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O95427

- PIGN_HUMAN

UniProt

O95427 - PIGN_HUMAN

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Protein

GPI ethanolamine phosphate transferase 1

Gene

PIGN

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.By similarity1 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 – 11CytoplasmicSequence Analysis
Transmembranei2 – 2423HelicalSequence AnalysisAdd
BLAST
Topological domaini25 – 442418LumenalSequence AnalysisAdd
BLAST
Transmembranei443 – 46321HelicalSequence AnalysisAdd
BLAST
Topological domaini464 – 48219CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei483 – 50321HelicalSequence AnalysisAdd
BLAST
Topological domaini504 – 5085LumenalSequence Analysis
Transmembranei509 – 52921HelicalSequence AnalysisAdd
BLAST
Topological domaini530 – 54314CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei544 – 56421HelicalSequence AnalysisAdd
BLAST
Topological domaini565 – 5651LumenalSequence Analysis
Transmembranei566 – 58621HelicalSequence AnalysisAdd
BLAST
Topological domaini587 – 5915CytoplasmicSequence Analysis
Transmembranei592 – 61221HelicalSequence AnalysisAdd
BLAST
Topological domaini613 – 6186LumenalSequence Analysis
Transmembranei619 – 63921HelicalSequence AnalysisAdd
BLAST
Topological domaini640 – 64910CytoplasmicSequence Analysis
Transmembranei650 – 67021HelicalSequence AnalysisAdd
BLAST
Topological domaini671 – 68515LumenalSequence AnalysisAdd
BLAST
Transmembranei686 – 70621HelicalSequence AnalysisAdd
BLAST
Topological domaini707 – 72317CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei724 – 74421HelicalSequence AnalysisAdd
BLAST
Topological domaini745 – 78642LumenalSequence AnalysisAdd
BLAST
Transmembranei787 – 80721HelicalSequence AnalysisAdd
BLAST
Topological domaini808 – 82417CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei825 – 84521HelicalSequence AnalysisAdd
BLAST
Topological domaini846 – 85813LumenalSequence AnalysisAdd
BLAST
Transmembranei859 – 87921HelicalSequence AnalysisAdd
BLAST
Topological domaini880 – 89415CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei895 – 91521HelicalSequence AnalysisAdd
BLAST
Topological domaini916 – 93116LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  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

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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...)Sequence Analysis
Glycosylationi192 – 1921N-linked (GlcNAc...)Sequence Analysis
Glycosylationi350 – 3501N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO95427.
PaxDbiO95427.
PRIDEiO95427.

PTM databases

PhosphoSiteiO95427.

Expressioni

Gene expression databases

BgeeiO95427.
CleanExiHS_PIGN.
ExpressionAtlasiO95427. baseline and differential.
GenevestigatoriO95427.

Organism-specific databases

HPAiHPA039922.
HPA040374.

Interactioni

Protein-protein interaction databases

BioGridi117100. 5 interactions.
IntActiO95427. 2 interactions.
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

eggNOGiCOG1524.
GeneTreeiENSGT00390000017600.
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

        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)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:
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.
GeneIDi23556.
KEGGihsa:23556.
UCSCiuc021ulb.1. human.

Keywords - Coding sequence diversityi

Polymorphism

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 .
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. 5 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.
GeneTreei ENSGT00390000017600.
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

Bgeei O95427.
CleanExi HS_PIGN.
ExpressionAtlasi O95427. baseline and differential.
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: October 29, 2014
This is version 98 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