GL8D1_HUMAN
ID GL8D1_HUMAN Reviewed; 371 AA.
AC Q68CQ7; Q7Z4D1; Q8N2J6; Q9P0I5;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Glycosyltransferase 8 domain-containing protein 1;
DE EC=2.4.1.-;
GN Name=GLT8D1; Synonyms=GALA4A; ORFNames=AD-017, MSTP137, UNQ572/PRO1134;
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).
RA Steffensen R., Bennett E.P.;
RT "gala4a, glycosyltransferase.";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Adrenal gland;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Ovary, and 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Fetus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT HIS-210.
RC TISSUE=Aorta;
RA Sheng H., Qin B.M., Liu Y.Q., Zhao B., Liu B., Wang X.Y., Hui R.T.;
RL Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-249.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q68CQ7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q68CQ7-2; Sequence=VSP_025705, VSP_025706;
CC -!- SIMILARITY: Belongs to the glycosyltransferase 8 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ13652.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AJ271710; CAC19666.1; -; mRNA.
DR EMBL; AF157318; AAF67484.1; -; mRNA.
DR EMBL; AY358579; AAQ88942.1; -; mRNA.
DR EMBL; AK027517; BAB55170.1; -; mRNA.
DR EMBL; AK075031; BAC11363.1; -; mRNA.
DR EMBL; CR749821; CAH18681.1; -; mRNA.
DR EMBL; BC119670; AAI19671.1; -; mRNA.
DR EMBL; BC119671; AAI19672.1; -; mRNA.
DR EMBL; AF175227; AAQ13652.1; ALT_FRAME; mRNA.
DR CCDS; CCDS2862.1; -. [Q68CQ7-1]
DR RefSeq; NP_001010983.1; NM_001010983.2. [Q68CQ7-1]
DR RefSeq; NP_001265209.1; NM_001278280.1. [Q68CQ7-1]
DR RefSeq; NP_001265210.1; NM_001278281.1. [Q68CQ7-1]
DR RefSeq; NP_060916.1; NM_018446.3. [Q68CQ7-1]
DR RefSeq; NP_690909.1; NM_152932.2. [Q68CQ7-1]
DR RefSeq; XP_016862346.1; XM_017006857.1.
DR RefSeq; XP_016862347.1; XM_017006858.1.
DR RefSeq; XP_016862348.1; XM_017006859.1.
DR AlphaFoldDB; Q68CQ7; -.
DR SMR; Q68CQ7; -.
DR BioGRID; 120935; 81.
DR IntAct; Q68CQ7; 13.
DR MINT; Q68CQ7; -.
DR STRING; 9606.ENSP00000266014; -.
DR CAZy; GT8; Glycosyltransferase Family 8.
DR GlyConnect; 1277; 1 N-Linked glycan (1 site).
DR GlyGen; Q68CQ7; 6 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites).
DR iPTMnet; Q68CQ7; -.
DR PhosphoSitePlus; Q68CQ7; -.
DR BioMuta; GLT8D1; -.
DR DMDM; 152125896; -.
DR EPD; Q68CQ7; -.
DR jPOST; Q68CQ7; -.
DR MassIVE; Q68CQ7; -.
DR MaxQB; Q68CQ7; -.
DR PaxDb; Q68CQ7; -.
DR PeptideAtlas; Q68CQ7; -.
DR PRIDE; Q68CQ7; -.
DR ProteomicsDB; 66021; -. [Q68CQ7-1]
DR ProteomicsDB; 66022; -. [Q68CQ7-2]
DR Antibodypedia; 2243; 163 antibodies from 19 providers.
DR DNASU; 55830; -.
DR Ensembl; ENST00000266014.11; ENSP00000266014.5; ENSG00000016864.19. [Q68CQ7-1]
DR Ensembl; ENST00000394783.7; ENSP00000378263.3; ENSG00000016864.19. [Q68CQ7-1]
DR Ensembl; ENST00000478968.6; ENSP00000419612.2; ENSG00000016864.19. [Q68CQ7-1]
DR Ensembl; ENST00000491606.5; ENSP00000418853.1; ENSG00000016864.19. [Q68CQ7-1]
DR GeneID; 55830; -.
DR KEGG; hsa:55830; -.
DR MANE-Select; ENST00000266014.11; ENSP00000266014.5; NM_018446.4; NP_060916.1.
DR UCSC; uc003dfi.6; human. [Q68CQ7-1]
DR CTD; 55830; -.
DR DisGeNET; 55830; -.
DR GeneCards; GLT8D1; -.
DR HGNC; HGNC:24870; GLT8D1.
DR HPA; ENSG00000016864; Low tissue specificity.
DR MalaCards; GLT8D1; -.
DR MIM; 618399; gene.
DR neXtProt; NX_Q68CQ7; -.
DR OpenTargets; ENSG00000016864; -.
DR Orphanet; 803; Amyotrophic lateral sclerosis.
DR PharmGKB; PA134947079; -.
DR VEuPathDB; HostDB:ENSG00000016864; -.
DR eggNOG; ENOG502QTN8; Eukaryota.
DR GeneTree; ENSGT00940000159273; -.
DR HOGENOM; CLU_010770_0_0_1; -.
DR InParanoid; Q68CQ7; -.
DR OMA; ARFYLPM; -.
DR PhylomeDB; Q68CQ7; -.
DR TreeFam; TF332433; -.
DR PathwayCommons; Q68CQ7; -.
DR SignaLink; Q68CQ7; -.
DR BioGRID-ORCS; 55830; 17 hits in 1076 CRISPR screens.
DR ChiTaRS; GLT8D1; human.
DR GenomeRNAi; 55830; -.
DR Pharos; Q68CQ7; Tbio.
DR PRO; PR:Q68CQ7; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q68CQ7; protein.
DR Bgee; ENSG00000016864; Expressed in pituitary gland and 203 other tissues.
DR ExpressionAtlas; Q68CQ7; baseline and differential.
DR Genevisible; Q68CQ7; HS.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0016757; F:glycosyltransferase activity; IEA:UniProtKB-KW.
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 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Glycosyltransferase; Membrane;
KW Reference proteome; Signal-anchor; Transferase; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..371
FT /note="Glycosyltransferase 8 domain-containing protein 1"
FT /id="PRO_0000288528"
FT TOPO_DOM 1..7
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 8..28
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 29..371
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT CARBOHYD 249
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT CARBOHYD 257
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 216..259
FT /note="YNYIGYLDYKKERIRKLSMKASTCSFNPGVFVANLTEWKRQNIT -> VNCL
FT PNTPLPTILFNGKRLQIQGTLLLQFTLPNHFIPNLKPAFL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025705"
FT VAR_SEQ 260..371
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025706"
FT VARIANT 210
FT /note="R -> H (in dbSNP:rs2276812)"
FT /evidence="ECO:0000269|Ref.7"
FT /id="VAR_032443"
FT CONFLICT 50
FT /note="F -> C (in Ref. 7; AAQ13652)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="D -> G (in Ref. 5; CAH18681)"
FT /evidence="ECO:0000305"
FT CONFLICT 301
FT /note="P -> L (in Ref. 7; AAQ13652)"
FT /evidence="ECO:0000305"
FT CONFLICT 349
FT /note="W -> G (in Ref. 7; AAQ13652)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 371 AA; 41935 MW; 43492FB4E678F3D0 CRC64;
MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF VPNALRHAVD
GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV TLNNTADHLR SWLNSDSLKS
IRYKIVNFDP KLLEGKVKED PDQGESMKPL TFARFYLPIL VPSAKKAIYM DDDVIVQGDI
LALYNTALKP GHAAAFSEDC DSASTKVVIR GAGNQYNYIG YLDYKKERIR KLSMKASTCS
FNPGVFVANL TEWKRQNITN QLEKWMKLNV EEGLYSRTLA GSITTPPLLI VFYQQHSTID
PMWNVRHLGS SAGKRYSPQF VKAAKLLHWN GHLKPWGRTA SYTDVWEKWY IPDPTGKFNL
IRRYTEISNI K
