Q6ZMB0 (B3GN6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
Short name=BGnT-6
Short name=Beta-1,3-Gn-T6
Short name=Beta-1,3-N-acetylglucosaminyltransferase 6
Short name=Beta3Gn-T6
EC=2.4.1.-

Alternative name(s):
Core 3 synthase

Gene names

Name:

B3GNT6

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	384 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive organs.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein Ref.4.
Tissue specificity	Present in stomach and colon (at protein level). Restricted in the stomach, colon and small intestine, where core 3 structure is present. Ref.4
Induction	Down-regulated in gastric and colorectal carcinomas, suggesting that it may be used as a marker for distinguishing between benign adenomas and premalignant lesions (at protein level).
Miscellaneous	Injection into nude mice significantly suppress lung metastasis, indicating that the core structures of O-glycans are profoundly involved in the metastatic capacity of cancer cells.
Sequence similarities	Belongs to the glycosyltransferase 31 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	O-glycan processing, core 3 Non-traceable author statement Ref.1. Source: UniProtKB
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity Non-traceable author statement Ref.1. Source: UniProtKB galactosyltransferase activity Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6ZMB0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q6ZMB0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     25-147: ALQQWFLQAP...RTWGQERSYG → VLQRRRLPPVRPHGPGPARGRPPHPALPHRRRLH
     289-319: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 384	384	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6		PRO_0000289218
Regions
	Topological domain	1 – 12	12	Cytoplasmic Potential
	Transmembrane	13 – 31	19	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	32 – 384	353	Lumenal Potential
Amino acid modifications
	Glycosylation	73	1	N-linked (GlcNAc...) Potential
	Glycosylation	77	1	N-linked (GlcNAc...) Potential
	Glycosylation	196	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	25 – 147	123	ALQQW…ERSYG → VLQRRRLPPVRPHGPGPARG RPPHPALPHRRRLH in isoform 2.		VSP_025963
	Alternative sequence	289 – 319	31	Missing in isoform 2.		VSP_025964
Experimental info
	Sequence conflict	164	1	D → N in BAD18819. Ref.2
	Sequence conflict	191	1	A → T in AAH25357. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 29, 2007. Version 2. Checksum: F76C4577D3008429	FASTA	384	42,748
	10 20 30 40 50 60 MAFPCRRSLT AKTLACLLVG VSFLALQQWF LQAPRSPREE RSPQEETPEG PTDAPAADEP 70 80 90 100 110 120 PSELVPGPPC VANASANATA DFEQLPARIQ DFLRYRHCRH FPLLWDAPAK CAGGRGVFLL 130 140 150 160 170 180 LAVKSAPEHY ERRELIRRTW GQERSYGGRP VRRLFLLGTP GPEDEARAER LAELVALEAR 190 200 210 220 230 240 EHGDVLQWAF ADTFLNLTLK HLHLLDWLAA RCPHARFLLS GDDDVFVHTA NVVRFLQAQP 250 260 270 280 290 300 PGRHLFSGQL MEGSVPIRDS WSKYFVPPQL FPGSAYPVYC SGGGFLLSGP TARALRAAAR 310 320 330 340 350 360 HTPLFPIDDA YMGMCLERAG LAPSGHEGIR PFGVQLPGAQ QSSFDPCMYR ELLLVHRFAP 370 380 YEMLLMWKAL HSPALSCDRG HRVS
	Isoform 2 [UniParc]. Checksum: EFDAC8A10910D774	FASTA	264	29,484
	10 20 30 40 50 60 MAFPCRRSLT AKTLACLLVG VSFLVLQRRR LPPVRPHGPG PARGRPPHPA LPHRRRLHGR 70 80 90 100 110 120 PVRRLFLLGT PGPEDEARAE RLAELVALEA REHGDVLQWA FADTFLNLTL KHLHLLDWLA 130 140 150 160 170 180 ARCPHARFLL SGDDDVFVHT ANVVRFLQAQ PPGRHLFSGQ LMEGSVPIRD SWSKYFVPPQ 190 200 210 220 230 240 LFPGSAYPVY CSGGGFLLSG LAPSGHEGIR PFGVQLPGAQ QSSFDPCMYR ELLLVHRFAP 250 260 YEMLLMWKAL HSPALSCDRG HRVS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a novel UDP-GlcNAc:GalNAc-peptide beta1,3-N-acetylglucosaminyltransferase (beta 3Gn-T6), an enzyme synthesizing the core 3 structure of O-glycans." Iwai T., Inaba N., Naundorf A., Zhang Y., Gotoh M., Iwasaki H., Kudo T., Togayachi A., Ishizuka Y., Nakanishi H., Narimatsu H. J. Biol. Chem. 277:12802-12809(2002) [PubMed: 11821425] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Ileal mucosa.
[3]	"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] (ISOFORM 1). Tissue: Pancreas.
[4]	"Core 3 synthase is down-regulated in colon carcinoma and profoundly suppresses the metastatic potential of carcinoma cells." Iwai T., Kudo T., Kawamoto R., Kubota T., Togayachi A., Hiruma T., Okada T., Kawamoto T., Morozumi K., Narimatsu H. Proc. Natl. Acad. Sci. U.S.A. 102:4572-4577(2005) [PubMed: 15755813] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB073740 mRNA. Translation: BAB88882.1. AK127544 mRNA. Translation: BAC87028.1. AK172863 mRNA. Translation: BAD18819.1. BC025357 mRNA. Translation: AAH25357.1. BC103908 mRNA. Translation: AAI03909.1. BC103909 mRNA. Translation: AAI03910.1. BC103910 mRNA. Translation: AAI03911.1.
IPI	IPI00847164. IPI00977839.
RefSeq	NP_619651.3. NM_138706.3.
UniGene	Hs.352622.
3D structure databases
ProteinModelPortal	Q6ZMB0.
ModBase	Search...
Protein-protein interaction databases
STRING	Q6ZMB0.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31.
Polymorphism databases
DMDM	152033628.
Proteomic databases
PRIDE	Q6ZMB0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000354301; ENSP00000346256; ENSG00000198488.
GeneID	192134.
KEGG	hsa:192134.
Organism-specific databases
CTD	192134.
GeneCards	GC11P076745.
H-InvDB	HIX0026120.
HGNC	HGNC:24141. B3GNT6.
HPA	HPA012158.
neXtProt	NX_Q6ZMB0.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16279.
GeneTree	ENSGT00560000076821.
HOGENOM	HBG714704.
HOVERGEN	HBG050653.
OrthoDB	EOG4MW86H.
Gene expression databases
ArrayExpress	Q6ZMB0.
Bgee	Q6ZMB0.
CleanEx	HS_B3GNT6.
Genevestigator	Q6ZMB0.
Family and domain databases
InterPro	IPR002659. Glyco_trans_31. [Graphical view]
KO	K00739.
PANTHER	PTHR11214. Glyco_trans_31. 1 hit.
Pfam	PF01762. Galactosyl_T. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	89332.

Entry information

Entry name

B3GN6_HUMAN

Accession

Primary (citable) accession number: Q6ZMB0
Secondary accession number(s): Q6ZSC5, Q8TAZ4, Q8TDX1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	May 29, 2007
Last modified:	January 25, 2012
This is version 56 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.