(data stored in ACNUC18858 zone)

SWISSPROT: 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   11-DEC-2019, entry version 97.
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}.
DR   EMBL; AK131203; BAD18395.1; -; mRNA.
DR   EMBL; AL109806; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_542182.1; NM_080615.1.
DR   SMR; Q6ZNI0; -.
DR   STRING; 9606.ENSP00000482600; -.
DR   CAZy; GT14; Glycosyltransferase Family 14.
DR   iPTMnet; Q6ZNI0; -.
DR   PhosphoSitePlus; Q6ZNI0; -.
DR   BioMuta; GCNT7; -.
DR   DMDM; 156630799; -.
DR   PaxDb; Q6ZNI0; -.
DR   PRIDE; Q6ZNI0; -.
DR   ProteomicsDB; 68027; -.
DR   Ensembl; ENST00000243913; ENSP00000243913; ENSG00000124091.
DR   GeneID; 140687; -.
DR   KEGG; hsa:140687; -.
DR   UCSC; uc061xwx.1; human.
DR   CTD; 140687; -.
DR   DisGeNET; 140687; -.
DR   EuPathDB; HostDB:ENSG00000124091.9; -.
DR   GeneCards; GCNT7; -.
DR   HGNC; HGNC:16099; GCNT7.
DR   HPA; HPA052617; -.
DR   neXtProt; NX_Q6ZNI0; -.
DR   PharmGKB; PA162389279; -.
DR   eggNOG; KOG0799; Eukaryota.
DR   eggNOG; ENOG410XQ7M; LUCA.
DR   HOGENOM; HOG000293251; -.
DR   InParanoid; Q6ZNI0; -.
DR   OrthoDB; 791893at2759; -.
DR   PhylomeDB; Q6ZNI0; -.
DR   TreeFam; TF315534; -.
DR   Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR   SignaLink; Q6ZNI0; -.
DR   UniPathway; UPA00378; -.
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 58 organ(s), highest expression level in blood.
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; IEA:InterPro.
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;
DR   PRODOM; Q6ZNI0.
DR   SWISS-2DPAGE; Q6ZNI0.
KW   Disulfide bond; Glycoprotein; Glycosyltransferase; Golgi apparatus;
KW   Membrane; Polymorphism; Reference proteome; Signal-anchor; Transferase;
KW   Transmembrane; 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
//

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