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Q6L9W6 (B4GN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length998 AA.
Sequence statusComplete.
Protein existenceEvidence 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 apparatusGolgi 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 998998Beta-1,4-N-acetylgalactosaminyltransferase 3
PRO_0000252368

Regions

Topological domain1 – 2424Cytoplasmic Potential
Transmembrane25 – 4521Helical; Signal-anchor for type II membrane protein; Potential
Topological domain46 – 998953Lumenal Potential

Natural variations

Natural variant591G → S.
Corresponds to variant rs2075033 [ dbSNP | Ensembl ].
VAR_027842
Natural variant2651R → Q.
Corresponds to variant rs11063529 [ dbSNP | Ensembl ].
VAR_027843
Natural variant4111K → R. Ref.1
Corresponds to variant rs7298766 [ dbSNP | Ensembl ].
VAR_027844
Natural variant7681R → Q.
Corresponds to variant rs11063570 [ dbSNP | Ensembl ].
VAR_048717
Natural variant9921R → H.
Corresponds to variant rs36078145 [ dbSNP | Ensembl ].
VAR_048718

Sequences

Sequence LengthMass (Da)Tools
Q6L9W6 [UniParc].

Last modified December 4, 2007. Version 2.
Checksum: 1FDA8490C8FA1D0B

FASTA998114,975
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_775864.3. NM_173593.3.
UniGeneHs.504416.

3D structure databases

ProteinModelPortalQ6L9W6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000266383.

Protein family/group databases

CAZyGT7. Glycosyltransferase Family 7.

PTM databases

PhosphoSiteQ6L9W6.

Polymorphism databases

DMDM161789024.

Proteomic databases

PaxDbQ6L9W6.
PRIDEQ6L9W6.

Protocols and materials databases

DNASU283358.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000266383; ENSP00000266383; ENSG00000139044.
GeneID283358.
KEGGhsa:283358.
UCSCuc001qii.1. human.

Organism-specific databases

CTD283358.
GeneCardsGC12P000569.
H-InvDBHIX0201853.
HGNCHGNC:24137. B4GALNT3.
HPAHPA011404.
MIM612220. gene.
neXtProtNX_Q6L9W6.
PharmGKBPA142672564.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70066.
HOGENOMHOG000071102.
HOVERGENHBG080886.
InParanoidQ6L9W6.
KOK09656.
OMAQWPEGYW.
PhylomeDBQ6L9W6.
TreeFamTF318303.

Enzyme and pathway databases

BRENDA2.4.1.244. 2681.

Gene expression databases

ArrayExpressQ6L9W6.
BgeeQ6L9W6.
CleanExHS_B4GALNT3.
GenevestigatorQ6L9W6.

Family and domain databases

Gene3D3.90.182.10. 1 hit.
InterProIPR008428. Chond_GalNAc.
IPR011658. PA14.
[Graphical view]
PANTHERPTHR12369. PTHR12369. 1 hit.
PfamPF05679. CHGN. 1 hit.
PF07691. PA14. 1 hit.
[Graphical view]
SMARTSM00758. PA14. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSB4GALNT3. human.
GenomeRNAi283358.
NextBio93835.
PROQ6L9W6.
SOURCESearch...

Entry information

Entry nameB4GN3_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM