PIGZ_HUMAN
ID PIGZ_HUMAN Reviewed; 579 AA.
AC Q86VD9; Q9H9G6;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=GPI mannosyltransferase 4;
DE EC=2.4.1.-;
DE AltName: Full=GPI mannosyltransferase IV;
DE Short=GPI-MT-IV;
DE AltName: Full=Phosphatidylinositol-glycan biosynthesis class Z protein;
DE Short=PIG-Z;
DE AltName: Full=SMP3 homolog;
DE Short=hSMP3;
GN Name=PIGZ; Synonyms=SMP3;
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 MRNA], AND VARIANTS THR-266 AND GLN-340.
RC TISSUE=Teratocarcinoma;
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS THR-266; GLN-340 AND
RP ILE-487.
RC TISSUE=Skin;
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 [4]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=15208306; DOI=10.1074/jbc.m405081200;
RA Taron B.W., Colussi P.A., Wiedman J.M., Orlean P., Taron C.H.;
RT "Human Smp3p adds a fourth mannose to yeast and human
RT glycosylphosphatidylinositol precursors in vivo.";
RL J. Biol. Chem. 279:36083-36092(2004).
CC -!- FUNCTION: Mannosyltransferase involved in glycosylphosphatidylinositol-
CC anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-
CC GPIs during GPI precursor assembly. The presence of a fourth mannose in
CC GPI is facultative and only scarcely detected, suggesting that it only
CC exists in some tissues. {ECO:0000269|PubMed:15208306}.
CC -!- PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor
CC biosynthesis.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:15208306}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:15208306}.
CC -!- TISSUE SPECIFICITY: Widely expressed at low level, with highest level
CC in brain and colon. {ECO:0000269|PubMed:15208306}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 22 family. PIGZ
CC subfamily. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-32 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AK022830; BAB14263.1; -; mRNA.
DR EMBL; AC011322; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC044640; AAH44640.1; -; mRNA.
DR CCDS; CCDS3324.1; -.
DR RefSeq; NP_079439.2; NM_025163.3.
DR AlphaFoldDB; Q86VD9; -.
DR BioGRID; 123197; 3.
DR STRING; 9606.ENSP00000413405; -.
DR CAZy; GT22; Glycosyltransferase Family 22.
DR iPTMnet; Q86VD9; -.
DR PhosphoSitePlus; Q86VD9; -.
DR BioMuta; PIGZ; -.
DR DMDM; 311033491; -.
DR MassIVE; Q86VD9; -.
DR PaxDb; Q86VD9; -.
DR PeptideAtlas; Q86VD9; -.
DR PRIDE; Q86VD9; -.
DR ProteomicsDB; 69989; -.
DR Antibodypedia; 33954; 75 antibodies from 19 providers.
DR DNASU; 80235; -.
DR Ensembl; ENST00000412723.6; ENSP00000413405.1; ENSG00000119227.8.
DR GeneID; 80235; -.
DR KEGG; hsa:80235; -.
DR MANE-Select; ENST00000412723.6; ENSP00000413405.1; NM_025163.4; NP_079439.2.
DR UCSC; uc003fxh.5; human.
DR CTD; 80235; -.
DR DisGeNET; 80235; -.
DR GeneCards; PIGZ; -.
DR HGNC; HGNC:30596; PIGZ.
DR HPA; ENSG00000119227; Tissue enhanced (intestine).
DR MIM; 611671; gene.
DR neXtProt; NX_Q86VD9; -.
DR OpenTargets; ENSG00000119227; -.
DR PharmGKB; PA142671171; -.
DR VEuPathDB; HostDB:ENSG00000119227; -.
DR eggNOG; KOG4123; Eukaryota.
DR GeneTree; ENSGT00940000163773; -.
DR HOGENOM; CLU_022957_1_1_1; -.
DR InParanoid; Q86VD9; -.
DR OMA; VLWWKTY; -.
DR OrthoDB; 821144at2759; -.
DR PhylomeDB; Q86VD9; -.
DR TreeFam; TF324461; -.
DR PathwayCommons; Q86VD9; -.
DR Reactome; R-HSA-162710; Synthesis of glycosylphosphatidylinositol (GPI).
DR UniPathway; UPA00196; -.
DR BioGRID-ORCS; 80235; 11 hits in 1070 CRISPR screens.
DR ChiTaRS; PIGZ; human.
DR GenomeRNAi; 80235; -.
DR Pharos; Q86VD9; Tbio.
DR PRO; PR:Q86VD9; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q86VD9; protein.
DR Bgee; ENSG00000119227; Expressed in mucosa of transverse colon and 142 other tissues.
DR ExpressionAtlas; Q86VD9; baseline and differential.
DR Genevisible; Q86VD9; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0000026; F:alpha-1,2-mannosyltransferase activity; IMP:UniProtKB.
DR GO; GO:0000030; F:mannosyltransferase activity; IGI:UniProtKB.
DR GO; GO:0006506; P:GPI anchor biosynthetic process; IMP:UniProtKB.
DR GO; GO:0016254; P:preassembly of GPI anchor in ER membrane; TAS:Reactome.
DR InterPro; IPR005599; GPI_mannosylTrfase.
DR PANTHER; PTHR22760; PTHR22760; 1.
DR Pfam; PF03901; Glyco_transf_22; 1.
PE 2: Evidence at transcript level;
KW Endoplasmic reticulum; Glycosyltransferase; GPI-anchor biosynthesis;
KW Membrane; Reference proteome; Transferase; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..579
FT /note="GPI mannosyltransferase 4"
FT /id="PRO_0000246268"
FT TRANSMEM 131..151
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 156..173
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 180..200
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 216..236
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 258..278
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 369..389
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 391..411
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 416..436
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 266
FT /note="A -> T (in dbSNP:rs574365)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_054965"
FT VARIANT 340
FT /note="R -> Q (in dbSNP:rs4916589)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027032"
FT VARIANT 417
FT /note="V -> A (in dbSNP:rs1147238)"
FT /id="VAR_027033"
FT VARIANT 487
FT /note="M -> I (in dbSNP:rs17855662)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027034"
SQ SEQUENCE 579 AA; 63471 MW; 684FD8293BD09909 CRC64;
MQICGSSVAS VAAGTSFQVL GPVCWQQLDL KMAVRVLWGG LSLLRVLWCL LPQTGYVHPD
EFFQSPEVMA EDILGVQAAR PWEFYPSSSC RSVLFPLLIS GSTFWLLRLW EELGPWPGLV
SGYALLVGPR LLLTALSFAL DGAVYHLAPP MGADRWNALA LLSGSYVTLV FYTRTFSNTI
EGLLFTWLLV LVSSHVTWGP TRKEPAPGPR WRSWLLGGIV AAGFFNRPTF LAFAVVPLYL
WGTRGATNPG LKSLTREALV LLPGAALTAA VFVATDSWYF SSPATSRNLV LTPVNFLHYN
LNPQNLARHG THARLTHLAV NGFLLFGVLH AQALQAAWQR LQVGLQASAQ MGLLRALGAR
SLLSSPRSYL LLLYFMPLAL LSAFSHQEAR FLIPLLVPLV LLCSPQTQPV PWKGTVVLFN
ALGALLFGCL HQGGLVPGLE YLEQVVHAPV LPSTPTHYTL LFTHTYMPPR HLLHLPGLGA
PVEVVDMGGT EDWALCQTLK SFTRQPACQV AGGPWLCRLF VVTPGTTRRA VEKCSFPFKN
ETLLFPHLTL EDPPALSSLL SGAWRDHLSL HIVELGEET
