GTDC1_HUMAN
ID GTDC1_HUMAN Reviewed; 458 AA.
AC Q4AE62; A0A087X2H5; A8K5P2; D3DP81; G1UFN1; G5EA49; H7BYJ5; Q53SM7; Q53TC5;
AC Q6P7E7; Q6PJB6; Q6WKW6; Q9HAE5;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2005, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Glycosyltransferase-like domain-containing protein 1;
DE AltName: Full=Mannosyltransferase-like protein Xa {ECO:0000303|PubMed:21821951};
DE AltName: Full=Mat-Xa {ECO:0000303|PubMed:21821951};
GN Name=GTDC1;
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), TISSUE SPECIFICITY, AND VARIANT
RP ILE-137.
RC TISSUE=Brain;
RX PubMed=15068588; DOI=10.1089/104454904322964788;
RA Zhao E., Li Y., Fu X., Zhang J.-Y., Zeng H., Zeng L., Lin Y., Chen J.,
RA Yin G., Qian J., Ying K., Xie Y., Zhao R.C., Mao Y.-M.;
RT "Cloning and expression of human GTDC1 gene (glycosyltransferase-like
RT domain containing 1) from human fetal library.";
RL DNA Cell Biol. 23:183-187(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=21821951; DOI=10.1271/bbb.110124;
RA Shimono N., Nishimura Y., Kamiguchi H., Nishikawa Y.;
RT "Remarkable expression in the colon adenocarcinoma of Hmat-Xa, a human
RT mannosyltransferase-like gene, that is homologous to Drosophila gene
RT GC15914.";
RL Biosci. Biotechnol. Biochem. 75:1451-1455(2011).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Nishikawa Y., Takahashi T., Saito A., Shimazawa K., Hosaka M.;
RT "Cloning and expression of a novel human mannosyltransferase candidate.";
RL Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-137.
RC TISSUE=Brain, and Embryo;
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 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 [6]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Bone, and Kidney;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q4AE62-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4AE62-2; Sequence=VSP_029379;
CC Name=3;
CC IsoId=Q4AE62-3; Sequence=VSP_029378;
CC Name=4; Synonyms=c;
CC IsoId=Q4AE62-4; Sequence=VSP_057598, VSP_057599;
CC Name=5; Synonyms=f;
CC IsoId=Q4AE62-5; Sequence=VSP_057597;
CC Name=6; Synonyms=d;
CC IsoId=Q4AE62-6; Sequence=VSP_057596;
CC -!- TISSUE SPECIFICITY: Ubiquitous. Expressed at high levels in the lung,
CC brain, spleen, testis, placenta. ovary, pancreas, spleen and peripheral
CC blood leukocytes. Expressed at low level in the colon, small intestine,
CC kidney, skeletal muscle and thymus. Expressed at high level in colon
CC adenocarcinoma. {ECO:0000269|PubMed:15068588,
CC ECO:0000269|PubMed:21821951}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase group 1 family.
CC Glycosyltransferase 4 subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAX93131.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB13904.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY281366; AAQ16408.1; -; mRNA.
DR EMBL; AB597184; BAK74843.1; -; mRNA.
DR EMBL; AB201269; BAE16560.1; -; mRNA.
DR EMBL; AK021815; BAB13904.1; ALT_INIT; mRNA.
DR EMBL; AK291357; BAF84046.1; -; mRNA.
DR EMBL; AC009957; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC010130; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC010681; AAX93131.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC016910; AAY14764.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11579.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11580.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11581.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11582.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11583.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11584.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11585.1; -; Genomic_DNA.
DR EMBL; BC017741; AAH17741.1; -; mRNA.
DR EMBL; BC061699; AAH61699.1; -; mRNA.
DR CCDS; CCDS2185.1; -. [Q4AE62-2]
DR CCDS; CCDS33300.1; -. [Q4AE62-1]
DR CCDS; CCDS63029.1; -. [Q4AE62-4]
DR CCDS; CCDS74582.1; -. [Q4AE62-6]
DR CCDS; CCDS74583.1; -. [Q4AE62-5]
DR RefSeq; NP_001006637.1; NM_001006636.3. [Q4AE62-1]
DR RefSeq; NP_001158101.1; NM_001164629.3. [Q4AE62-1]
DR RefSeq; NP_001271162.1; NM_001284233.1. [Q4AE62-4]
DR RefSeq; NP_001271163.1; NM_001284234.1. [Q4AE62-6]
DR RefSeq; NP_001271164.1; NM_001284235.1. [Q4AE62-3]
DR RefSeq; NP_001271167.1; NM_001284238.1. [Q4AE62-5]
DR RefSeq; NP_078935.2; NM_024659.4. [Q4AE62-2]
DR RefSeq; XP_016860416.1; XM_017004927.1.
DR RefSeq; XP_016860417.1; XM_017004928.1.
DR RefSeq; XP_016860418.1; XM_017004929.1.
DR RefSeq; XP_016860419.1; XM_017004930.1.
DR RefSeq; XP_016860420.1; XM_017004931.1.
DR RefSeq; XP_016860421.1; XM_017004932.1.
DR RefSeq; XP_016860422.1; XM_017004933.1.
DR RefSeq; XP_016860423.1; XM_017004934.1. [Q4AE62-1]
DR RefSeq; XP_016860424.1; XM_017004935.1. [Q4AE62-1]
DR RefSeq; XP_016860425.1; XM_017004936.1. [Q4AE62-1]
DR RefSeq; XP_016860431.1; XM_017004942.1. [Q4AE62-4]
DR RefSeq; XP_016860432.1; XM_017004943.1.
DR RefSeq; XP_016860433.1; XM_017004944.1. [Q4AE62-2]
DR RefSeq; XP_016860434.1; XM_017004945.1.
DR RefSeq; XP_016860435.1; XM_017004946.1.
DR RefSeq; XP_016860436.1; XM_017004947.1.
DR RefSeq; XP_016860437.1; XM_017004948.1. [Q4AE62-2]
DR AlphaFoldDB; Q4AE62; -.
DR BioGRID; 122829; 3.
DR STRING; 9606.ENSP00000376608; -.
DR CAZy; GT4; Glycosyltransferase Family 4.
DR iPTMnet; Q4AE62; -.
DR PhosphoSitePlus; Q4AE62; -.
DR BioMuta; GTDC1; -.
DR DMDM; 121946960; -.
DR EPD; Q4AE62; -.
DR MassIVE; Q4AE62; -.
DR MaxQB; Q4AE62; -.
DR PaxDb; Q4AE62; -.
DR PeptideAtlas; Q4AE62; -.
DR PRIDE; Q4AE62; -.
DR ProteomicsDB; 34139; -.
DR ProteomicsDB; 43640; -.
DR ProteomicsDB; 62093; -. [Q4AE62-1]
DR ProteomicsDB; 62094; -. [Q4AE62-2]
DR ProteomicsDB; 62095; -. [Q4AE62-3]
DR Antibodypedia; 33618; 164 antibodies from 24 providers.
DR DNASU; 79712; -.
DR Ensembl; ENST00000241391.9; ENSP00000241391.6; ENSG00000121964.15. [Q4AE62-4]
DR Ensembl; ENST00000344850.8; ENSP00000339750.4; ENSG00000121964.15. [Q4AE62-1]
DR Ensembl; ENST00000392867.7; ENSP00000376606.3; ENSG00000121964.15. [Q4AE62-2]
DR Ensembl; ENST00000392869.6; ENSP00000376608.1; ENSG00000121964.15. [Q4AE62-1]
DR Ensembl; ENST00000392871.6; ENSP00000376610.2; ENSG00000121964.15. [Q4AE62-4]
DR Ensembl; ENST00000409214.5; ENSP00000386581.1; ENSG00000121964.15. [Q4AE62-1]
DR Ensembl; ENST00000463875.6; ENSP00000437964.1; ENSG00000121964.15. [Q4AE62-6]
DR Ensembl; ENST00000542155.5; ENSP00000438323.1; ENSG00000121964.15. [Q4AE62-1]
DR Ensembl; ENST00000618778.4; ENSP00000484990.1; ENSG00000121964.15. [Q4AE62-5]
DR Ensembl; ENST00000682281.1; ENSP00000507713.1; ENSG00000121964.15. [Q4AE62-1]
DR GeneID; 79712; -.
DR KEGG; hsa:79712; -.
DR MANE-Select; ENST00000682281.1; ENSP00000507713.1; NM_001376312.2; NP_001363241.1.
DR UCSC; uc002tvo.4; human.
DR UCSC; uc002tvp.4; human. [Q4AE62-1]
DR UCSC; uc010fno.5; human.
DR UCSC; uc061ofi.1; human.
DR CTD; 79712; -.
DR DisGeNET; 79712; -.
DR GeneCards; GTDC1; -.
DR HGNC; HGNC:20887; GTDC1.
DR HPA; ENSG00000121964; Low tissue specificity.
DR MIM; 610165; gene.
DR neXtProt; NX_Q4AE62; -.
DR OpenTargets; ENSG00000121964; -.
DR PharmGKB; PA134892601; -.
DR VEuPathDB; HostDB:ENSG00000121964; -.
DR eggNOG; ENOG502QQJ3; Eukaryota.
DR GeneTree; ENSGT00390000006631; -.
DR InParanoid; Q4AE62; -.
DR OMA; HRWEYDK; -.
DR OrthoDB; 583461at2759; -.
DR PhylomeDB; Q4AE62; -.
DR TreeFam; TF324818; -.
DR PathwayCommons; Q4AE62; -.
DR BioGRID-ORCS; 79712; 16 hits in 1082 CRISPR screens.
DR ChiTaRS; GTDC1; human.
DR GenomeRNAi; 79712; -.
DR Pharos; Q4AE62; Tbio.
DR PRO; PR:Q4AE62; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q4AE62; protein.
DR Bgee; ENSG00000121964; Expressed in cortical plate and 195 other tissues.
DR ExpressionAtlas; Q4AE62; baseline and differential.
DR Genevisible; Q4AE62; HS.
DR GO; GO:0016757; F:glycosyltransferase activity; IEA:InterPro.
DR InterPro; IPR001296; Glyco_trans_1.
DR InterPro; IPR022701; GlycosylTrfase_1_N.
DR Pfam; PF12038; DUF3524; 1.
DR Pfam; PF00534; Glycos_transf_1; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..458
FT /note="Glycosyltransferase-like domain-containing protein
FT 1"
FT /id="PRO_0000311088"
FT REGION 242..267
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..129
FT /note="Missing (in isoform 6)"
FT /id="VSP_057596"
FT VAR_SEQ 1..59
FT /note="MSILIIEAFYGGSHKQLVDLLQEELGDCVVYTLPAKKWHWRARTSALYFSQT
FT IPISEHY -> MLTLHVWIWFGFMPCPNLMQNYNHQCC (in isoform 5)"
FT /id="VSP_057597"
FT VAR_SEQ 293..458
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029378"
FT VAR_SEQ 293..377
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029379"
FT VAR_SEQ 329..376
FT /note="DIFSEAKKALGSSVLHWGYLPSKDDYFQVLCMADVVISTAKHEFFGVA ->
FT GWKLCTVGVTHFVLKIWFIPKYFQLNICILHLNSFQKGSRISARDQIL (in
FT isoform 4)"
FT /id="VSP_057598"
FT VAR_SEQ 377..458
FT /note="Missing (in isoform 4)"
FT /id="VSP_057599"
FT VARIANT 137
FT /note="M -> I (in dbSNP:rs3731958)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15068588"
FT /id="VAR_037136"
SQ SEQUENCE 458 AA; 52597 MW; C1B4BCD52B354A72 CRC64;
MSILIIEAFY GGSHKQLVDL LQEELGDCVV YTLPAKKWHW RARTSALYFS QTIPISEHYR
TLFASSVLNL TELAALRPDL GKLKKILYFH ENQLIYPVKK CQERDFQYGY NQILSCLVAD
VVVFNSVFNM ESFLTSMGKF MKLIPDHRPK DLESIIRPKC QVIYFPIRFP DVSRFMPKHK
TTHLKKMLGL KGNGGAVLSM ALPFQPEQRD SEDLLKNFNS ECDTHCGLDT ARQEYLGNSL
RQESDLKKST SSDNSSSHHG ENKQNLTVDP CDILGGVDNQ QRLLHIVWPH RWEHDKDPES
FFKVLMHLKD LGLNFHVSVL GETFTDVPDI FSEAKKALGS SVLHWGYLPS KDDYFQVLCM
ADVVISTAKH EFFGVAMLEA VYCGCYPLCP KDLVYPEIFP AEYLYSTPEQ LSKRLQNFCK
RPDIIRKHLY KGEIAPFSWA ALHGKFRSLL TTEPREDL
