PIGX_HUMAN
ID PIGX_HUMAN Reviewed; 258 AA.
AC Q8TBF5; Q9NWZ2;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 3.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Phosphatidylinositol-glycan biosynthesis class X protein;
DE Short=PIG-X;
DE Flags: Precursor;
GN Name=PIGX;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASP-197.
RC TISSUE=Brain;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-243 (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP IDENTIFICATION, AND IDENTIFICATION OF THE NON-CANONICAL START CODON.
RX PubMed=15635094; DOI=10.1091/mbc.e04-09-0802;
RA Ashida H., Hong Y., Murakami Y., Shishioh N., Sugimoto N., Kim Y.U.,
RA Maeda Y., Kinoshita T.;
RT "Mammalian PIG-X and yeast Pbn1p are the essential components of
RT glycosylphosphatidylinositol-mannosyltransferase I.";
RL Mol. Biol. Cell 16:1439-1448(2005).
CC -!- FUNCTION: Essential component of glycosylphosphatidylinositol-
CC mannosyltransferase 1 which transfers the first of the 4 mannoses in
CC the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts
CC by stabilizing the mannosyltransferase PIGM (By similarity).
CC {ECO:0000250}.
CC -!- PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor
CC biosynthesis.
CC -!- SUBUNIT: Interacts with PIGM. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Single-pass type I membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TBF5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TBF5-2; Sequence=VSP_019842;
CC -!- PTM: N-glycosylated. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the PIGX family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH22542.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH22542.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305};
CC Sequence=BAA91233.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91233.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAA91233.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305};
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DR EMBL; AC055725; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC022542; AAH22542.1; ALT_SEQ; mRNA.
DR EMBL; AK000529; BAA91233.1; ALT_SEQ; mRNA.
DR CCDS; CCDS3320.2; -. [Q8TBF5-1]
DR CCDS; CCDS54701.1; -. [Q8TBF5-2]
DR RefSeq; NP_001159776.1; NM_001166304.1. [Q8TBF5-2]
DR RefSeq; NP_060331.3; NM_017861.3. [Q8TBF5-1]
DR AlphaFoldDB; Q8TBF5; -.
DR BioGRID; 120303; 8.
DR IntAct; Q8TBF5; 3.
DR STRING; 9606.ENSP00000296333; -.
DR GlyGen; Q8TBF5; 1 site.
DR iPTMnet; Q8TBF5; -.
DR PhosphoSitePlus; Q8TBF5; -.
DR BioMuta; PIGX; -.
DR DMDM; 229463032; -.
DR EPD; Q8TBF5; -.
DR jPOST; Q8TBF5; -.
DR MassIVE; Q8TBF5; -.
DR MaxQB; Q8TBF5; -.
DR PeptideAtlas; Q8TBF5; -.
DR PRIDE; Q8TBF5; -.
DR ProteomicsDB; 74011; -. [Q8TBF5-1]
DR ProteomicsDB; 74012; -. [Q8TBF5-2]
DR Antibodypedia; 33945; 145 antibodies from 24 providers.
DR DNASU; 54965; -.
DR Ensembl; ENST00000296333.10; ENSP00000296333.6; ENSG00000163964.18. [Q8TBF5-2]
DR Ensembl; ENST00000392391.9; ENSP00000376192.4; ENSG00000163964.18. [Q8TBF5-1]
DR GeneID; 54965; -.
DR KEGG; hsa:54965; -.
DR MANE-Select; ENST00000392391.9; ENSP00000376192.4; NM_017861.4; NP_060331.3.
DR UCSC; uc003fwx.6; human. [Q8TBF5-1]
DR CTD; 54965; -.
DR DisGeNET; 54965; -.
DR GeneCards; PIGX; -.
DR HGNC; HGNC:26046; PIGX.
DR HPA; ENSG00000163964; Low tissue specificity.
DR MIM; 610276; gene.
DR neXtProt; NX_Q8TBF5; -.
DR OpenTargets; ENSG00000163964; -.
DR PharmGKB; PA134928970; -.
DR VEuPathDB; HostDB:ENSG00000163964; -.
DR eggNOG; ENOG502S32M; Eukaryota.
DR GeneTree; ENSGT00390000017679; -.
DR HOGENOM; CLU_076787_0_0_1; -.
DR InParanoid; Q8TBF5; -.
DR OMA; SKYMWKH; -.
DR OrthoDB; 1537024at2759; -.
DR PhylomeDB; Q8TBF5; -.
DR PathwayCommons; Q8TBF5; -.
DR Reactome; R-HSA-162710; Synthesis of glycosylphosphatidylinositol (GPI).
DR SignaLink; Q8TBF5; -.
DR UniPathway; UPA00196; -.
DR BioGRID-ORCS; 54965; 21 hits in 1025 CRISPR screens.
DR ChiTaRS; PIGX; human.
DR GenomeRNAi; 54965; -.
DR Pharos; Q8TBF5; Tdark.
DR PRO; PR:Q8TBF5; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8TBF5; protein.
DR Bgee; ENSG00000163964; Expressed in ventricular zone and 178 other tissues.
DR ExpressionAtlas; Q8TBF5; baseline and differential.
DR Genevisible; Q8TBF5; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0006506; P:GPI anchor biosynthetic process; IEA:UniProtKB-UniPathway.
DR InterPro; IPR013233; PIG-X/PBN1.
DR InterPro; IPR040039; PIGX.
DR PANTHER; PTHR28650; PTHR28650; 1.
DR Pfam; PF08320; PIG-X; 1.
DR SMART; SM00780; PIG-X; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Endoplasmic reticulum; Glycoprotein;
KW GPI-anchor biosynthesis; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..258
FT /note="Phosphatidylinositol-glycan biosynthesis class X
FT protein"
FT /id="PRO_0000246295"
FT TOPO_DOM 22..230
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 231..251
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 252..258
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 103
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 177
FT /note="Q -> QAGSRRMIRFRFDSFDKTI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019842"
FT VARIANT 155
FT /note="P -> L (in dbSNP:rs2291397)"
FT /id="VAR_027035"
FT VARIANT 197
FT /note="E -> D (in dbSNP:rs17852091)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027036"
FT CONFLICT 28
FT /note="A -> T (in Ref. 2; AAH22542)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 258 AA; 28788 MW; 55D3B5A597E0B2E7 CRC64;
MAARVAAVRA AAWLLLGAAT GLTRGPAAAF TAARSDAGIR AMCSEIILRQ EVLKDGFHRD
LLIKVKFGES IEDLHTCRLL IKQDIPAGLY VDPYELASLR ERNITEAVMV SENFDIEAPN
YLSKESEVLI YARRDSQCID CFQAFLPVHC RYHRPHSEDG EASIVVNNPD LLMFCDQEFP
ILKCWAHSEV AAPCALENED ICQWNKMKYK SVYKNVILQV PVGLTVHTSL VCSVTLLITI
LCSTLILVAV FKYGHFSL
