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Q8TEQ8

- PIGO_HUMAN

UniProt

Q8TEQ8 - PIGO_HUMAN

Protein

GPI ethanolamine phosphate transferase 3

Gene

PIGO

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 3 (15 Mar 2005)
      Previous versions | rss
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    Functioni

    Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond By similarity.By similarity

    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. GPI anchor biosynthetic process Source: UniProtKB
    4. post-translational protein modification Source: Reactome
    5. 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 3 (EC:2.-.-.-)
    Alternative name(s):
    Phosphatidylinositol-glycan biosynthesis class O protein
    Short name:
    PIG-O
    Gene namesi
    Name:PIGO
    ORF Names:UNQ632/PRO1249
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:23215. PIGO.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]: An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti957 – 9571L → F in HPMRS2. 1 Publication
    VAR_068809

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi614749. phenotype.
    Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
    PharmGKBiPA134993507.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10891089GPI ethanolamine phosphate transferase 3PRO_0000058438Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi268 – 2681N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8TEQ8.
    PaxDbiQ8TEQ8.
    PRIDEiQ8TEQ8.

    PTM databases

    PhosphoSiteiQ8TEQ8.

    Expressioni

    Gene expression databases

    BgeeiQ8TEQ8.
    CleanExiHS_PIGO.
    GenevestigatoriQ8TEQ8.

    Organism-specific databases

    HPAiHPA014905.

    Interactioni

    Subunit structurei

    Forms a complex with PIGF. PIGF is required to stabilize PIGO By similarity.By similarity

    Protein-protein interaction databases

    BioGridi124223. 2 interactions.
    STRINGi9606.ENSP00000339382.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TEQ8.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4 – 2421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei457 – 47721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei482 – 50221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei510 – 53021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei541 – 56121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei575 – 59521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei668 – 68821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei701 – 72121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei747 – 76721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei830 – 85021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei857 – 87721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei944 – 96421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1014 – 103421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1048 – 106821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1524.
    HOVERGENiHBG031821.
    InParanoidiQ8TEQ8.
    KOiK05288.
    OMAiGDHGMTM.
    OrthoDBiEOG7XH6P8.
    PhylomeDBiQ8TEQ8.
    TreeFamiTF354249.

    Family and domain databases

    Gene3Di3.40.720.10. 1 hit.
    InterProiIPR017849. Alkaline_Pase-like_a/b/a.
    IPR017850. Alkaline_phosphatase_core.
    IPR002591. Phosphodiest/P_Trfase.
    [Graphical view]
    PfamiPF01663. Phosphodiest. 1 hit.
    [Graphical view]
    SUPFAMiSSF53649. SSF53649. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q8TEQ8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQKASVLLFL AWVCFLFYAG IALFTSGFLL TRLELTNHSS CQEPPGPGSL     50
    PWGSQGKPGA CWMASRFSRV VLVLIDALRF DFAQPQHSHV PREPPVSLPF 100
    LGKLSSLQRI LEIQPHHARL YRSQVDPPTT TMQRLKALTT GSLPTFIDAG 150
    SNFASHAIVE DNLIKQLTSA GRRVVFMGDD TWKDLFPGAF SKAFFFPSFN 200
    VRDLDTVDNG ILEHLYPTMD SGEWDVLIAH FLGVDHCGHK HGPHHPEMAK 250
    KLSQMDQVIQ GLVERLENDT LLVVAGDHGM TTNGDHGGDS ELEVSAALFL 300
    YSPTAVFPST PPEEPEVIPQ VSLVPTLALL LGLPIPFGNI GEVMAELFSG 350
    GEDSQPHSSA LAQASALHLN AQQVSRFLHT YSAATQDLQA KELHQLQNLF 400
    SKASADYQWL LQSPKGAEAT LPTVIAELQQ FLRGARAMCI ESWARFSLVR 450
    MAGGTALLAA SCFICLLASQ WAISPGFPFC PLLLTPVAWG LVGAIAYAGL 500
    LGTIELKLDL VLLGAVAAVS SFLPFLWKAW AGWGSKRPLA TLFPIPGPVL 550
    LLLLFRLAVF FSDSFVVAEA RATPFLLGSF ILLLVVQLHW EGQLLPPKLL 600
    TMPRLGTSAT TNPPRHNGAY ALRLGIGLLL CTRLAGLFHR CPEETPVCHS 650
    SPWLSPLASM VGGRAKNLWY GACVAALVAL LAAVRLWLRR YGNLKSPEPP 700
    MLFVRWGLPL MALGTAAYWA LASGADEAPP RLRVLVSGAS MVLPRAVAGL 750
    AASGLALLLW KPVTVLVKAG AGAPRTRTVL TPFSGPPTSQ ADLDYVVPQI 800
    YRHMQEEFRG RLERTKSQGP LTVAAYQLGS VYSAAMVTAL TLLAFPLLLL 850
    HAERISLVFL LLFLQSFLLL HLLAAGIPVT TPGPFTVPWQ AVSAWALMAT 900
    QTFYSTGHQP VFPAIHWHAA FVGFPEGHGS CTWLPALLVG ANTFASHLLF 950
    AVGCPLLLLW PFLCESQGLR KRQQPPGNEA DARVRPEEEE EPLMEMRLRD 1000
    APQHFYAALL QLGLKYLFIL GIQILACALA ASILRRHLMV WKVFAPKFIF 1050
    EAVGFIVSSV GLLLGIALVM RVDGAVSSWF RQLFLAQQR 1089
    Length:1,089
    Mass (Da):118,699
    Last modified:March 15, 2005 - v3
    Checksum:i0F47404F6FAD50B6
    GO
    Isoform 2 (identifier: Q8TEQ8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         449-865: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:672
    Mass (Da):73,992
    Checksum:iEF2958613DFFC47A
    GO

    Sequence cautioni

    The sequence BAB84890.1 differs from that shown. Reason: Frameshift at several positions.
    The sequence BAC03414.1 differs from that shown. Reason: Frameshift at several positions.
    The sequence CAD38806.1 differs from that shown. Reason: Frameshift at position 46.
    The sequence AAH01030.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH13987.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAC07985.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti179 – 1813DDT → ARG in AAH13987. (PubMed:15489334)Curated
    Sequence conflicti225 – 2317DVLIAHF → EVSNQHV in AAH01030. (PubMed:15489334)Curated
    Sequence conflicti350 – 3501G → W in AAH29271. (PubMed:15489334)Curated
    Sequence conflicti353 – 3531D → Y in AAH29271. (PubMed:15489334)Curated
    Sequence conflicti415 – 4162KG → R in CAD38806. (PubMed:17974005)Curated
    Sequence conflicti884 – 96986PFTVP…ESQGL → KYLSSDSLKDNSDVSSAPLV FKEVLLLMFLSLTEGPMPHT TRKVFLVSSLLPAIAKQIDP SCWFPGFMERRDKESSKTPC GNAASS in BAB89338. (PubMed:12044878)CuratedAdd
    BLAST

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti130 – 1301T → N Found in a patient with epileptic encephalopathy; unknown pathological significance. 1 Publication
    VAR_071074
    Natural varianti686 – 6861L → M in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036332
    Natural varianti957 – 9571L → F in HPMRS2. 1 Publication
    VAR_068809

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei449 – 865417Missing in isoform 2. 1 PublicationVSP_003944Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL833956 mRNA. Translation: CAD38806.1. Frameshift.
    AK074064 mRNA. Translation: BAB84890.1. Frameshift.
    AK090433 mRNA. Translation: BAC03414.1. Frameshift.
    AY358472 mRNA. Translation: AAQ88836.1.
    AC004472 Genomic DNA. Translation: AAC07985.1. Sequence problems.
    AL353795 Genomic DNA. Translation: CAH70995.2.
    AL353795 Genomic DNA. Translation: CAH70996.1.
    CH471071 Genomic DNA. Translation: EAW58397.1.
    BC001030 mRNA. Translation: AAH01030.1. Different initiation.
    BC013987 mRNA. Translation: AAH13987.1. Different initiation.
    BC029271 mRNA. Translation: AAH29271.1.
    BC036916 mRNA. Translation: AAH36916.1.
    BC065282 mRNA. Translation: AAH65282.1.
    AB083625 Genomic DNA. Translation: BAB89338.1.
    CCDSiCCDS6575.1. [Q8TEQ8-1]
    CCDS6576.1. [Q8TEQ8-2]
    PIRiT02245.
    RefSeqiNP_001188413.1. NM_001201484.1. [Q8TEQ8-2]
    NP_116023.2. NM_032634.3. [Q8TEQ8-1]
    NP_690577.2. NM_152850.3. [Q8TEQ8-2]
    XP_005251676.1. XM_005251619.1. [Q8TEQ8-1]
    UniGeneiHs.522099.
    Hs.735712.

    Genome annotation databases

    EnsembliENST00000298004; ENSP00000298004; ENSG00000165282. [Q8TEQ8-2]
    ENST00000361778; ENSP00000354678; ENSG00000165282. [Q8TEQ8-2]
    ENST00000378617; ENSP00000367880; ENSG00000165282. [Q8TEQ8-1]
    GeneIDi84720.
    KEGGihsa:84720.
    UCSCiuc003zwd.3. human. [Q8TEQ8-1]
    uc003zwe.3. human. [Q8TEQ8-2]

    Polymorphism databases

    DMDMi61252289.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL833956 mRNA. Translation: CAD38806.1 . Frameshift.
    AK074064 mRNA. Translation: BAB84890.1 . Frameshift.
    AK090433 mRNA. Translation: BAC03414.1 . Frameshift.
    AY358472 mRNA. Translation: AAQ88836.1 .
    AC004472 Genomic DNA. Translation: AAC07985.1 . Sequence problems.
    AL353795 Genomic DNA. Translation: CAH70995.2 .
    AL353795 Genomic DNA. Translation: CAH70996.1 .
    CH471071 Genomic DNA. Translation: EAW58397.1 .
    BC001030 mRNA. Translation: AAH01030.1 . Different initiation.
    BC013987 mRNA. Translation: AAH13987.1 . Different initiation.
    BC029271 mRNA. Translation: AAH29271.1 .
    BC036916 mRNA. Translation: AAH36916.1 .
    BC065282 mRNA. Translation: AAH65282.1 .
    AB083625 Genomic DNA. Translation: BAB89338.1 .
    CCDSi CCDS6575.1. [Q8TEQ8-1 ]
    CCDS6576.1. [Q8TEQ8-2 ]
    PIRi T02245.
    RefSeqi NP_001188413.1. NM_001201484.1. [Q8TEQ8-2 ]
    NP_116023.2. NM_032634.3. [Q8TEQ8-1 ]
    NP_690577.2. NM_152850.3. [Q8TEQ8-2 ]
    XP_005251676.1. XM_005251619.1. [Q8TEQ8-1 ]
    UniGenei Hs.522099.
    Hs.735712.

    3D structure databases

    ProteinModelPortali Q8TEQ8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124223. 2 interactions.
    STRINGi 9606.ENSP00000339382.

    PTM databases

    PhosphoSitei Q8TEQ8.

    Polymorphism databases

    DMDMi 61252289.

    Proteomic databases

    MaxQBi Q8TEQ8.
    PaxDbi Q8TEQ8.
    PRIDEi Q8TEQ8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298004 ; ENSP00000298004 ; ENSG00000165282 . [Q8TEQ8-2 ]
    ENST00000361778 ; ENSP00000354678 ; ENSG00000165282 . [Q8TEQ8-2 ]
    ENST00000378617 ; ENSP00000367880 ; ENSG00000165282 . [Q8TEQ8-1 ]
    GeneIDi 84720.
    KEGGi hsa:84720.
    UCSCi uc003zwd.3. human. [Q8TEQ8-1 ]
    uc003zwe.3. human. [Q8TEQ8-2 ]

    Organism-specific databases

    CTDi 84720.
    GeneCardsi GC09M035088.
    HGNCi HGNC:23215. PIGO.
    HPAi HPA014905.
    MIMi 614730. gene.
    614749. phenotype.
    neXtProti NX_Q8TEQ8.
    Orphaneti 247262. Hyperphosphatasia-intellectual disability syndrome.
    PharmGKBi PA134993507.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1524.
    HOVERGENi HBG031821.
    InParanoidi Q8TEQ8.
    KOi K05288.
    OMAi GDHGMTM.
    OrthoDBi EOG7XH6P8.
    PhylomeDBi Q8TEQ8.
    TreeFami TF354249.

    Enzyme and pathway databases

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

    Miscellaneous databases

    GenomeRNAii 84720.
    NextBioi 74822.
    PROi Q8TEQ8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8TEQ8.
    CleanExi HS_PIGO.
    Genevestigatori Q8TEQ8.

    Family and domain databases

    Gene3Di 3.40.720.10. 1 hit.
    InterProi IPR017849. Alkaline_Pase-like_a/b/a.
    IPR017850. Alkaline_phosphatase_core.
    IPR002591. Phosphodiest/P_Trfase.
    [Graphical view ]
    Pfami PF01663. Phosphodiest. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53649. SSF53649. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    2. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
      Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Spleen.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORMS 1 AND 2).
      Tissue: Duodenum, Eye and Lung.
    8. "Identification of G protein-coupled receptor genes from the human genome sequence."
      Takeda S., Kadowaki S., Haga T., Takaesu H., Mitaku S.
      FEBS Lett. 520:97-101(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 601-968.
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-686.
    10. "Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation."
      Krawitz P.M., Murakami Y., Hecht J., Kruger U., Holder S.E., Mortier G.R., Delle Chiaie B., De Baere E., Thompson M.D., Roscioli T., Kielbasa S., Kinoshita T., Mundlos S., Robinson P.N., Horn D.
      Am. J. Hum. Genet. 91:146-151(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HPMRS2 PHE-957.
    11. "PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels."
      Nakamura K., Osaka H., Murakami Y., Anzai R., Nishiyama K., Kodera H., Nakashima M., Tsurusaki Y., Miyake N., Kinoshita T., Matsumoto N., Saitsu H.
      Epilepsia 55:E13-E17(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASN-130.

    Entry informationi

    Entry nameiPIGO_HUMAN
    AccessioniPrimary (citable) accession number: Q8TEQ8
    Secondary accession number(s): B1AML3
    , Q6P154, Q6UX80, Q8TDS8, Q96CS9, Q9BVN9, Q9Y4B0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 13, 2002
    Last sequence update: March 15, 2005
    Last modified: October 1, 2014
    This is version 116 of the entry and version 3 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 9
      Human chromosome 9: 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