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O95427

- PIGN_HUMAN

UniProt

O95427 - PIGN_HUMAN

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
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 11CytoplasmicSequence Analysis
    Topological domaini25 – 442418LumenalSequence AnalysisAdd
    BLAST
    Topological domaini464 – 48219CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini504 – 5085LumenalSequence Analysis
    Topological domaini530 – 54314CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini565 – 5651LumenalSequence Analysis
    Topological domaini587 – 5915CytoplasmicSequence Analysis
    Topological domaini613 – 6186LumenalSequence Analysis
    Topological domaini640 – 64910CytoplasmicSequence Analysis
    Topological domaini671 – 68515LumenalSequence AnalysisAdd
    BLAST
    Topological domaini707 – 72317CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini745 – 78642LumenalSequence AnalysisAdd
    BLAST
    Topological domaini808 – 82417CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini846 – 85813LumenalSequence AnalysisAdd
    BLAST
    Topological domaini880 – 89415CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini916 – 93116LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2 – 2423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei443 – 46321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei483 – 50321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei509 – 52921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei544 – 56421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei566 – 58621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei592 – 61221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei619 – 63921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei650 – 67021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei686 – 70621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei724 – 74421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei787 – 80721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei825 – 84521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei859 – 87921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei895 – 91521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

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

    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

    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 1, 2014
    This is version 97 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