Q6L9W6 (B4GN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-1,4-N-acetylgalactosaminyltransferase 3
Short name=B4GalNAcT3
Short name=Beta4GalNAc-T3
Short name=Beta4GalNAcT3
EC=2.4.1.244

Alternative name(s):
Beta-1,4-N-acetylgalactosaminyltransferase III
N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2
Short name=NGalNAc-T2

Gene names

Name:

B4GALNT3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	998 AA.
Sequence status	Complete.
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-alpha-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.
Sequence caution	The sequence BAC05141.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAD18454.1 differs from that shown. Reason: Probable intron retention.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell 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 acetylgalactosaminyltransferase activity Inferred from direct assay Ref.1. Source: HGNC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 998	998	Beta-1,4-N-acetylgalactosaminyltransferase 3		PRO_0000252368
Regions
	Topological domain	1 – 24	24	Cytoplasmic Potential
	Transmembrane	25 – 45	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	46 – 998	953	Lumenal Potential
Natural variations
	Natural variant	59	1	G → S. Corresponds to variant rs2075033 [ dbSNP | Ensembl ].		VAR_027842
	Natural variant	265	1	R → Q. Corresponds to variant rs11063529 [ dbSNP | Ensembl ].		VAR_027843
	Natural variant	411	1	K → R. Ref.1 Corresponds to variant rs7298766 [ dbSNP | Ensembl ].		VAR_027844
	Natural variant	768	1	R → Q. Corresponds to variant rs11063570 [ dbSNP | Ensembl ].		VAR_048717
	Natural variant	992	1	R → H. Corresponds to variant rs36078145 [ dbSNP | Ensembl ].		VAR_048718

Sequences

	Sequence		Length	Mass (Da)
	Q6L9W6 [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

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 540-998. 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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB089940 mRNA. Translation: BAD02449.1. AK097681 mRNA. Translation: BAC05141.1. Different initiation. AK131277 mRNA. Translation: BAD18454.1. Sequence problems. AC005844 Genomic DNA. No translation available. AC006205 Genomic DNA. No translation available.
IPI	IPI00414042.
RefSeq	NP_775864.3. NM_173593.3.
UniGene	Hs.504416.
3D structure databases
ProteinModelPortal	Q6L9W6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000266383.
Protein family/group databases
CAZy	GT7. Glycosyltransferase Family 7.
PTM databases
PhosphoSite	Q6L9W6.
Polymorphism databases
DMDM	161789024.
Proteomic databases
PaxDb	Q6L9W6.
PRIDE	Q6L9W6.
Protocols and materials databases
DNASU	283358.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266383; ENSP00000266383; ENSG00000139044.
GeneID	283358.
KEGG	hsa:283358.
UCSC	uc001qii.1. human.
Organism-specific databases
CTD	283358.
GeneCards	GC12P000569.
H-InvDB	HIX0201853.
HGNC	HGNC:24137. B4GALNT3.
HPA	HPA011404.
MIM	612220. gene.
neXtProt	NX_Q6L9W6.
PharmGKB	PA142672564.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG70066.
HOGENOM	HOG000071102.
HOVERGEN	HBG080886.
InParanoid	Q6L9W6.
KO	K09656.
OMA	QWPEGYW.
OrthoDB	EOG42RD6V.
PhylomeDB	Q6L9W6.
Enzyme and pathway databases
BRENDA	2.4.1.244. 2681.
Gene expression databases
ArrayExpress	Q6L9W6.
Bgee	Q6L9W6.
CleanEx	HS_B4GALNT3.
Genevestigator	Q6L9W6.
GermOnline	ENSG00000139044. Homo sapiens.
Family and domain databases
Gene3D	3.90.182.10. 1 hit.
InterPro	IPR008428. Chond_GalNAc. IPR011658. PA14. [Graphical view]
PANTHER	PTHR12369. PTHR12369. 1 hit.
Pfam	PF05679. CHGN. 1 hit. PF07691. PA14. 1 hit. [Graphical view]
SMART	SM00758. PA14. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	B4GALNT3. human.
GenomeRNAi	283358.
NextBio	93835.
SOURCE	Search...

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:	May 29, 2013
This is version 81 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.