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O95427 (PIGN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
GPI ethanolamine phosphate transferase 1
EC=2.-.-.-
Alternative name(s):
MCD4 homolog
Phosphatidylinositol-glycan biosynthesis class N protein
Short name=PIG-N
Gene names
Name:PIGN
Synonyms:MCD4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length931 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Pathway

Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

Involvement in disease

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. Ref.4

Sequence similarities

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

Ontologies

Keywords
   Biological processGPI-anchor biosynthesis
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   Molecular functionTransferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processC-terminal protein lipidation

Traceable author statement. Source: Reactome

preassembly of GPI anchor in ER membrane

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functiontransferase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 931931GPI ethanolamine phosphate transferase 1
PRO_0000246198

Regions

Topological domain11Cytoplasmic Potential
Transmembrane2 – 2423Helical; Potential
Topological domain25 – 442418Lumenal Potential
Transmembrane443 – 46321Helical; Potential
Topological domain464 – 48219Cytoplasmic Potential
Transmembrane483 – 50321Helical; Potential
Topological domain504 – 5085Lumenal Potential
Transmembrane509 – 52921Helical; Potential
Topological domain530 – 54314Cytoplasmic Potential
Transmembrane544 – 56421Helical; Potential
Topological domain5651Lumenal Potential
Transmembrane566 – 58621Helical; Potential
Topological domain587 – 5915Cytoplasmic Potential
Transmembrane592 – 61221Helical; Potential
Topological domain613 – 6186Lumenal Potential
Transmembrane619 – 63921Helical; Potential
Topological domain640 – 64910Cytoplasmic Potential
Transmembrane650 – 67021Helical; Potential
Topological domain671 – 68515Lumenal Potential
Transmembrane686 – 70621Helical; Potential
Topological domain707 – 72317Cytoplasmic Potential
Transmembrane724 – 74421Helical; Potential
Topological domain745 – 78642Lumenal Potential
Transmembrane787 – 80721Helical; Potential
Topological domain808 – 82417Cytoplasmic Potential
Transmembrane825 – 84521Helical; Potential
Topological domain846 – 85813Lumenal Potential
Transmembrane859 – 87921Helical; Potential
Topological domain880 – 89415Cytoplasmic Potential
Transmembrane895 – 91521Helical; Potential
Topological domain916 – 93116Lumenal Potential

Amino acid modifications

Glycosylation1281N-linked (GlcNAc...) Potential
Glycosylation1921N-linked (GlcNAc...) Potential
Glycosylation3501N-linked (GlcNAc...) Potential

Natural variations

Natural variant1621K → E.
Corresponds to variant rs17069506 [ dbSNP | Ensembl ].
VAR_053573
Natural variant2291H → D. Ref.2
Corresponds to variant rs9320001 [ dbSNP | Ensembl ].
VAR_053574
Natural variant4691L → F.
Corresponds to variant rs3862712 [ dbSNP | Ensembl ].
VAR_053575
Natural variant4701I → L.
Corresponds to variant rs3862712 [ dbSNP | Ensembl ].
VAR_053576
Natural variant7091R → Q in MCAHS1. Ref.4
VAR_066402
Natural variant9041F → C.
Corresponds to variant rs34231046 [ dbSNP | Ensembl ].
VAR_053577
Natural variant9041F → L.
Corresponds to variant rs34231046 [ dbSNP | Ensembl ].
VAR_053578

Sequences

Sequence LengthMass (Da)Tools
O95427 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: D67B376EF7864C55

FASTA931105,810
        10         20         30         40         50         60 
MLLFFTLGLL IHFVFFASIF DIYFTSPLVH GMTPQFTPLP PPARRLVLFV ADGLRADALY 

        70         80         90        100        110        120 
ELDENGNSRA PFIRNIIMHE GSWGISHTRV PTESRPGHVA LIAGFYEDVS AVAKGWKENP 

       130        140        150        160        170        180 
VEFDSLFNES KYTWSWGSPD ILPMFAKGAS GDHVYTYSYD AKREDFGAQD ATKLDTWVFD 

       190        200        210        220        230        240 
NVKDFFHHAR NNQSLFSKIN EEKIVFFLHL LGIDTNGHAH RPSSRDYKHN IKKVDDGVKE 

       250        260        270        280        290        300 
IVSMFNHFYG NDGKTTFIFT SDHGMTDWGS HGAGHPSETL TPLVTWGAGI KYPQRVSAQQ 

       310        320        330        340        350        360 
FDDAFLKEWR LENWKRLDVN QADIAPLMTS LIGVPFPLNS VGILPVDYLN NTDLFKAESM 

       370        380        390        400        410        420 
FTNAVQILEQ FKVKMTQKKE VTLPFLFTPF KLLSDSKQFN ILRKARSYIK HRKFDEVVSL 

       430        440        450        460        470        480 
CKELIHLALK GLSYYHTYDR FFLGVNVVIG FVGWISYASL LIIKSHSNLI KGVSKEVKKP 

       490        500        510        520        530        540 
SHLLPCSFVA IGILVAFFLL IQACPWTYYV YGLLPLPIWY AVLREFQVIQ DLVVSVLTYP 

       550        560        570        580        590        600 
LSHFVGYLLA FTLGIEVLVL SFFYRYMLTA GLTAFAAWPF LTRLWTRAKM TSLSWTFFSL 

       610        620        630        640        650        660 
LLAVFPLMPV VGRKPDISLV MGAGLLVLLL SLCVVTSLMK RKDSFIKEEL LVHLLQVLST 

       670        680        690        700        710        720 
VLSMYVVYST QSSLLRKQGL PLMNQIISWA TLASSLVVPL LSSPVLFQRL FSILLSLMST 

       730        740        750        760        770        780 
YLLLSTGYEA LFPLVLSCLM FVWINIEQET LQQSGVCCKQ KLTSIQFSYN TDITQFRQLY 

       790        800        810        820        830        840 
LDDIRRAFFL VFFLVTAFFG TGNIASINSF DLASVYCFLT VFSPFMMGAL MMWKILIPFV 

       850        860        870        880        890        900 
LVMCAFEAVQ LTTQLSSKSL FLIVLVISDI MALHFFFLVK DYGSWLDIGT SISHYVIVMS 

       910        920        930 
MTIFLVFLNG LAQLLTTKKL RLCGKPKSHF M

« Hide

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 107-931.
Tissue: Testis.
[4]"Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN."
Maydan G., Noyman I., Har-Zahav A., Neriah Z.B., Pasmanik-Chor M., Yeheskel A., Albin-Kaplanski A., Maya I., Magal N., Birk E., Simon A.J., Halevy A., Rechavi G., Shohat M., Straussberg R., Basel-Vanagaite L.
J. Med. Genet. 48:383-389(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCAHS1 GLN-709.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AF109219 mRNA. Translation: AAD11432.1.
BC028363 mRNA. Translation: AAH28363.1.
AL137607 mRNA. Translation: CAB70839.1.
IPIIPI00017598.
PIRT46311.
RefSeqNP_036459.1. NM_012327.5.
NP_789744.1. NM_176787.4.
UniGeneHs.157031.

3D structure databases

ProteinModelPortalO95427.
ModBaseSearch...

Protein-protein interaction databases

IntActO95427. 2 interactions.
STRING9606.ENSP00000350263.

PTM databases

PhosphoSiteO95427.

Proteomic databases

PaxDbO95427.
PRIDEO95427.

Protocols and materials databases

DNASU23556.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357637; ENSP00000350263; ENSG00000197563.
ENST00000400334; ENSP00000383188; ENSG00000197563.
GeneID23556.
KEGGhsa:23556.
UCSCuc021ulb.1. human.

Organism-specific databases

CTD23556.
GeneCardsGC18M059684.
HGNCHGNC:8967. PIGN.
HPAHPA039922.
HPA040374.
MIM606097. gene.
614080. phenotype.
neXtProtNX_O95427.
Orphanet280633. Multiple congenital anomalies - hypotonia - seizures syndrome.
PharmGKBPA33298.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1524.
HOGENOMHOG000170818.
HOVERGENHBG082138.
InParanoidO95427.
KOK05285.
OMAEQFKVKM.
OrthoDBEOG4MPHPG.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00196.

Gene expression databases

BgeeO95427.
CleanExHS_PIGN.
GenevestigatorO95427.
GermOnlineENSG00000197563. Homo sapiens.

Family and domain databases

Gene3D3.40.720.10. 1 hit.
InterProIPR017849. 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]
PANTHERPTHR12250. PTHR12250. 1 hit.
PfamPF01663. Phosphodiest. 1 hit.
PF04987. PigN. 1 hit.
[Graphical view]
SUPFAMSSF53649. Alkaline_phosphatase_core. 1 hit.
ProtoNetSearch...

Other

ChiTaRSPIGN. human.
GenomeRNAi23556.
NextBio46124.
SOURCESearch...

Entry information

Entry namePIGN_HUMAN
AccessionPrimary (citable) accession number: O95427
Secondary accession number(s): Q7L8F8, Q8TC01, Q9NT05
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: May 1, 1999
Last modified: May 1, 2013
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents