(data stored in ACNUC18858 zone)

HOGENOM: HS6_PE224

ID   HS6_PE224                            STANDARD;      PRT;   402 AA.
AC   HS6_PE224; Q8NFS9; Q5T4J1; Q6T5E5;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=N-acetyllactosaminide
DE   beta-1,6-N-acetylglucosaminyl-transferase, isoform C;
DE   Short=N-acetylglucosaminyltransferase; EC=2.4.1 150;AltName:
DE   Full=I-branching enzyme;AltName: Full=IGNT; (HS6.PE224).
GN   Name=GCNT2; Synonyms=GCNT5, II, NACGT1;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS6.PE224.
CC       Homo sapiens chromosome 6 GRCh37  sequence 1..171055067 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:GNT2C_HUMAN
CC   -!- FUNCTION: Branching enzyme that converts linear into branched
CC       poly-N-acetyllactosaminoglycans. Introduces the blood group I
CC       antigen during embryonic development. It is closely associated
CC       with the development and maturation of erythroid cells. The
CC       expression of the blood group I antigen in erythrocytes is
CC       determined by isoform C.
CC   -!- CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + beta-D-
CC       galactosyl-1,4-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-
CC       glucosaminyl-1,6-beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R.
CC   -!- PATHWAY: Protein modification; protein glycosylation.
CC   -!- SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type
CC       II membrane protein (By similarity).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC         Comment=Isoforms A, B and C have different exons 1, but
CC         identical exons 2 and 3;
CC       Name=C; Synonyms=IGNTC, IGNT3;
CC         IsoId=Q8NFS9-1; Sequence=Displayed;
CC         Note=Expressed in reticulocytes. This isoform determines the
CC         expression of the blood group I antigen in erythrocytes;
CC       Name=A; Synonyms=IGNTA, IGNT1;
CC         IsoId=Q8N0V5-1; Sequence=External;
CC       Name=B; Synonyms=IGNTB, IGNT2;
CC         IsoId=Q06430-1; Sequence=External;
CC         Note=Expressed in lens epithelium cells;
CC   -!- SIMILARITY: Belongs to the glycosyltransferase 14 family.
CC   -!- WEB RESOURCE: Name=GGDB; Note=GlycoGene database;
CC       URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GCNT2";
CC   -!- WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=N-
CC       acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase;
CC       URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_548";
CC   -!- GENE_FAMILY: HOG000293251 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000111846;ENST00000265012;ENSP00000265012.
DR   EMBL; AB078433; - ;
DR   EMBL; AF458026; - ;
DR   EMBL; AF458027; - ;
DR   EMBL; AF458028; - ;
DR   EMBL; AF458029; - ;
DR   EMBL; AF458030; - ;
DR   EMBL; AK313426; - ;
DR   EMBL; AL358777; - ;
DR   EMBL; AY435147; - ;
DR   EMBL; BC130524; - ;
DR   EMBL; BX647576; - ;
DR   EMBL; CH471087; - ;
DR   UniProtKB/Swiss-Prot; Q8NFS9; Q5T4J1; Q6T5E5; -.
DR   EMBL; AF458026; AAM73866.1; -; mRNA.
DR   EMBL; AB078433; BAC66782.1; -; mRNA.
DR   EMBL; AY435147; AAR95648.1; -; mRNA.
DR   EMBL; BX647576; CAI46081.1; -; mRNA.
DR   EMBL; AK313426; BAG36218.1; -; mRNA.
DR   EMBL; AL358777; CAI13997.2; -; Genomic_DNA.
DR   EMBL; CH471087; EAW55259.1; -; Genomic_DNA.
DR   EMBL; BC130524; AAI30525.1; -; mRNA.
DR   IPI; IPI00645767; -.
DR   RefSeq; NP_001482.1; NM_001491.2.
DR   RefSeq; NP_663630.2; NM_145655.3.
DR   UniGene; Hs.519884; -.
DR   ProteinModelPortal; Q8NFS9; -.
DR   STRING; Q8NFS9; -.
DR   CAZy; GT14; Glycosyltransferase Family 14.
DR   PRIDE; Q8NFS9; -.
DR   Ensembl; ENST00000265012; ENSP00000265012; ENSG00000111846.
DR   GeneID; 2651; -.
DR   KEGG; hsa:2651; -.
DR   CTD; 2651; -.
DR   GeneCards; GC06P010397; -.
DR   HGNC; HGNC:4204; GCNT2.
DR   HPA; HPA026776; -.
DR   MIM; 110800; phenotype.
DR   MIM; 600429; gene.
DR   neXtProt; NX_Q8NFS9; -.
DR   GeneTree; ENSGT00550000074330; -.
DR   OMA; CNHALEK; -.
DR   ArrayExpress; Q8NFS9; -.
DR   Bgee; Q8NFS9; -.
DR   GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR   GO; GO:0008109; F:N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity; IEA:EC.
DR   InterPro; IPR003406; Glyco_trans_14.
DR   Pfam; PF02485; Branch; 1.
DR   HOGENOMDNA; HS6.PE224; -.
KW   ENSG000001118461755old_1320000031; ENSP000002650127901old_1320000031;
KW   Q8NFS5_HUMAN; Q8NFS6_HUMAN; Q8NFS7_HUMAN; Q8NFS8_HUMAN; AB078433;
KW   AF458027; AF458028; AF458029; AF458030; AK313426; AL358777; AY435147;
KW   BX647576; CH471087;
KW   Alternative splicing; Complete proteome; Glycoprotein;
KW   Glycosyltransferase; Golgi apparatus; Membrane; Reference proteome;
KW   Signal-anchor; Transferase; Transmembrane; Transmembrane helix.
SQ   SEQUENCE   402 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MNFWRYCFFA FTLLSVVIFV RFYSSQLSPP KSYEKLNSSS ERYFRKTACN HALEKMPVFL
     WENILPSPLR SVPCKDYLTQ NHYITSPLSE EEAAFPLAYV MVIHKDFDTF ERLFRAIYMP
     QNVYCVHVDE KAPAEYKESV RQLLSCFQNA FIASKTESVV YAGISRLQAD LNCLKDLVAS
     EVPWKYVINT CGQDFPLKTN REIVQHLKGF KGKNITPGVL PPDHAIKRTK YVHQEHTDKG
     GFFVKNTNIL KTSPPHQLTI YFGTAYVALT RDFVDFVLRD QRAIDLLQWS KDTYSPDEHF
     WVTLNRVSGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG NGDLKWLVNS
     PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW YF
//

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