PG2IP_HUMAN
ID PG2IP_HUMAN Reviewed; 699 AA.
AC Q9H720; B2RPD7;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=PGAP2-interacting protein;
DE AltName: Full=Cell wall biogenesis protein 43 C-terminal homolog;
GN Name=CWH43; Synonyms=PGAP2IP;
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-2 AND ASN-689.
RC TISSUE=Colon;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS THR-2 AND ASN-689.
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).
CC -!- FUNCTION: Involved in lipid remodeling during GPI-anchor maturation.
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with PGAP2/FRAG1. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the PGAP2IP family. {ECO:0000305}.
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DR EMBL; AK025164; BAB15080.1; -; mRNA.
DR EMBL; AC020593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137387; AAI37388.1; -; mRNA.
DR EMBL; BC137388; AAI37389.1; -; mRNA.
DR CCDS; CCDS3486.1; -.
DR RefSeq; NP_001273720.1; NM_001286791.1.
DR RefSeq; NP_079363.2; NM_025087.2.
DR AlphaFoldDB; Q9H720; -.
DR SMR; Q9H720; -.
DR BioGRID; 123148; 2.
DR IntAct; Q9H720; 1.
DR STRING; 9606.ENSP00000226432; -.
DR GlyGen; Q9H720; 1 site.
DR iPTMnet; Q9H720; -.
DR PhosphoSitePlus; Q9H720; -.
DR BioMuta; CWH43; -.
DR DMDM; 296439265; -.
DR MassIVE; Q9H720; -.
DR PaxDb; Q9H720; -.
DR PeptideAtlas; Q9H720; -.
DR PRIDE; Q9H720; -.
DR ProteomicsDB; 81077; -.
DR Antibodypedia; 56515; 53 antibodies from 9 providers.
DR DNASU; 80157; -.
DR Ensembl; ENST00000226432.9; ENSP00000226432.4; ENSG00000109182.12.
DR GeneID; 80157; -.
DR KEGG; hsa:80157; -.
DR MANE-Select; ENST00000226432.9; ENSP00000226432.4; NM_025087.3; NP_079363.2.
DR UCSC; uc003gyv.4; human.
DR CTD; 80157; -.
DR DisGeNET; 80157; -.
DR GeneCards; CWH43; -.
DR HGNC; HGNC:26133; CWH43.
DR HPA; ENSG00000109182; Tissue enhanced (esophagus, prostate, skin).
DR MIM; 618561; gene.
DR neXtProt; NX_Q9H720; -.
DR OpenTargets; ENSG00000109182; -.
DR PharmGKB; PA165663488; -.
DR VEuPathDB; HostDB:ENSG00000109182; -.
DR eggNOG; ENOG502QVQN; Eukaryota.
DR GeneTree; ENSGT00510000048509; -.
DR InParanoid; Q9H720; -.
DR OMA; ITAGIWT; -.
DR OrthoDB; 581809at2759; -.
DR PhylomeDB; Q9H720; -.
DR TreeFam; TF328857; -.
DR PathwayCommons; Q9H720; -.
DR SignaLink; Q9H720; -.
DR BioGRID-ORCS; 80157; 9 hits in 1069 CRISPR screens.
DR ChiTaRS; CWH43; human.
DR GenomeRNAi; 80157; -.
DR Pharos; Q9H720; Tdark.
DR PRO; PR:Q9H720; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9H720; protein.
DR Bgee; ENSG00000109182; Expressed in tongue squamous epithelium and 113 other tissues.
DR ExpressionAtlas; Q9H720; baseline and differential.
DR Genevisible; Q9H720; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0006506; P:GPI anchor biosynthetic process; IBA:GO_Central.
DR Gene3D; 3.60.10.10; -; 1.
DR InterPro; IPR036691; Endo/exonu/phosph_ase_sf.
DR InterPro; IPR027317; PGAP2IP.
DR PANTHER; PTHR14859:SF1; PTHR14859:SF1; 1.
DR SUPFAM; SSF56219; SSF56219; 1.
PE 2: Evidence at transcript level;
KW Glycoprotein; GPI-anchor biosynthesis; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..699
FT /note="PGAP2-interacting protein"
FT /id="PRO_0000320615"
FT TRANSMEM 13..33
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 41..61
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 93..113
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 123..143
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 196..216
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 237..257
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 273..293
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 316..336
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 349..369
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 390..410
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 607..627
FT /note="Required for function in lipid remodeling"
FT /evidence="ECO:0000250"
FT CARBOHYD 455
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 2
FT /note="P -> T (in dbSNP:rs3747690)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039234"
FT VARIANT 689
FT /note="H -> N (in dbSNP:rs1051447)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039235"
SQ SEQUENCE 699 AA; 78584 MW; 447B687A88083FA4 CRC64;
MPSLWREILL ESLLGCVSWS LYHDLGPMIY YFPLQTLELT GLEGFSIAFL SPIFLTITPF
WKLVNKKWML TLLRIITIGS IASFQAPNAK LRLMVLALGV SSSLIVQAVT WWSGSHLQRY
LRIWGFILGQ IVLVVLRIWY TSLNPIWSYQ MSNKVILTLS AIATLDRIGT DGDCSKPEEK
KTGEVATGMA SRPNWLLAGA AFGSLVFLTH WVFGEVSLVS RWAVSGHPHP GPDPNPFGGA
VLLCLASGLM LPSCLWFRGT GLIWWVTGTA SAAGLLYLHT WAAAVSGCVF AIFTASMWPQ
TLGHLINSGT NPGKTMTIAM IFYLLEIFFC AWCTAFKFVP GGVYARERSD VLLGTMMLII
GLNMLFGPKK NLDLLLQTKN SSKVLFRKSE KYMKLFLWLL VGVGLLGLGL RHKAYERKLG
KVAPTKEVSA AIWPFRFGYD NEGWSSLERS AHLLNETGAD FITILESDAS KPYMGNNDLT
MWLGEKLGFY TDFGPSTRYH TWGIMALSRY PIVKSEHHLL PSPEGEIAPA ITLTVNISGK
LVDFVVTHFG NHEDDLDRKL QAIAVSKLLK SSSNQVIFLG YITSAPGSRD YLQLTEHGNV
KDIDSTDHDR WCEYIMYRGL IRLGYARISH AELSDSEIQM AKFRIPDDPT NYRDNQKVVI
DHREVSEKIH FNPRFGSYKE GHNYENNHHF HMNTPKYFL
