Reviewed, UniProtKB/Swiss-Prot Q02742 (GCNT1_HUMAN)

Names and origin

Protein names

Recommended name:
    Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase
    EC=2.4.1.102
Alternative name(s):
    Core 2-branching enzyme
    Core2-GlcNAc-transferase
      Short name=Core 2 GNT
      Short name=C2GNT

Gene names

Name:	GCNT1
Synonyms:	NACGT2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	428 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Forms critical branches in O-glycans.
Catalytic activity	UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-1,3-N-acetyl-D-galactosaminyl-R = UDP + beta-D-galactosyl-1,3-(N-acetyl-beta-D-glucosaminyl-1,6)-N-acetyl-D-galactosaminyl-R.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein.
Tissue specificity	Highly expressed in activated T-lymphocytes and myeloid cells.
Sequence similarities	Belongs to the glycosyltransferase 14 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	protein amino acid O-linked glycosylation Ref.1 Traceable author statement. Source: ProtInc
Cellular component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Ref.1 Traceable author statement. Source: ProtInc
Molecular function	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 428	428	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase		PRO_0000191395
Regions
	Topological domain	1 – 9	9	Cytoplasmic Potential
	Transmembrane	10 – 32	23	Signal-anchor for type II membrane protein Potential
	Topological domain	33 – 428	396	Lumenal Potential
	Region	33 – 121	89	Stem region By similarity
	Region	122 – 428	307	Catalytic By similarity
Sites
	Active site	320	1	By similarity
Amino acid modifications
	Modified residue	267	1	Phosphothreonine By similarity
	Glycosylation	52	1	N-linked (GlcNAc...) Potential
	Glycosylation	58	1	N-linked (GlcNAc...) Potential
	Glycosylation	95	1	N-linked (GlcNAc...) Potential
	Disulfide bond	59 ↔ 413		By similarity
	Disulfide bond	100 ↔ 172		By similarity
	Disulfide bond	151 ↔ 199		By similarity
	Disulfide bond	372 ↔ 381		By similarity
Natural variations
	Natural variant	152	1	I → V: dbSNP rs2282683. Ref.1 Ref.2		VAR_048000
	Natural variant	158	1	S → C: dbSNP rs11546569.		VAR_048001

Sequences

	Sequence		Length	Mass (Da)
	Q02742-1 [UniParc]. Last modified December 16, 2008. Version 2. Checksum: 71D71A251874E1F0	FASTA	428	49,799
	10 20 30 40 50 60 MLRTLLRRRL FSYPTKYYFM VLVLSLITFS VLRIHQKPEF VSVRHLELAG ENPSSDINCT 70 80 90 100 110 120 KVLQGDVNEI QKVKLEILTV KFKKRPRWTP DDYINMTSDC SSFIKRRKYI VEPLSKEEAE 130 140 150 160 170 180 FPIAYSIVVH HKIEMLDRLL RAIYMPQNFY CIHVDTKSED SYLAAVMGIA SCFSNVFVAS 190 200 210 220 230 240 RLESVVYASW SRVQADLNCM KDLYAMSANW KYLINLCGMD FPIKTNLEIV RKLKLLMGEN 250 260 270 280 290 300 NLETERMPSH KEERWKKRYE VVNGKLTNTG TVKMLPPLET PLFSGSAYFV VSREYVGYVL 310 320 330 340 350 360 QNEKIQKLME WAQDTYSPDE YLWATIQRIP EVPGSLPASH KYDLSDMQAV ARFVKWQYFE 370 380 390 400 410 420 GDVSKGAPYP PCDGVHVRSV CIFGAGDLNW MLRKHHLFAN KFDVDVDLFA IQCLDEHLRH KALETLKH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression cloning of a cDNA encoding UDP-GlcNAc:Gal beta 1-3-GalNAc-R (GlcNAc to GalNAc) beta 1-6GlcNAc transferase by gene transfer into CHO cells expressing polyoma large tumor antigen." Bierhuizen M.F.A., Fukuda M. Proc. Natl. Acad. Sci. U.S.A. 89:9326-9330(1992) [PubMed: 1329093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-152.
[2]	"Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family." Bierhuizen M.F.A., Maemura K., Kudo S., Fukuda M. Glycobiology 5:417-425(1995) [PubMed: 7579796] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-152. Tissue: Placenta.
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

Cross-references

Sequence databases
EMBL GenBank DDBJ	M97347 mRNA. Translation: AAA35919.1. L41415 Genomic DNA. Translation: AAA96661.1. AL161626 Genomic DNA. Translation: CAI39746.1. CH471089 Genomic DNA. Translation: EAW62580.1. BC074885 mRNA. Translation: AAH74885.1. BC074886 mRNA. Translation: AAH74886.1. BC109101 mRNA. Translation: AAI09102.1. BC109102 mRNA. Translation: AAI09103.1.
IPI	IPI00295368.
PIR	A46293.
RefSeq	NP_001091102.1. NP_001091103.1. NP_001091104.1. NP_001091105.1. NP_001481.2.
UniGene	Hs.521568
3D structure databases
SMR	Q02742. Positions 56-424.
ModBase	Search...
Protein-protein interaction databases
STRING	Q02742.
Protein family/group databases
CAZy	GT14. Glycosyltransferase Family 14.
PTM databases
PhosphoSite	Q02742.
Genome annotation databases
Ensembl	ENST00000376730; ENSP00000365920; ENSG00000187210; Homo sapiens. [Genome view] ENST00000436305; ENSP00000392436; ENSG00000187210; Homo sapiens. [Genome view] ENST00000442371; ENSP00000415454; ENSG00000187210; Homo sapiens. [Genome view] ENST00000444201; ENSP00000390703; ENSG00000187210; Homo sapiens. [Genome view]
GeneID	2650.
KEGG	hsa:2650.
Organism-specific databases
CTD	2650.
GeneCards	GC09P078263.
H-InvDB	HIX0008111.
HGNC	HGNC:4203. GCNT1.
MIM	600391. gene.
PharmGKB	PA168.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04535.
HOGENOM	HBG446687.
HOVERGEN	Q02742.
InParanoid	Q02742.
OMA	FSGSAYF.
OrthoDB	EOG9K9DZK.
PhylomeDB	Q02742.
Enzyme and pathway databases
BRENDA	2.4.1.102. 247.
Gene expression databases
ArrayExpress	Q02742.
Bgee	Q02742.
CleanEx	HS_GCNT1.
Genevestigator	Q02742.
GermOnline	ENSG00000187210. Homo sapiens.
Family and domain databases
InterPro	IPR021141. Core-2/I-Branching_enzyme. IPR003406. Glyco_trans_14. [Graphical view]
PANTHER	PTHR19297. Glyco_trans_14. 1 hit.
Pfam	PF02485. Branch. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

GCNT1_HUMAN

Accession

Primary (citable) accession number: Q02742
Secondary accession number(s): Q6DJZ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	December 16, 2008
Last modified:	February 9, 2010
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.