Reviewed, UniProtKB/Swiss-Prot Q6L9W6 (B4GN3_HUMAN)

Names and origin

Protein names

Recommended name:
    N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2
      Short name=NGalNAc-T2
    EC=2.4.1.244
Alternative name(s):
    Beta-1,4-N-acetylgalactosaminyltransferase III
      Short name=Beta4GalNAc-T3
      Short name=Beta4GalNAcT3

Gene names

Name:

B4GALNT3

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	998 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N'-diacetyllactosediamine formation on gastric mucosa. Ref.4
Catalytic activity	UDP-N-acetyl-D-galactosamine + N-acetyl-beta-D-glucosaminyl group = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl group. Ref.1
Subcellular location	Golgi apparatus › Golgi stack membrane; Single-pass type II membrane protein. Note= Localizes to apical Golgi. Ref.4
Tissue specificity	Highly expressed in testis, colon and stomach. Weakly expressed in other tissues. Ref.1
Sequence similarities	Belongs to the chondroitin N-acetylgalactosaminyltransferase family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane
Molecular function	Transferase
Gene Ontology (GO)
Cellular component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q6L9W6-1)

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: Q6L9W6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-451: Missing.

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 998	998	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2		PRO_0000252368
Regions
	Topological domain	1 – 24	24	Cytoplasmic Potential
	Transmembrane	25 – 45	21	Signal-anchor for type II membrane protein Potential
	Topological domain	46 – 998	953	Lumenal Potential
Natural variations
	Alternative sequence	1 – 451	451	Missing in isoform 2.		VSP_020916
	Natural variant	59	1	G → S: dbSNP rs2075033.		VAR_027842
	Natural variant	265	1	R → Q: dbSNP rs11063529.		VAR_027843
	Natural variant	411	1	K → R: dbSNP rs7298766. Ref.1		VAR_027844
	Natural variant	768	1	R → Q: dbSNP rs11063570.		VAR_048717
	Natural variant	992	1	R → H: dbSNP rs36078145.		VAR_048718

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 4, 2007. Version 2. Checksum: 1FDA8490C8FA1D0B	FASTA	998	114,975
	10 20 30 40 50 60 MGSPRAARPP LLLRPVKLLR RRFRLLLALA VVSVGLWTLY LELVASAQVG GNPLNRRYGS 70 80 90 100 110 120 WRELAKALAS RNIPAVDPHL QFYHPQRLSL EDHDIDQGVS SNSSYLKWNK PVPWLSEFRG 130 140 150 160 170 180 RANLHVFEDW CGSSIQQLRR NLHFPLYPHI RTTLRKLAVS PKWTNYGLRI FGYLHPFTDG 190 200 210 220 230 240 KIQFAIAADD NAEFWLSLDD QVSGLQLLAS VGKTGKEWTA PGEFGKFRSQ ISKPVSLSAS 250 260 270 280 290 300 HRYYFEVLHK QNEEGTDHVE VAWRRNDPGA KFTIIDSLSL SLFTNETFLQ MDEVGHIPQT 310 320 330 340 350 360 AASHVDSSNA LPRDEQPPAD MLRPDPRDTL YRVPLIPKSH LRHVLPDCPY KPSYLVDGLP 370 380 390 400 410 420 LQRYQGLRFV HLSFVYPNDY TRLSHMETHN KCFYQENAYY QDRFSFQEYI KIDQPEKQGL 430 440 450 460 470 480 EQPGFEENLL EESQYGEVAE ETPASNNQNA RMLEGRQTPA STLEQDATDY RLRSLRKLLA 490 500 510 520 530 540 QPREGLLAPF SKRNSTASFP GRTSHIPVQQ PEKRKQKPSP EPSQDSPHSD KWPPGHPVKN 550 560 570 580 590 600 LPQMRGPRPR PAGDSPRKTQ WLNQVESYIA EQRRGDRMRP QAPGRGWHGE EEVVAAAGQE 610 620 630 640 650 660 GQVEGEEEGE EEEEEEDMSE VFEYVPVFDP VVNWDQTFSA RNLDFQALRT DWIDLSCNTS 670 680 690 700 710 720 GNLLLPEQEA LEVTRVFLKK LNQRSRGRYQ LQRIVNVEKR QDQLRGGRYL LELELLEQGQ 730 740 750 760 770 780 RVVRLSEYVS ARGWQGIDPA GGEEVEARNL QGLVWDPHNR RRQVLNTRAQ EPKLCWPQGF 790 800 810 820 830 840 SWSHRAVVHF VVPVKNQARW VQQFIKDMEN LFQVTGDPHF NIVITDYSSE DMDVEMALKR 850 860 870 880 890 900 SKLRSYQYVK LSGNFERSAG LQAGIDLVKD PHSIIFLCDL HIHFPAGVID AIRKHCVEGK 910 920 930 940 950 960 MAFAPMVMRL HCGATPQWPE GYWEVNGFGL LGIYKSDLDR IGGMNTKEFR DRWGGEDWEL 970 980 990 LDRILQAGLD VERLSLRNFF HHFHSKRGMW SRRQMKTL
	Isoform 2. Checksum: 76952A64FB198A84		547	63,125
	10 20 30 40 50 60 MLEGRQTPAS TLEQDATDYR LRSLRKLLAQ PREGLLAPFS KRNSTASFPG RTSHIPVQQP 70 80 90 100 110 120 EKRKQKPSPE PSQDSPHSDK WPPGHPVKNL PQMRGPRPRP AGDSPRKTQW LNQVESYIAE 130 140 150 160 170 180 QRRGDRMRPQ APGRGWHGEE EVVAAAGQEG QVEGEEEGEE EEEEEDMSEV FEYVPVFDPV 190 200 210 220 230 240 VNWDQTFSAR NLDFQALRTD WIDLSCNTSG NLLLPEQEAL EVTRVFLKKL NQRSRGRYQL 250 260 270 280 290 300 QRIVNVEKRQ DQLRGGRYLL ELELLEQGQR VVRLSEYVSA RGWQGIDPAG GEEVEARNLQ 310 320 330 340 350 360 GLVWDPHNRR RQVLNTRAQE PKLCWPQGFS WSHRAVVHFV VPVKNQARWV QQFIKDMENL 370 380 390 400 410 420 FQVTGDPHFN IVITDYSSED MDVEMALKRS KLRSYQYVKL SGNFERSAGL QAGIDLVKDP 430 440 450 460 470 480 HSIIFLCDLH IHFPAGVIDA IRKHCVEGKM AFAPMVMRLH CGATPQWPEG YWEVNGFGLL 490 500 510 520 530 540 GIYKSDLDRI GGMNTKEFRD RWGGEDWELL DRILQAGLDV ERLSLRNFFH HFHSKRGMWS RRQMKTL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a novel human beta 1,4-N-acetylgalactosaminyltransferase, beta 4GalNAc-T3, responsible for the synthesis of N,N'-diacetyllactosediamine, galNAc beta 1-4GlcNAc." Sato T., Gotoh M., Kiyohara K., Kameyama A., Kubota T., Kikuchi N., Ishizuka Y., Iwasaki H., Togayachi A., Kudo T., Ohkura T., Nakanishi H., Narimatsu H. J. Biol. Chem. 278:47534-47544(2003) [PubMed: 12966086] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CATALYTIC ACTIVITY, TISSUE SPECIFICITY, VARIANT ARG-411.
[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] (ISOFORM 2). Tissue: Testis and Tongue.
[3]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa." Ikehara Y., Sato T., Niwa T., Nakamura S., Gotoh M., Ikehara S.K., Kiyohara K., Aoki C., Iwai T., Nakanishi H., Hirabayashi J., Tatematsu M., Narimatsu H. Glycobiology 16:777-785(2006) [PubMed: 16728562] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB089940 mRNA. Translation: BAD02449.1. AK097681 mRNA. Translation: BAC05141.1. Different initiation. AK131277 mRNA. Translation: BAD18454.1. AC005844 Genomic DNA. No translation available. AC006205 Genomic DNA. No translation available.
RefSeq	NP_775864.3.
UniGene	Hs.504416
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q6L9W6.
Genome annotation databases
Ensembl	ENSG00000139044. Homo sapiens. [Contig view]
GeneID	283358.
KEGG	hsa:283358.
NMPDR	fig|9606.3.peg.6931.
Organism-specific databases
GeneCards	GC12P000440.
H-InvDB	HIX0010310.
HGNC	HGNC:24137. B4GALNT3.
HPA	HPA011404.
PharmGKB	PA142672564.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q6L9W6.
Gene expression databases
ArrayExpress	Q6L9W6.
CleanEx	HS_B4GALNT3.
GermOnline	ENSG00000139044. Homo sapiens.
Family and domain databases
InterPro	IPR008428. Chond_GalNAc. IPR011658. PA14. [Graphical view]
PANTHER	PTHR12369. CHGN. 1 hit.
Pfam	PF07691. PA14. 1 hit. [Graphical view]
SMART	SM00758. PA14. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	93835.

Entry information

Entry name

B4GN3_HUMAN

Accession

Primary (citable) accession number: Q6L9W6
Secondary accession number(s): Q6ZNC1, Q8N7T6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
Last sequence update:	December 4, 2007
Last modified:	December 16, 2008
This is version 35 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)