GL1D1_HUMAN
ID GL1D1_HUMAN Reviewed; 346 AA.
AC Q96MS3; Q86XG8;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Glycosyltransferase 1 domain-containing protein 1;
DE EC=2.4.-.-;
DE Flags: Precursor;
GN Name=GLT1D1;
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] (ISOFORM 2).
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96MS3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96MS3-2; Sequence=VSP_029731;
CC Name=3;
CC IsoId=Q96MS3-3; Sequence=VSP_029732, VSP_029733;
CC -!- SIMILARITY: Belongs to the glycosyltransferase group 1 family.
CC Glycosyltransferase 4 subfamily. {ECO:0000305}.
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DR EMBL; AK056540; BAB71209.1; -; mRNA.
DR EMBL; AC069262; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471054; EAW98497.1; -; Genomic_DNA.
DR EMBL; CH471054; EAW98498.1; -; Genomic_DNA.
DR EMBL; BC043528; AAH43528.1; -; mRNA.
DR CCDS; CCDS9265.1; -. [Q96MS3-2]
DR RefSeq; NP_653270.1; NM_144669.2. [Q96MS3-2]
DR AlphaFoldDB; Q96MS3; -.
DR SMR; Q96MS3; -.
DR BioGRID; 126851; 4.
DR IntAct; Q96MS3; 4.
DR CAZy; GT4; Glycosyltransferase Family 4.
DR BioMuta; GLT1D1; -.
DR DMDM; 162416226; -.
DR EPD; Q96MS3; -.
DR MassIVE; Q96MS3; -.
DR PaxDb; Q96MS3; -.
DR PeptideAtlas; Q96MS3; -.
DR PRIDE; Q96MS3; -.
DR ProteomicsDB; 77394; -. [Q96MS3-1]
DR ProteomicsDB; 77395; -. [Q96MS3-2]
DR ProteomicsDB; 77396; -. [Q96MS3-3]
DR Antibodypedia; 31929; 60 antibodies from 12 providers.
DR DNASU; 144423; -.
DR Ensembl; ENST00000281703.11; ENSP00000281703.6; ENSG00000151948.12. [Q96MS3-2]
DR Ensembl; ENST00000441390.6; ENSP00000411992.2; ENSG00000151948.12. [Q96MS3-3]
DR Ensembl; ENST00000442111.6; ENSP00000394692.2; ENSG00000151948.12. [Q96MS3-1]
DR Ensembl; ENST00000539044.5; ENSP00000445064.1; ENSG00000151948.12. [Q96MS3-3]
DR GeneID; 144423; -.
DR KEGG; hsa:144423; -.
DR MANE-Select; ENST00000281703.11; ENSP00000281703.6; NM_144669.3; NP_653270.1. [Q96MS3-2]
DR UCSC; uc001uhx.2; human. [Q96MS3-1]
DR CTD; 144423; -.
DR DisGeNET; 144423; -.
DR GeneCards; GLT1D1; -.
DR HGNC; HGNC:26483; GLT1D1.
DR HPA; ENSG00000151948; Tissue enhanced (bone marrow, liver).
DR neXtProt; NX_Q96MS3; -.
DR OpenTargets; ENSG00000151948; -.
DR PharmGKB; PA128394758; -.
DR VEuPathDB; HostDB:ENSG00000151948; -.
DR eggNOG; ENOG502QQZE; Eukaryota.
DR GeneTree; ENSGT00390000016790; -.
DR HOGENOM; CLU_009583_7_1_1; -.
DR InParanoid; Q96MS3; -.
DR OMA; FEGGMAN; -.
DR OrthoDB; 987386at2759; -.
DR PhylomeDB; Q96MS3; -.
DR TreeFam; TF331382; -.
DR PathwayCommons; Q96MS3; -.
DR SignaLink; Q96MS3; -.
DR BioGRID-ORCS; 144423; 12 hits in 1066 CRISPR screens.
DR ChiTaRS; GLT1D1; human.
DR GenomeRNAi; 144423; -.
DR Pharos; Q96MS3; Tdark.
DR PRO; PR:Q96MS3; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96MS3; protein.
DR Bgee; ENSG00000151948; Expressed in sperm and 146 other tissues.
DR ExpressionAtlas; Q96MS3; baseline and differential.
DR Genevisible; Q96MS3; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0016757; F:glycosyltransferase activity; IEA:UniProtKB-KW.
DR InterPro; IPR001296; Glyco_trans_1.
DR Pfam; PF00534; Glycos_transf_1; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycosyltransferase; Reference proteome; Secreted;
KW Signal; Transferase.
FT SIGNAL 1..16
FT /evidence="ECO:0000255"
FT CHAIN 17..346
FT /note="Glycosyltransferase 1 domain-containing protein 1"
FT /id="PRO_0000312203"
FT VAR_SEQ 108..152
FT /note="RFAVAFTESMKEMAQAQWPHAKGKVYVQSQGIATTPNAAFNWNTF -> SRM
FT LRVRSMSRVKELQQHQTPLLTGIPFFNALRLTKVLIICTYFF (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029732"
FT VAR_SEQ 126..205
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029731"
FT VAR_SEQ 153..346
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029733"
SQ SEQUENCE 346 AA; 38507 MW; 4CD1EE05FD72C5B5 CRC64;
MRLLFLAVLR PHTGNAVTAQ RVRAHLEAAG HVCVLKDAFD FESRSEIANL ILAENCEAAL
ALHLYRGGRL LQGHRIPFGV IFGGTDVNED ANQAEKNTVM GRVLEEARFA VAFTESMKEM
AQAQWPHAKG KVYVQSQGIA TTPNAAFNWN TFLQRSEINQ SADNLHIFLL ICGLRQVKDP
LYLVDAFSAW HQEEPNVHLV IVGPEVDPVF TREVKAKVKR AAGVRLIGEM PQEDLHAVVK
NCFAVVNSSV SEGMSAAILE AMDLEVPVLA RNIPGNAAVV KHEVTGLLFS NPQEFVHLAK
RLVSDPALEK EIVVNGREYV RMYHSWQVER DTYQQLIRKL EGSTED
