GCNT7_HUMAN
ID GCNT7_HUMAN Reviewed; 430 AA.
AC Q6ZNI0; Q9HCV8;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7;
DE EC=2.4.1.-;
GN Name=GCNT7; Synonyms=C20orf105;
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], AND VARIANT GLU-352.
RC TISSUE=Testis;
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=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
CC -!- FUNCTION: Glycosyltransferase. {ECO:0000250}.
CC -!- PATHWAY: Protein modification; protein glycosylation.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-
CC pass type II membrane protein {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 14 family.
CC {ECO:0000305}.
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DR EMBL; AK131203; BAD18395.1; -; mRNA.
DR EMBL; AL109806; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_542182.1; NM_080615.1.
DR AlphaFoldDB; Q6ZNI0; -.
DR SMR; Q6ZNI0; -.
DR STRING; 9606.ENSP00000482600; -.
DR CAZy; GT14; Glycosyltransferase Family 14.
DR GlyGen; Q6ZNI0; 2 sites.
DR iPTMnet; Q6ZNI0; -.
DR PhosphoSitePlus; Q6ZNI0; -.
DR BioMuta; GCNT7; -.
DR DMDM; 156630799; -.
DR MassIVE; Q6ZNI0; -.
DR PaxDb; Q6ZNI0; -.
DR PRIDE; Q6ZNI0; -.
DR Antibodypedia; 59236; 157 antibodies from 23 providers.
DR DNASU; 140687; -.
DR Ensembl; ENST00000243913.8; ENSP00000243913.4; ENSG00000124091.10.
DR GeneID; 140687; -.
DR KEGG; hsa:140687; -.
DR UCSC; uc061xwx.1; human.
DR CTD; 140687; -.
DR DisGeNET; 140687; -.
DR GeneCards; GCNT7; -.
DR HGNC; HGNC:16099; GCNT7.
DR HPA; ENSG00000124091; Tissue enriched (bone).
DR neXtProt; NX_Q6ZNI0; -.
DR PharmGKB; PA162389279; -.
DR VEuPathDB; HostDB:ENSG00000124091; -.
DR eggNOG; KOG0799; Eukaryota.
DR HOGENOM; CLU_032341_1_0_1; -.
DR InParanoid; Q6ZNI0; -.
DR OrthoDB; 791893at2759; -.
DR PhylomeDB; Q6ZNI0; -.
DR TreeFam; TF315534; -.
DR PathwayCommons; Q6ZNI0; -.
DR Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR SignaLink; Q6ZNI0; -.
DR UniPathway; UPA00378; -.
DR BioGRID-ORCS; 140687; 10 hits in 308 CRISPR screens.
DR ChiTaRS; GCNT7; human.
DR GenomeRNAi; 140687; -.
DR Pharos; Q6ZNI0; Tbio.
DR PRO; PR:Q6ZNI0; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q6ZNI0; protein.
DR Bgee; ENSG00000124091; Expressed in bone marrow cell and 86 other tissues.
DR ExpressionAtlas; Q6ZNI0; baseline and differential.
DR Genevisible; Q6ZNI0; HS.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0008375; F:acetylglucosaminyltransferase activity; IBA:GO_Central.
DR GO; GO:0006486; P:protein glycosylation; IEA:UniProtKB-UniPathway.
DR InterPro; IPR003406; Glyco_trans_14.
DR Pfam; PF02485; Branch; 1.
PE 2: Evidence at transcript level;
KW Disulfide bond; Glycoprotein; Glycosyltransferase; Golgi apparatus;
KW Membrane; Reference proteome; Signal-anchor; Transferase; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..430
FT /note="Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-
FT 1,6-N-acetylglucosaminyltransferase 7"
FT /id="PRO_0000299038"
FT TOPO_DOM 1..8
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 9..25
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 26..430
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT CARBOHYD 87
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 272
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 53..205
FT /evidence="ECO:0000250"
FT DISULFID 139..354
FT /evidence="ECO:0000250"
FT DISULFID 160..187
FT /evidence="ECO:0000250"
FT DISULFID 363..395
FT /evidence="ECO:0000250"
FT VARIANT 352
FT /note="D -> E (in dbSNP:rs34552628)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_061211"
FT VARIANT 425
FT /note="N -> H (in dbSNP:rs3746627)"
FT /id="VAR_059315"
SQ SEQUENCE 430 AA; 49319 MW; A134E24C3F4D8499 CRC64;
MSQLRATKSG LVVRAVICIF IFLYLRNPTP AESEEEPAQP EVVECGFYPD ELCSALFEGK
GAAPQIAKFC KTPHKSEIHA HLHTPGNCSR ISRGLHFITR PLSAEEGDFS LAYIITIHKE
LAMFVQLLRA IYVPQNVYCI HVDEKAPMKY KTAVQTLVNC FENVFISSKT EKVAYAGFTR
LQADINCMKV LVHSKFQWNY VINLCGQDFP IKTNREIIHY IRSKWSDKNI TPGVIQPLHI
KSKTSQSHLE FVPKGSIYAP PNNRFKDKPP HNLTIYFGSA YYVLTRKFVE FILTDIHAKD
MLQWSKDIRS PEQHYWVTLN RLKDAPGATP NAGWEGNVRA IKRKSEEGNV HDGCKGRYVE
DICVYGPGDL PWLIQSPSLF ANKFEPSTDP LVVTCLERRH RLQVLRQAEV PIEPHWHFQQ
QSHFNMRLNR
