GXLT2_HUMAN
ID GXLT2_HUMAN Reviewed; 443 AA.
AC A0PJZ3;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Glucoside xylosyltransferase 2;
DE EC=2.4.2.42 {ECO:0000250|UniProtKB:Q4G148};
DE AltName: Full=Glycosyltransferase 8 domain-containing protein 4;
GN Name=GXYLT2; Synonyms=GLT8D4;
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] OF 119-443.
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 FUNCTION.
RX PubMed=19940119; DOI=10.1074/jbc.c109.065409;
RA Sethi M.K., Buettner F.F., Krylov V.B., Takeuchi H., Nifantiev N.E.,
RA Haltiwanger R.S., Gerardy-Schahn R., Bakker H.;
RT "Identification of glycosyltransferase 8 family members as
RT xylosyltransferases acting on O-glucosylated notch epidermal growth factor
RT repeats.";
RL J. Biol. Chem. 285:1582-1586(2010).
CC -!- FUNCTION: Glycosyltransferase which elongates the O-linked glucose
CC attached to EGF-like repeats in the extracellular domain of Notch
CC proteins by catalyzing the addition of xylose.
CC {ECO:0000269|PubMed:19940119}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=3-O-(beta-D-glucosyl)-L-seryl-[EGF-like domain protein] + UDP-
CC alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-
CC seryl-[EGF-like domain protein] + H(+) + UDP; Xref=Rhea:RHEA:56064,
CC Rhea:RHEA-COMP:14610, Rhea:RHEA-COMP:14611, ChEBI:CHEBI:15378,
CC ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:140575,
CC ChEBI:CHEBI:140576; EC=2.4.2.42;
CC Evidence={ECO:0000250|UniProtKB:Q4G148};
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 8 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI27734.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC098481; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC114876; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC127733; AAI27734.1; ALT_INIT; mRNA.
DR CCDS; CCDS46870.1; -.
DR RefSeq; NP_001073862.1; NM_001080393.1.
DR RefSeq; XP_011532370.1; XM_011534068.1.
DR AlphaFoldDB; A0PJZ3; -.
DR SMR; A0PJZ3; -.
DR BioGRID; 608376; 23.
DR IntAct; A0PJZ3; 8.
DR STRING; 9606.ENSP00000374268; -.
DR CAZy; GT8; Glycosyltransferase Family 8.
DR GlyGen; A0PJZ3; 2 sites.
DR iPTMnet; A0PJZ3; -.
DR PhosphoSitePlus; A0PJZ3; -.
DR BioMuta; GXYLT2; -.
DR EPD; A0PJZ3; -.
DR jPOST; A0PJZ3; -.
DR MassIVE; A0PJZ3; -.
DR MaxQB; A0PJZ3; -.
DR PaxDb; A0PJZ3; -.
DR PeptideAtlas; A0PJZ3; -.
DR PRIDE; A0PJZ3; -.
DR ProteomicsDB; 75; -.
DR Antibodypedia; 66937; 65 antibodies from 16 providers.
DR DNASU; 727936; -.
DR Ensembl; ENST00000389617.9; ENSP00000374268.4; ENSG00000172986.13.
DR GeneID; 727936; -.
DR KEGG; hsa:727936; -.
DR MANE-Select; ENST00000389617.9; ENSP00000374268.4; NM_001080393.2; NP_001073862.1.
DR UCSC; uc003dpg.4; human.
DR CTD; 727936; -.
DR DisGeNET; 727936; -.
DR GeneCards; GXYLT2; -.
DR HGNC; HGNC:33383; GXYLT2.
DR HPA; ENSG00000172986; Low tissue specificity.
DR MIM; 613322; gene.
DR neXtProt; NX_A0PJZ3; -.
DR OpenTargets; ENSG00000172986; -.
DR PharmGKB; PA165697418; -.
DR VEuPathDB; HostDB:ENSG00000172986; -.
DR eggNOG; KOG3765; Eukaryota.
DR GeneTree; ENSGT00940000158065; -.
DR HOGENOM; CLU_040965_0_0_1; -.
DR InParanoid; A0PJZ3; -.
DR OMA; RFHIFTE; -.
DR OrthoDB; 978446at2759; -.
DR PhylomeDB; A0PJZ3; -.
DR TreeFam; TF323210; -.
DR PathwayCommons; A0PJZ3; -.
DR SignaLink; A0PJZ3; -.
DR SIGNOR; A0PJZ3; -.
DR BioGRID-ORCS; 727936; 9 hits in 1074 CRISPR screens.
DR ChiTaRS; GXYLT2; human.
DR GenomeRNAi; 727936; -.
DR Pharos; A0PJZ3; Tdark.
DR PRO; PR:A0PJZ3; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A0PJZ3; protein.
DR Bgee; ENSG00000172986; Expressed in mucosa of paranasal sinus and 172 other tissues.
DR ExpressionAtlas; A0PJZ3; baseline and differential.
DR Genevisible; A0PJZ3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0140563; F:UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity; IEA:UniProtKB-EC.
DR GO; GO:0035252; F:UDP-xylosyltransferase activity; IDA:UniProtKB.
DR GO; GO:0016266; P:O-glycan processing; IDA:UniProtKB.
DR Gene3D; 3.90.550.10; -; 1.
DR InterPro; IPR002495; Glyco_trans_8.
DR InterPro; IPR029044; Nucleotide-diphossugar_trans.
DR Pfam; PF01501; Glyco_transf_8; 1.
DR SUPFAM; SSF53448; SSF53448; 1.
PE 2: Evidence at transcript level;
KW Glycoprotein; Glycosyltransferase; Membrane; Reference proteome;
KW Signal-anchor; Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1..443
FT /note="Glucoside xylosyltransferase 2"
FT /id="PRO_0000288539"
FT TOPO_DOM 1..4
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 5..25
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 26..443
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT REGION 32..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 36..58
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 233
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 274
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 443 AA; 51056 MW; A53878D061AA27D9 CRC64;
MKLRSKAAAL LLLALAALLL ALLSLRAGRA EPPALPARPA SAPQRHPAPV PARWPGPGAL
PGASPGVRRR RPPRPRPRAG RRGAARLEKL ARRPGEPRSF QAVLPPELWI HLAVVACGNR
LEETLVMLKS AVLFSHRKIQ FHIFTEDSLK PEFDKQLRQW PDSYTKKFEH RIYPITFSVG
NPQEWKKLFK PCAAQRLFLP VILKDVDSLL YVDTDVLFLR PVDDIWKLLR LFNSTQLAAM
APEHEIPKIG WYSRFARHPF YGSAGVNSGV MLMNLTRIRS TQFKNSMIPT GLAWEDMLYP
LYQKYKNAIT WGDQDLLNII FYFNPECLYV FPCQWNYRPD HCMYGSNCRE AEHEGVSVLH
GNRGVYHDDK QPTFRALYEA IRDFPFQDNL FQSMYYPLQL KFLETVHTLC GRIPQVFLKQ
IEKTMKRAYE KHVIIHVGPN QMH
