PIGF_HUMAN
ID PIGF_HUMAN Reviewed; 219 AA.
AC Q07326; Q8WW20;
DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1995, sequence version 1.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Phosphatidylinositol-glycan biosynthesis class F protein;
DE Short=PIG-F;
DE AltName: Full=GPI11 homolog;
GN Name=PIGF;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=8463218; DOI=10.1016/s0021-9258(18)53122-7;
RA Inoue N., Kinoshita T., Orii T., Takeda J.;
RT "Cloning of a human gene, PIG-F, a component of
RT glycosylphosphatidylinositol anchor biosynthesis, by a novel expression
RT cloning strategy.";
RL J. Biol. Chem. 268:6882-6885(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP INTERACTION WITH PIGG.
RX PubMed=15632136; DOI=10.1074/jbc.m413755200;
RA Shishioh N., Hong Y., Ohishi K., Ashida H., Maeda Y., Kinoshita T.;
RT "GPI7 is the second partner of PIG-F and involved in modification of
RT glycosylphosphatidylinositol.";
RL J. Biol. Chem. 280:9728-9734(2005).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [5]
RP INVOLVEMENT IN OORS, FUNCTION, VARIANT OORS ARG-172, AND CHARACTERIZATION
RP OF VARIANT OORS ARG-172.
RX PubMed=33386993; DOI=10.1007/s00439-020-02251-2;
RA Salian S., Benkerroum H., Nguyen T.T.M., Nampoothiri S., Kinoshita T.,
RA Felix T.M., Stewart F., Sisodiya S.M., Murakami Y., Campeau P.M.;
RT "PIGF deficiency causes a phenotype overlapping with DOORS syndrome.";
RL Hum. Genet. 140:879-884(2021).
CC -!- FUNCTION: Involved in GPI-anchor biosynthesis (PubMed:33386993). It
CC acts through the transfer of ethanolamine phosphate to the third
CC mannose of GPI. {ECO:0000250, ECO:0000269|PubMed:33386993}.
CC -!- PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor
CC biosynthesis.
CC -!- SUBUNIT: Forms a complex with PIGG and PIGO. PIGF is required to
CC stabilize PIGG and PIGO.
CC -!- INTERACTION:
CC Q07326; Q13520: AQP6; NbExp=3; IntAct=EBI-17180304, EBI-13059134;
CC Q07326; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-17180304, EBI-13345167;
CC Q07326; Q9Y5Y7: LYVE1; NbExp=3; IntAct=EBI-17180304, EBI-10329546;
CC Q07326; Q9NQG1: MANBAL; NbExp=3; IntAct=EBI-17180304, EBI-3867271;
CC Q07326; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-17180304, EBI-6268651;
CC Q07326; Q8N3G9: TMEM130; NbExp=3; IntAct=EBI-17180304, EBI-19763514;
CC Q07326; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-17180304, EBI-8638294;
CC Q07326; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-17180304, EBI-2548832;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q07326-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q07326-2; Sequence=VSP_004361;
CC -!- DISEASE: Onychodystrophy, osteodystrophy, impaired intellectual
CC development, and seizures syndrome (OORS) [MIM:619356]: An autosomal
CC recessive disorder characterized by global developmental delay,
CC impaired intellectual development, seizures or tonic posturing,
CC dysmorphic facial features, and hypoplastic terminal phalanges and
CC nails. {ECO:0000269|PubMed:33386993}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the PIGF family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; D13435; BAA02697.1; -; mRNA.
DR EMBL; BC021725; AAH21725.1; -; mRNA.
DR EMBL; BC029408; AAH29408.1; -; mRNA.
DR CCDS; CCDS1827.1; -. [Q07326-1]
DR CCDS; CCDS1828.1; -. [Q07326-2]
DR PIR; A46097; A46097.
DR RefSeq; NP_002634.1; NM_002643.3. [Q07326-1]
DR RefSeq; NP_775097.1; NM_173074.2. [Q07326-2]
DR AlphaFoldDB; Q07326; -.
DR BioGRID; 111299; 26.
DR IntAct; Q07326; 8.
DR STRING; 9606.ENSP00000281382; -.
DR BioMuta; PIGF; -.
DR DMDM; 730326; -.
DR MassIVE; Q07326; -.
DR PaxDb; Q07326; -.
DR PeptideAtlas; Q07326; -.
DR PRIDE; Q07326; -.
DR Antibodypedia; 29978; 100 antibodies from 25 providers.
DR DNASU; 5281; -.
DR Ensembl; ENST00000281382.11; ENSP00000281382.6; ENSG00000151665.13. [Q07326-1]
DR Ensembl; ENST00000306465.8; ENSP00000302663.4; ENSG00000151665.13. [Q07326-2]
DR GeneID; 5281; -.
DR KEGG; hsa:5281; -.
DR MANE-Select; ENST00000281382.11; ENSP00000281382.6; NM_002643.4; NP_002634.1.
DR UCSC; uc002rvc.4; human. [Q07326-1]
DR CTD; 5281; -.
DR DisGeNET; 5281; -.
DR GeneCards; PIGF; -.
DR HGNC; HGNC:8962; PIGF.
DR HPA; ENSG00000151665; Low tissue specificity.
DR MIM; 600153; gene.
DR MIM; 619356; phenotype.
DR neXtProt; NX_Q07326; -.
DR OpenTargets; ENSG00000151665; -.
DR PharmGKB; PA33293; -.
DR VEuPathDB; HostDB:ENSG00000151665; -.
DR eggNOG; KOG3144; Eukaryota.
DR GeneTree; ENSGT00390000016617; -.
DR HOGENOM; CLU_1261153_0_0_1; -.
DR InParanoid; Q07326; -.
DR OMA; AHKISRF; -.
DR OrthoDB; 1182539at2759; -.
DR PhylomeDB; Q07326; -.
DR TreeFam; TF323878; -.
DR PathwayCommons; Q07326; -.
DR Reactome; R-HSA-162710; Synthesis of glycosylphosphatidylinositol (GPI).
DR SignaLink; Q07326; -.
DR SIGNOR; Q07326; -.
DR UniPathway; UPA00196; -.
DR BioGRID-ORCS; 5281; 19 hits in 1074 CRISPR screens.
DR ChiTaRS; PIGF; human.
DR GeneWiki; PIGF; -.
DR GenomeRNAi; 5281; -.
DR Pharos; Q07326; Tbio.
DR PRO; PR:Q07326; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q07326; protein.
DR Bgee; ENSG00000151665; Expressed in oocyte and 185 other tissues.
DR ExpressionAtlas; Q07326; baseline and differential.
DR Genevisible; Q07326; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0004307; F:ethanolaminephosphotransferase activity; TAS:ProtInc.
DR GO; GO:0051377; F:mannose-ethanolamine phosphotransferase activity; IBA:GO_Central.
DR GO; GO:0006506; P:GPI anchor biosynthetic process; IMP:UniProtKB.
DR InterPro; IPR009580; GPI_biosynthesis_protein_Pig-F.
DR Pfam; PF06699; PIG-F; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Endoplasmic reticulum; Epilepsy;
KW GPI-anchor biosynthesis; Intellectual disability; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..219
FT /note="Phosphatidylinositol-glycan biosynthesis class F
FT protein"
FT /id="PRO_0000191759"
FT TRANSMEM 11..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 42..62
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 86..106
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 113..133
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 155..175
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 189..209
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 183..219
FT /note="VWPISCTLGATFGYVAGLVISPLWIYWNRKQLTYKNN -> MTVERKRSTYR
FT SLHVPCRGLGTVK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_004361"
FT VARIANT 172
FT /note="P -> R (in OORS; defective GPI anchor biosynthesis
FT in homozygous patient cells)"
FT /evidence="ECO:0000269|PubMed:33386993"
FT /id="VAR_085810"
SQ SEQUENCE 219 AA; 24890 MW; 313F97A55B781EBF CRC64;
MKDNDIKRLL YTHLLCIFSI ILSVFIPSLF LENFSILETH LTWLCICSGF VTAVNLVLYL
VVKPNTSSKR SSLSHKVTGF LKCCIYFLMS CFSFHVIFVL YGAPLIELAL ETFLFAVILS
TFTTVPCLCL LGPNLKAWLR VFSRNGVTSI WENSLQITTI SSFVGAWLGA LPIPLDWERP
WQVWPISCTL GATFGYVAGL VISPLWIYWN RKQLTYKNN
