GL8D2_HUMAN
ID GL8D2_HUMAN Reviewed; 349 AA.
AC Q9H1C3; Q96KA2;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Glycosyltransferase 8 domain-containing protein 2;
DE EC=2.4.1.-;
GN Name=GLT8D2; Synonyms=GALA4A; ORFNames=UNQ1901/PRO4347;
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].
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].
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-37.
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Prostate;
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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 8 family. {ECO:0000305}.
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DR EMBL; AJ271711; CAC19667.1; -; mRNA.
DR EMBL; AY358763; AAQ89123.1; -; mRNA.
DR EMBL; AK027310; BAB55033.1; -; mRNA.
DR EMBL; AK056056; BAB71085.1; -; mRNA.
DR EMBL; BC022343; AAH22343.1; -; mRNA.
DR CCDS; CCDS9096.1; -.
DR RefSeq; NP_001303896.1; NM_001316967.1.
DR RefSeq; NP_112592.1; NM_031302.4.
DR RefSeq; XP_011537095.1; XM_011538793.2.
DR RefSeq; XP_016875488.1; XM_017019999.1.
DR AlphaFoldDB; Q9H1C3; -.
DR SMR; Q9H1C3; -.
DR BioGRID; 123660; 30.
DR IntAct; Q9H1C3; 9.
DR STRING; 9606.ENSP00000354053; -.
DR CAZy; GT8; Glycosyltransferase Family 8.
DR GlyGen; Q9H1C3; 1 site.
DR iPTMnet; Q9H1C3; -.
DR PhosphoSitePlus; Q9H1C3; -.
DR BioMuta; GLT8D2; -.
DR DMDM; 74733535; -.
DR jPOST; Q9H1C3; -.
DR MassIVE; Q9H1C3; -.
DR MaxQB; Q9H1C3; -.
DR PaxDb; Q9H1C3; -.
DR PeptideAtlas; Q9H1C3; -.
DR PRIDE; Q9H1C3; -.
DR ProteomicsDB; 80397; -.
DR Antibodypedia; 18134; 142 antibodies from 18 providers.
DR DNASU; 83468; -.
DR Ensembl; ENST00000360814.9; ENSP00000354053.4; ENSG00000120820.13.
DR Ensembl; ENST00000546436.5; ENSP00000449750.1; ENSG00000120820.13.
DR Ensembl; ENST00000548660.5; ENSP00000447450.1; ENSG00000120820.13.
DR GeneID; 83468; -.
DR KEGG; hsa:83468; -.
DR MANE-Select; ENST00000360814.9; ENSP00000354053.4; NM_001384711.1; NP_001371640.1.
DR UCSC; uc001tkh.2; human.
DR CTD; 83468; -.
DR DisGeNET; 83468; -.
DR GeneCards; GLT8D2; -.
DR HGNC; HGNC:24890; GLT8D2.
DR HPA; ENSG00000120820; Low tissue specificity.
DR neXtProt; NX_Q9H1C3; -.
DR OpenTargets; ENSG00000120820; -.
DR PharmGKB; PA134939919; -.
DR VEuPathDB; HostDB:ENSG00000120820; -.
DR eggNOG; ENOG502QTN8; Eukaryota.
DR GeneTree; ENSGT00940000158078; -.
DR HOGENOM; CLU_010770_0_0_1; -.
DR InParanoid; Q9H1C3; -.
DR OMA; INPMWHI; -.
DR OrthoDB; 1520602at2759; -.
DR PhylomeDB; Q9H1C3; -.
DR TreeFam; TF332433; -.
DR PathwayCommons; Q9H1C3; -.
DR SignaLink; Q9H1C3; -.
DR BioGRID-ORCS; 83468; 9 hits in 1066 CRISPR screens.
DR ChiTaRS; GLT8D2; human.
DR GenomeRNAi; 83468; -.
DR Pharos; Q9H1C3; Tbio.
DR PRO; PR:Q9H1C3; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9H1C3; protein.
DR Bgee; ENSG00000120820; Expressed in tibia and 186 other tissues.
DR ExpressionAtlas; Q9H1C3; baseline and differential.
DR Genevisible; Q9H1C3; 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: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 2: Evidence at transcript level;
KW Glycoprotein; Glycosyltransferase; Membrane; Reference proteome;
KW Signal-anchor; Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1..349
FT /note="Glycosyltransferase 8 domain-containing protein 2"
FT /id="PRO_0000271382"
FT TOPO_DOM 1..6
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 7..24
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 25..349
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT CARBOHYD 234
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 37
FT /note="A -> T (in dbSNP:rs17035120)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_049247"
FT CONFLICT 72
FT /note="I -> F (in Ref. 3; BAB55033)"
FT /evidence="ECO:0000305"
FT CONFLICT 227
FT /note="N -> D (in Ref. 3; BAB55033)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 349 AA; 40026 MW; 19FBF16C5AB1D647 CRC64;
MALLRKINQV LLFLLIVTLC VILYKKVHKG TVPKNDADDE SETPEELEEE IPVVICAAAG
RMGATMAAIN SIYSNTDANI LFYVVGLRNT LTRIRKWIEH SKLREINFKI VEFNPMVLKG
KIRPDSSRPE LLQPLNFVRF YLPLLIHQHE KVIYLDDDVI VQGDIQELYD TTLALGHAAA
FSDDCDLPSA QDINRLVGLQ NTYMGYLDYR KKAIKDLGIS PSTCSFNPGV IVANMTEWKH
QRITKQLEKW MQKNVEENLY SSSLGGGVAT SPMLIVFHGK YSTINPLWHI RHLGWNPDAR
YSEHFLQEAK LLHWNGRHKP WDFPSVHNDL WESWFVPDPA GIFKLNHHS
