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Q5H8A4 (PIGG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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 2

EC=2.-.-.-
Alternative name(s):
GPI7 homolog
Short name=hGPI7
Phosphatidylinositol-glycan biosynthesis class G protein
Short name=PIG-G
Gene names
Name:PIGG
Synonyms:GPI7
ORF Names:UNQ1930/PRO4405
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length983 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 second mannose. Ref.1

Pathway

Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Subunit structure

Forms a complex with PIGF. PIGF is required to stabilize it. Competes with PIGO for the binding of PIGF.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.1.

Sequence similarities

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

Sequence caution

The sequence AAQ88902.1 differs from that shown. Reason: Erroneous termination at position 311. Translated as Gln.

The sequence BAA91046.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB55130.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5H8A4-1)

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: Q5H8A4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     437-444: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q5H8A4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     120-252: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q5H8A4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     430-463: YDIYSMMVGTVVVLEVLTLLLLSVPQALRRKAEL → FSPCSCSASHRHCTERLSWKSHCHLLGFLCSFIW
     464-983: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 5 (identifier: Q5H8A4-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: Missing.
     372-388: DPGFEQFKMSERLHGNW → GSHPAPAQRPTGTAQKG
     389-983: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q5H8A4-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.
     430-463: YDIYSMMVGTVVVLEVLTLLLLSVPQALRRKAEL → FSPCSCSASHRHCAERLSWKSHCHLLGFLCSFIW
     464-983: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 983983GPI ethanolamine phosphate transferase 2
PRO_0000246185

Regions

Topological domain1 – 431431Lumenal Potential
Transmembrane432 – 45221Helical; Potential
Transmembrane471 – 49121Helical; Potential
Transmembrane506 – 52621Helical; Potential
Transmembrane552 – 57221Helical; Potential
Transmembrane699 – 71921Helical; Potential
Transmembrane721 – 74121Helical; Potential
Transmembrane752 – 77221Helical; Potential
Transmembrane789 – 80921Helical; Potential
Transmembrane812 – 83221Helical; Potential
Transmembrane879 – 89921Helical; Potential
Transmembrane919 – 93921Helical; Potential
Transmembrane955 – 97521Helical; Potential

Amino acid modifications

Glycosylation1941N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 122122Missing in isoform 6.
VSP_054387
Alternative sequence1 – 8989Missing in isoform 5.
VSP_019827
Alternative sequence120 – 252133Missing in isoform 3.
VSP_019828
Alternative sequence372 – 38817DPGFE…LHGNW → GSHPAPAQRPTGTAQKG in isoform 5.
VSP_019829
Alternative sequence389 – 983595Missing in isoform 5.
VSP_019830
Alternative sequence430 – 46334YDIYS…RKAEL → FSPCSCSASHRHCTERLSWK SHCHLLGFLCSFIW in isoform 4.
VSP_019831
Alternative sequence430 – 46334YDIYS…RKAEL → FSPCSCSASHRHCAERLSWK SHCHLLGFLCSFIW in isoform 6.
VSP_054388
Alternative sequence437 – 4448Missing in isoform 2.
VSP_019832
Alternative sequence464 – 983520Missing in isoform 4 and isoform 6.
VSP_019833
Natural variant551S → Y.
Corresponds to variant rs34120878 [ dbSNP | Ensembl ].
VAR_057680
Natural variant4581R → H. Ref.6
Corresponds to variant rs13115344 [ dbSNP | Ensembl ].
VAR_027022
Natural variant6101C → R. Ref.6
Corresponds to variant rs7666425 [ dbSNP | Ensembl ].
VAR_027023
Natural variant6991V → I. Ref.4 Ref.6
Corresponds to variant rs13114026 [ dbSNP | Ensembl ].
VAR_027024
Natural variant7311V → I.
Corresponds to variant rs34916638 [ dbSNP | Ensembl ].
VAR_060086
Natural variant8811I → T.
Corresponds to variant rs34623004 [ dbSNP | Ensembl ].
VAR_060087
Natural variant9321F → S.
Corresponds to variant rs1127410 [ dbSNP | Ensembl ].
VAR_027025

Experimental info

Sequence conflict6241D → G in BAC11227. Ref.3
Sequence conflict8891F → L in BAC11227. Ref.3

Sequences

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

Last modified March 1, 2005. Version 1.
Checksum: 18D5DF737B000D2D

FASTA983108,173
        10         20         30         40         50         60 
MRLGSGTFAT CCVAIEVLGI AVFLRGFFPA PVRSSARAEH GAEPPAPEPS AGASSNWTTL 

        70         80         90        100        110        120 
PPPLFSKVVI VLIDALRDDF VFGSKGVKFM PYTTYLVEKG ASHSFVAEAK PPTVTMPRIK 

       130        140        150        160        170        180 
ALMTGSLPGF VDVIRNLNSP ALLEDSVIRQ AKAAGKRIVF YGDETWVKLF PKHFVEYDGT 

       190        200        210        220        230        240 
TSFFVSDYTE VDNNVTRHLD KVLKRGDWDI LILHYLGLDH IGHISGPNSP LIGQKLSEMD 

       250        260        270        280        290        300 
SVLMKIHTSL QSKERETPLP NLLVLCGDHG MSETGSHGAS STEEVNTPLI LISSAFERKP 

       310        320        330        340        350        360 
GDIRHPKHVQ QTDVAATLAI ALGLPIPKDS VGSLLFPVVE GRPMREQLRF LHLNTVQLSK 

       370        380        390        400        410        420 
LLQENVPSYE KDPGFEQFKM SERLHGNWIR LYLEEKHSEV LFNLGSKVLR QYLDALKTLS 

       430        440        450        460        470        480 
LSLSAQVAQY DIYSMMVGTV VVLEVLTLLL LSVPQALRRK AELEVPLSSP GFSLLFYLVI 

       490        500        510        520        530        540 
LVLSAVHVIV CTSAESSCYF CGLSWLAAGG VMVLASALLC VIVSVLTNVL VGGNTPRKNP 

       550        560        570        580        590        600 
MHPSSRWSEL DLLILLGTAG HVLSLGASSF VEEEHQTWYF LVNTLCLALS QETYRNYFLG 

       610        620        630        640        650        660 
DDGEPPCGLC VEQGHDGATA AWQDGPGCDV LERDKGHGSP STSEVLRGRE KWMVLASPWL 

       670        680        690        700        710        720 
ILACCRLLRS LNQTGVQWAH RPDLGHWLTS SDHKAELSVL AALSLLVVFV LVQRGCSPVS 

       730        740        750        760        770        780 
KAALALGLLG VYCYRAAIGS VRFPWRPDSK DISKGIIEAR FVYVFVLGIL FTGTKDLLKS 

       790        800        810        820        830        840 
QVIAADFKLK TVGLWEIYSG LVLLAALLFR PHNLPVLAFS LLIQTLMTKF IWKPLRHDAA 

       850        860        870        880        890        900 
EITVMHYWFG QAFFYFQGNS NNIATVDISA GFVGLDTYVE IPAVLLTAFG TYAGPVLWAS 

       910        920        930        940        950        960 
HLVHFLSSET RSGSALSHAC FCYALICSIP VFTYIVLVTS LRYHLFIWSV FSPKLLYEGM 

       970        980 
HLLITAAVCV FFTAMDQTRL TQS 

« Hide

Isoform 2 [UniParc].

Checksum: 1D597136E243863E
Show »

FASTA975107,376
Isoform 3 [UniParc].

Checksum: 731AF8C6140D36C0
Show »

FASTA85093,251
Isoform 4 [UniParc].

Checksum: 02EDEEBFE96AC294
Show »

FASTA46351,267
Isoform 5 [UniParc].

Checksum: 73D96DB53EA11006
Show »

FASTA29932,913
Isoform 6 [UniParc].

Checksum: 9DC3B4F0B1EC6633
Show »

FASTA34138,290

References

« Hide 'large scale' references
[1]"GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol."
Shishioh N., Hong Y., Ohishi K., Ashida H., Maeda Y., Kinoshita T.
J. Biol. Chem. 280:9728-9734(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PIGF.
[2]"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 4).
[3]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 367-983 (ISOFORM 1), VARIANT ILE-699.
Tissue: Cervix, Colon mucosa, Teratocarcinoma and Thalamus.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 3), VARIANTS HIS-458; ARG-610 AND ILE-699.
Tissue: Lung and Placenta.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB162713 mRNA. Translation: BAD89023.1.
AY358538 mRNA. Translation: AAQ88902.1. Sequence problems.
AK074815 mRNA. Translation: BAC11227.1.
AK000272 mRNA. Translation: BAA91046.1. Different initiation.
AK027465 mRNA. Translation: BAB55130.1. Different initiation.
AK097244 mRNA. Translation: BAC04984.1.
AK296507 mRNA. Translation: BAG59139.1.
AC092574 Genomic DNA. No translation available.
AC116565 Genomic DNA. No translation available.
BC000937 mRNA. Translation: AAH00937.2.
BC001249 mRNA. Translation: AAH01249.2.
BC110878 mRNA. Translation: AAI10879.1.
CCDSCCDS3336.1. [Q5H8A4-2]
CCDS46992.1. [Q5H8A4-1]
RefSeqNP_001120650.1. NM_001127178.2. [Q5H8A4-1]
NP_001275980.1. NM_001289051.1.
NP_001275981.1. NM_001289052.1. [Q5H8A4-3]
NP_001275984.1. NM_001289055.1. [Q5H8A4-6]
NP_001275986.1. NM_001289057.1. [Q5H8A4-5]
NP_060203.3. NM_017733.4. [Q5H8A4-2]
UniGeneHs.7099.

3D structure databases

ProteinModelPortalQ5H8A4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120220. 4 interactions.
MINTMINT-3042035.

PTM databases

PhosphoSiteQ5H8A4.

Polymorphism databases

DMDM74707851.

Proteomic databases

MaxQBQ5H8A4.
PaxDbQ5H8A4.
PRIDEQ5H8A4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296306; ENSP00000296306; ENSG00000174227. [Q5H8A4-5]
ENST00000310340; ENSP00000311750; ENSG00000174227. [Q5H8A4-2]
ENST00000383028; ENSP00000372494; ENSG00000174227. [Q5H8A4-3]
ENST00000453061; ENSP00000415203; ENSG00000174227. [Q5H8A4-1]
ENST00000503111; ENSP00000426002; ENSG00000174227. [Q5H8A4-5]
ENST00000536264; ENSP00000439240; ENSG00000174227.
ENST00000608630; ENSP00000477115; ENSG00000272607. [Q5H8A4-5]
ENST00000608848; ENSP00000476904; ENSG00000272607. [Q5H8A4-5]
ENST00000609956; ENSP00000476441; ENSG00000272607. [Q5H8A4-2]
ENST00000609968; ENSP00000476666; ENSG00000272607. [Q5H8A4-1]
ENST00000610174; ENSP00000476513; ENSG00000272607. [Q5H8A4-3]
GeneID54872.
KEGGhsa:54872.
UCSCuc003gaj.4. human. [Q5H8A4-2]
uc003gak.4. human. [Q5H8A4-1]
uc003gam.3. human. [Q5H8A4-5]
uc010ibf.3. human. [Q5H8A4-3]

Organism-specific databases

CTD54872.
GeneCardsGC04P000486.
HGNCHGNC:25985. PIGG.
HPAHPA015997.
neXtProtNX_Q5H8A4.
PharmGKBPA143485575.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1524.
HOVERGENHBG075245.
InParanoidQ5H8A4.
KOK05310.
OMAQTWYFLV.
OrthoDBEOG7B8S35.
PhylomeDBQ5H8A4.
TreeFamTF300609.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00196.

Gene expression databases

ArrayExpressQ5H8A4.
BgeeQ5H8A4.
CleanExHS_PIGG.
GenevestigatorQ5H8A4.

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

GenomeRNAi54872.
NextBio35472752.
PROQ5H8A4.

Entry information

Entry namePIGG_HUMAN
AccessionPrimary (citable) accession number: Q5H8A4
Secondary accession number(s): B4DKC7 expand/collapse secondary AC list , Q2TAK5, Q6UX31, Q7L5Y4, Q8N866, Q8NCC9, Q96SY9, Q9BVT7, Q9NXG5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: March 1, 2005
Last modified: July 9, 2014
This is version 80 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

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

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 4

Human chromosome 4: entries, gene names and cross-references to MIM