in MCAHS1. 1 Publication
VAR_066402

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi614080. phenotype.
Orphaneti280633. Multiple congenital anomalies - hypotonia - seizures syndrome.
PharmGKBiPA33298.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 931931GPI ethanolamine phosphate transferase 1PRO_0000246198Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi128 – 1281N-linked (GlcNAc...) Reviewed prediction
Glycosylationi192 – 1921N-linked (GlcNAc...) Reviewed prediction
Glycosylationi350 – 3501N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO95427.
PaxDbiO95427.
PRIDEiO95427.

PTM databases

PhosphoSiteiO95427.

Expressioni

Gene expression databases

ArrayExpressiO95427.
BgeeiO95427.
CleanExiHS_PIGN.
GenevestigatoriO95427.

Organism-specific databases

HPAiHPA039922.
HPA040374.

Interactioni

Protein-protein interaction databases

BioGridi117100. 4 interactions.
IntActiO95427. 2 interactions.
STRINGi9606.ENSP00000350263.

Structurei

3D structure databases

ProteinModelPortaliO95427.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1524.
HOGENOMiHOG000170818.
HOVERGENiHBG082138.
InParanoidiO95427.
KOiK05285.
OMAiVLVMCAF.
OrthoDBiEOG7F7W83.
PhylomeDBiO95427.
TreeFamiTF300506.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. 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.
[Graphical view]
PANTHERiPTHR12250. PTHR12250. 1 hit.
PfamiPF01663. Phosphodiest. 1 hit.
PF04987. PigN. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.

Sequencei

Sequence statusi: Complete.

O95427-1 [UniParc]FASTAAdd to Basket

« Hide

MLLFFTLGLL IHFVFFASIF DIYFTSPLVH GMTPQFTPLP PPARRLVLFV    50
ADGLRADALY ELDENGNSRA PFIRNIIMHE GSWGISHTRV PTESRPGHVA 100
LIAGFYEDVS AVAKGWKENP VEFDSLFNES KYTWSWGSPD ILPMFAKGAS 150
GDHVYTYSYD AKREDFGAQD ATKLDTWVFD NVKDFFHHAR NNQSLFSKIN 200
EEKIVFFLHL LGIDTNGHAH RPSSRDYKHN IKKVDDGVKE IVSMFNHFYG 250
NDGKTTFIFT SDHGMTDWGS HGAGHPSETL TPLVTWGAGI KYPQRVSAQQ 300
FDDAFLKEWR LENWKRLDVN QADIAPLMTS LIGVPFPLNS VGILPVDYLN 350
NTDLFKAESM FTNAVQILEQ FKVKMTQKKE VTLPFLFTPF KLLSDSKQFN 400
ILRKARSYIK HRKFDEVVSL CKELIHLALK GLSYYHTYDR FFLGVNVVIG 450
FVGWISYASL LIIKSHSNLI KGVSKEVKKP SHLLPCSFVA IGILVAFFLL 500
IQACPWTYYV YGLLPLPIWY AVLREFQVIQ DLVVSVLTYP LSHFVGYLLA 550
FTLGIEVLVL SFFYRYMLTA GLTAFAAWPF LTRLWTRAKM TSLSWTFFSL 600
LLAVFPLMPV VGRKPDISLV MGAGLLVLLL SLCVVTSLMK RKDSFIKEEL 650
LVHLLQVLST VLSMYVVYST QSSLLRKQGL PLMNQIISWA TLASSLVVPL 700
LSSPVLFQRL FSILLSLMST YLLLSTGYEA LFPLVLSCLM FVWINIEQET 750
LQQSGVCCKQ KLTSIQFSYN TDITQFRQLY LDDIRRAFFL VFFLVTAFFG 800
TGNIASINSF DLASVYCFLT VFSPFMMGAL MMWKILIPFV LVMCAFEAVQ 850
LTTQLSSKSL FLIVLVISDI MALHFFFLVK DYGSWLDIGT SISHYVIVMS 900
MTIFLVFLNG LAQLLTTKKL RLCGKPKSHF M 931
Length:931
Mass (Da):105,810
Last modified:May 1, 1999 - v1
Checksum:iD67B376EF7864C55
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti162 – 1621K → E.
Corresponds to variant rs17069506 [ dbSNP | Ensembl ].
VAR_053573
Natural varianti229 – 2291H → D.1 Publication
Corresponds to variant rs9320001 [ dbSNP | Ensembl ].
VAR_053574
Natural varianti469 – 4691L → F.
Corresponds to variant rs3862712 [ dbSNP | Ensembl ].
VAR_053575
Natural varianti470 – 4701I → L.
Corresponds to variant rs3862712 [ dbSNP | Ensembl ].
VAR_053576
Natural varianti709 – 7091R → Q in MCAHS1. 1 Publication
VAR_066402
Natural varianti904 – 9041F → C.
Corresponds to variant rs34231046 [ dbSNP | Ensembl ].
VAR_053577
Natural varianti904 – 9041F → L.
Corresponds to variant rs34231046 [ dbSNP | Ensembl ].
VAR_053578

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
GeneIDi23556.
KEGGihsa:23556.
UCSCiuc021ulb.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

3D structure databases

ProteinModelPortali O95427.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117100. 4 interactions.
IntActi O95427. 2 interactions.
STRINGi 9606.ENSP00000350263.

PTM databases

PhosphoSitei O95427.

Proteomic databases

MaxQBi O95427.
PaxDbi O95427.
PRIDEi O95427.

Protocols and materials databases

DNASUi 23556.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357637 ; ENSP00000350263 ; ENSG00000197563 .
ENST00000400334 ; ENSP00000383188 ; ENSG00000197563 .
GeneIDi 23556.
KEGGi hsa:23556.
UCSCi uc021ulb.1. human.

Organism-specific databases

CTDi 23556.
GeneCardsi GC18M059684.
HGNCi HGNC:8967. PIGN.
HPAi HPA039922.
HPA040374.
MIMi 606097. gene.
614080. phenotype.
neXtProti NX_O95427.
Orphaneti 280633. Multiple congenital anomalies - hypotonia - seizures syndrome.
PharmGKBi PA33298.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1524.
HOGENOMi HOG000170818.
HOVERGENi HBG082138.
InParanoidi O95427.
KOi K05285.
OMAi VLVMCAF.
OrthoDBi EOG7F7W83.
PhylomeDBi O95427.
TreeFami TF300506.

Enzyme and pathway databases

UniPathwayi UPA00196 .
Reactomei REACT_952. Synthesis of glycosylphosphatidylinositol (GPI).

Miscellaneous databases

ChiTaRSi PIGN. human.
GenomeRNAii 23556.
NextBioi 46124.
PROi O95427.
SOURCEi Search...

Gene expression databases

ArrayExpressi O95427.
Bgeei O95427.
CleanExi HS_PIGN.
Genevestigatori O95427.

Family and domain databases

Gene3Di 3.40.720.10. 1 hit.
InterProi 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.
[Graphical view ]
PANTHERi PTHR12250. PTHR12250. 1 hit.
Pfami PF01663. Phosphodiest. 1 hit.
PF04987. PigN. 1 hit.
[Graphical view ]
SUPFAMi SSF53649. SSF53649. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast."
    Gaynor E.C., Mondesert G., Grimme S.J., Reed S.I., Orlean P., Emr S.D.
    Mol. Biol. Cell 10:627-648(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "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], VARIANT ASP-229.
    Tissue: Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 107-931.
    Tissue: Testis.
  4. Cited for: FUNCTION.
  5. Cited for: VARIANT MCAHS1 GLN-709.

Entry informationi

Entry nameiPIGN_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 96 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 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

External Data

Dasty 3

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