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Q8TEQ8 (PIGO_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
GPI ethanolamine phosphate transferase 3

EC=2.-.-.-
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class O protein
Short name=PIG-O
Gene names
Name:PIGO
ORF Names:UNQ632/PRO1249
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1089 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 GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond By similarity.

Pathway

Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Subunit structure

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

Subcellular location

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

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

Sequence caution

The sequence AAC07985.1 differs from that shown. Reason: Erroneous gene model prediction.

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 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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q8TEQ8-1)

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.
Isoform 2 (identifier: Q8TEQ8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     449-865: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10891089GPI ethanolamine phosphate transferase 3
PRO_0000058438

Regions

Transmembrane4 – 2421Helical; Potential
Transmembrane457 – 47721Helical; Potential
Transmembrane482 – 50221Helical; Potential
Transmembrane510 – 53021Helical; Potential
Transmembrane541 – 56121Helical; Potential
Transmembrane575 – 59521Helical; Potential
Transmembrane668 – 68821Helical; Potential
Transmembrane701 – 72121Helical; Potential
Transmembrane747 – 76721Helical; Potential
Transmembrane830 – 85021Helical; Potential
Transmembrane857 – 87721Helical; Potential
Transmembrane944 – 96421Helical; Potential
Transmembrane1014 – 103421Helical; Potential
Transmembrane1048 – 106821Helical; Potential

Amino acid modifications

Glycosylation2681N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence449 – 865417Missing in isoform 2.
VSP_003944
Natural variant6861L → M in a colorectal cancer sample; somatic mutation. Ref.9
VAR_036332
Natural variant9571L → F in HPMRS2. Ref.10
VAR_068809

Experimental info

Sequence conflict179 – 1813DDT → ARG in AAH13987. Ref.7
Sequence conflict225 – 2317DVLIAHF → EVSNQHV in AAH01030. Ref.7
Sequence conflict3501G → W in AAH29271. Ref.7
Sequence conflict3531D → Y in AAH29271. Ref.7
Sequence conflict415 – 4162KG → R in CAD38806. Ref.1
Sequence conflict884 – 96986PFTVP…ESQGL → KYLSSDSLKDNSDVSSAPLV FKEVLLLMFLSLTEGPMPHT TRKVFLVSSLLPAIAKQIDP SCWFPGFMERRDKESSKTPC GNAASS in BAB89338. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 15, 2005. Version 3.
Checksum: 0F47404F6FAD50B6

FASTA1,089118,699
        10         20         30         40         50         60 
MQKASVLLFL AWVCFLFYAG IALFTSGFLL TRLELTNHSS CQEPPGPGSL PWGSQGKPGA 

        70         80         90        100        110        120 
CWMASRFSRV VLVLIDALRF DFAQPQHSHV PREPPVSLPF LGKLSSLQRI LEIQPHHARL 

       130        140        150        160        170        180 
YRSQVDPPTT TMQRLKALTT GSLPTFIDAG SNFASHAIVE DNLIKQLTSA GRRVVFMGDD 

       190        200        210        220        230        240 
TWKDLFPGAF SKAFFFPSFN VRDLDTVDNG ILEHLYPTMD SGEWDVLIAH FLGVDHCGHK 

       250        260        270        280        290        300 
HGPHHPEMAK KLSQMDQVIQ GLVERLENDT LLVVAGDHGM TTNGDHGGDS ELEVSAALFL 

       310        320        330        340        350        360 
YSPTAVFPST PPEEPEVIPQ VSLVPTLALL LGLPIPFGNI GEVMAELFSG GEDSQPHSSA 

       370        380        390        400        410        420 
LAQASALHLN AQQVSRFLHT YSAATQDLQA KELHQLQNLF SKASADYQWL LQSPKGAEAT 

       430        440        450        460        470        480 
LPTVIAELQQ FLRGARAMCI ESWARFSLVR MAGGTALLAA SCFICLLASQ WAISPGFPFC 

       490        500        510        520        530        540 
PLLLTPVAWG LVGAIAYAGL LGTIELKLDL VLLGAVAAVS SFLPFLWKAW AGWGSKRPLA 

       550        560        570        580        590        600 
TLFPIPGPVL LLLLFRLAVF FSDSFVVAEA RATPFLLGSF ILLLVVQLHW EGQLLPPKLL 

       610        620        630        640        650        660 
TMPRLGTSAT TNPPRHNGAY ALRLGIGLLL CTRLAGLFHR CPEETPVCHS SPWLSPLASM 

       670        680        690        700        710        720 
VGGRAKNLWY GACVAALVAL LAAVRLWLRR YGNLKSPEPP MLFVRWGLPL MALGTAAYWA 

       730        740        750        760        770        780 
LASGADEAPP RLRVLVSGAS MVLPRAVAGL AASGLALLLW KPVTVLVKAG AGAPRTRTVL 

       790        800        810        820        830        840 
TPFSGPPTSQ ADLDYVVPQI YRHMQEEFRG RLERTKSQGP LTVAAYQLGS VYSAAMVTAL 

       850        860        870        880        890        900 
TLLAFPLLLL HAERISLVFL LLFLQSFLLL HLLAAGIPVT TPGPFTVPWQ AVSAWALMAT 

       910        920        930        940        950        960 
QTFYSTGHQP VFPAIHWHAA FVGFPEGHGS CTWLPALLVG ANTFASHLLF AVGCPLLLLW 

       970        980        990       1000       1010       1020 
PFLCESQGLR KRQQPPGNEA DARVRPEEEE EPLMEMRLRD APQHFYAALL QLGLKYLFIL 

      1030       1040       1050       1060       1070       1080 
GIQILACALA ASILRRHLMV WKVFAPKFIF EAVGFIVSSV GLLLGIALVM RVDGAVSSWF 


RQLFLAQQR 

« Hide

Isoform 2 [UniParc].

Checksum: EF2958613DFFC47A
Show »

FASTA67273,992

References

« Hide 'large scale' references
[1]"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] (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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Sequence analysis of a human P1 clone containing the XRCC9 DNA repair gene."
Lamerdin J.E., McCready P.M., Skowronski E., Adamson A.W., Burkhart-Schultz K., Gordon L., Kyle A., Ramirez M., Stilwagen S., Phan H., Velasco N., Garnes J., Danganan L., Poundstone P., Christensen M., Georgescu A., Avila J., Liu S. expand/collapse author list , Attix C., Andreise T., Trankheim M., Amico-Keller G., Coefield J., Duarte S., Lucas S., Bruce R., Thomas P., Quan G., Kronmiller B., Arellano A., Montgomery M., Ow D., Nolan M., Trong S., Kobayashi A., Olsen A.O., Carrano A.V.
Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS6575.1. [Q8TEQ8-1]
CCDS6576.1. [Q8TEQ8-2]
PIRT02245.
RefSeqNP_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]
UniGeneHs.522099.
Hs.735712.

3D structure databases

ProteinModelPortalQ8TEQ8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124223. 2 interactions.
STRING9606.ENSP00000339382.

PTM databases

PhosphoSiteQ8TEQ8.

Polymorphism databases

DMDM61252289.

Proteomic databases

MaxQBQ8TEQ8.
PaxDbQ8TEQ8.
PRIDEQ8TEQ8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298004; ENSP00000298004; ENSG00000165282. [Q8TEQ8-2]
ENST00000341666; ENSP00000339382; ENSG00000165282. [Q8TEQ8-1]
ENST00000361778; ENSP00000354678; ENSG00000165282. [Q8TEQ8-2]
ENST00000378617; ENSP00000367880; ENSG00000165282. [Q8TEQ8-1]
GeneID84720.
KEGGhsa:84720.
UCSCuc003zwd.3. human. [Q8TEQ8-1]
uc003zwe.3. human. [Q8TEQ8-2]

Organism-specific databases

CTD84720.
GeneCardsGC09M035088.
HGNCHGNC:23215. PIGO.
HPAHPA014905.
MIM614730. gene.
614749. phenotype.
neXtProtNX_Q8TEQ8.
Orphanet247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBPA134993507.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1524.
HOVERGENHBG031821.
InParanoidQ8TEQ8.
KOK05288.
OMAGDHGMTM.
OrthoDBEOG7XH6P8.
PhylomeDBQ8TEQ8.
TreeFamTF354249.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00196.

Gene expression databases

BgeeQ8TEQ8.
CleanExHS_PIGO.
GenevestigatorQ8TEQ8.

Family and domain databases

Gene3D3.40.720.10. 1 hit.
InterProIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR002591. Phosphodiest/P_Trfase.
[Graphical view]
PfamPF01663. Phosphodiest. 1 hit.
[Graphical view]
SUPFAMSSF53649. SSF53649. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi84720.
NextBio74822.
PROQ8TEQ8.
SOURCESearch...

Entry information

Entry namePIGO_HUMAN
AccessionPrimary (citable) accession number: Q8TEQ8
Secondary accession number(s): B1AML3 expand/collapse secondary AC list , Q6P154, Q6UX80, Q8TDS8, Q96CS9, Q9BVN9, Q9Y4B0
Entry history
Integrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: March 15, 2005
Last modified: July 9, 2014
This is version 114 of the entry and version 3 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

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM