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Q6L9W6

- B4GN3_HUMAN

UniProt

Q6L9W6 - B4GN3_HUMAN

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Protein

Beta-1,4-N-acetylgalactosaminyltransferase 3

Gene

B4GALNT3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

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.1 Publication

GO - Molecular functioni

  1. acetylgalactosaminyltransferase activity Source: HGNC
  2. N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. metabolic process Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Enzyme and pathway databases

BRENDAi2.4.1.244. 2681.

Protein family/group databases

CAZyiGT7. Glycosyltransferase Family 7.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,4-N-acetylgalactosaminyltransferase 3 (EC:2.4.1.244)
Short name:
B4GalNAcT3
Short name:
Beta4GalNAc-T3
Short name:
Beta4GalNAcT3
Alternative name(s):
Beta-1,4-N-acetylgalactosaminyltransferase III
N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2
Short name:
NGalNAc-T2
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:24137. B4GALNT3.

Subcellular locationi

Golgi apparatusGolgi stack membrane 1 Publication; Single-pass type II membrane protein 1 Publication
Note: Localizes to apical Golgi.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2424CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei25 – 4521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini46 – 998953LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi cisterna membrane Source: InterPro
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672564.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 998998Beta-1,4-N-acetylgalactosaminyltransferase 3PRO_0000252368Add
BLAST

Proteomic databases

PaxDbiQ6L9W6.
PRIDEiQ6L9W6.

PTM databases

PhosphoSiteiQ6L9W6.

Expressioni

Tissue specificityi

Highly expressed in testis, colon and stomach. Weakly expressed in other tissues.1 Publication

Gene expression databases

BgeeiQ6L9W6.
CleanExiHS_B4GALNT3.
ExpressionAtlasiQ6L9W6. baseline and differential.
GenevestigatoriQ6L9W6.

Organism-specific databases

HPAiHPA011404.

Interactioni

Protein-protein interaction databases

BioGridi129537. 1 interaction.
STRINGi9606.ENSP00000266383.

Structurei

3D structure databases

ProteinModelPortaliQ6L9W6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG70066.
GeneTreeiENSGT00760000119143.
HOGENOMiHOG000071102.
HOVERGENiHBG080886.
InParanoidiQ6L9W6.
KOiK09656.
OMAiQWPEGYW.
PhylomeDBiQ6L9W6.
TreeFamiTF318303.

Family and domain databases

Gene3Di3.90.182.10. 1 hit.
3.90.550.10. 1 hit.
InterProiIPR008428. Chond_GalNAc.
IPR029044. Nucleotide-diphossugar_trans.
IPR011658. PA14.
[Graphical view]
PfamiPF05679. CHGN. 1 hit.
PF07691. PA14. 1 hit.
[Graphical view]
SMARTiSM00758. PA14. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6L9W6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGSPRAARPP LLLRPVKLLR RRFRLLLALA VVSVGLWTLY LELVASAQVG
60 70 80 90 100
GNPLNRRYGS WRELAKALAS RNIPAVDPHL QFYHPQRLSL EDHDIDQGVS
110 120 130 140 150
SNSSYLKWNK PVPWLSEFRG RANLHVFEDW CGSSIQQLRR NLHFPLYPHI
160 170 180 190 200
RTTLRKLAVS PKWTNYGLRI FGYLHPFTDG KIQFAIAADD NAEFWLSLDD
210 220 230 240 250
QVSGLQLLAS VGKTGKEWTA PGEFGKFRSQ ISKPVSLSAS HRYYFEVLHK
260 270 280 290 300
QNEEGTDHVE VAWRRNDPGA KFTIIDSLSL SLFTNETFLQ MDEVGHIPQT
310 320 330 340 350
AASHVDSSNA LPRDEQPPAD MLRPDPRDTL YRVPLIPKSH LRHVLPDCPY
360 370 380 390 400
KPSYLVDGLP LQRYQGLRFV HLSFVYPNDY TRLSHMETHN KCFYQENAYY
410 420 430 440 450
QDRFSFQEYI KIDQPEKQGL EQPGFEENLL EESQYGEVAE ETPASNNQNA
460 470 480 490 500
RMLEGRQTPA STLEQDATDY RLRSLRKLLA QPREGLLAPF SKRNSTASFP
510 520 530 540 550
GRTSHIPVQQ PEKRKQKPSP EPSQDSPHSD KWPPGHPVKN LPQMRGPRPR
560 570 580 590 600
PAGDSPRKTQ WLNQVESYIA EQRRGDRMRP QAPGRGWHGE EEVVAAAGQE
610 620 630 640 650
GQVEGEEEGE EEEEEEDMSE VFEYVPVFDP VVNWDQTFSA RNLDFQALRT
660 670 680 690 700
DWIDLSCNTS GNLLLPEQEA LEVTRVFLKK LNQRSRGRYQ LQRIVNVEKR
710 720 730 740 750
QDQLRGGRYL LELELLEQGQ RVVRLSEYVS ARGWQGIDPA GGEEVEARNL
760 770 780 790 800
QGLVWDPHNR RRQVLNTRAQ EPKLCWPQGF SWSHRAVVHF VVPVKNQARW
810 820 830 840 850
VQQFIKDMEN LFQVTGDPHF NIVITDYSSE DMDVEMALKR SKLRSYQYVK
860 870 880 890 900
LSGNFERSAG LQAGIDLVKD PHSIIFLCDL HIHFPAGVID AIRKHCVEGK
910 920 930 940 950
MAFAPMVMRL HCGATPQWPE GYWEVNGFGL LGIYKSDLDR IGGMNTKEFR
960 970 980 990
DRWGGEDWEL LDRILQAGLD VERLSLRNFF HHFHSKRGMW SRRQMKTL
Length:998
Mass (Da):114,975
Last modified:December 4, 2007 - v2
Checksum:i1FDA8490C8FA1D0B
GO

Sequence cautioni

The sequence BAC05141.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18454.1 differs from that shown. Reason: Probable intron retention.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591G → S.
Corresponds to variant rs2075033 [ dbSNP | Ensembl ].
VAR_027842
Natural varianti265 – 2651R → Q.
Corresponds to variant rs11063529 [ dbSNP | Ensembl ].
VAR_027843
Natural varianti411 – 4111K → R.1 Publication
Corresponds to variant rs7298766 [ dbSNP | Ensembl ].
VAR_027844
Natural varianti768 – 7681R → Q.
Corresponds to variant rs11063570 [ dbSNP | Ensembl ].
VAR_048717
Natural varianti992 – 9921R → H.
Corresponds to variant rs36078145 [ dbSNP | Ensembl ].
VAR_048718

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS8504.1.
RefSeqiNP_775864.3. NM_173593.3.
UniGeneiHs.504416.

Genome annotation databases

EnsembliENST00000266383; ENSP00000266383; ENSG00000139044.
GeneIDi283358.
KEGGihsa:283358.
UCSCiuc001qii.1. human.

Polymorphism databases

DMDMi161789024.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS8504.1.
RefSeqi NP_775864.3. NM_173593.3.
UniGenei Hs.504416.

3D structure databases

ProteinModelPortali Q6L9W6.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129537. 1 interaction.
STRINGi 9606.ENSP00000266383.

Protein family/group databases

CAZyi GT7. Glycosyltransferase Family 7.

PTM databases

PhosphoSitei Q6L9W6.

Polymorphism databases

DMDMi 161789024.

Proteomic databases

PaxDbi Q6L9W6.
PRIDEi Q6L9W6.

Protocols and materials databases

DNASUi 283358.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000266383 ; ENSP00000266383 ; ENSG00000139044 .
GeneIDi 283358.
KEGGi hsa:283358.
UCSCi uc001qii.1. human.

Organism-specific databases

CTDi 283358.
GeneCardsi GC12P000569.
H-InvDB HIX0201853.
HGNCi HGNC:24137. B4GALNT3.
HPAi HPA011404.
MIMi 612220. gene.
neXtProti NX_Q6L9W6.
PharmGKBi PA142672564.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70066.
GeneTreei ENSGT00760000119143.
HOGENOMi HOG000071102.
HOVERGENi HBG080886.
InParanoidi Q6L9W6.
KOi K09656.
OMAi QWPEGYW.
PhylomeDBi Q6L9W6.
TreeFami TF318303.

Enzyme and pathway databases

BRENDAi 2.4.1.244. 2681.

Miscellaneous databases

ChiTaRSi B4GALNT3. human.
GenomeRNAii 283358.
NextBioi 93835.
PROi Q6L9W6.
SOURCEi Search...

Gene expression databases

Bgeei Q6L9W6.
CleanExi HS_B4GALNT3.
ExpressionAtlasi Q6L9W6. baseline and differential.
Genevestigatori Q6L9W6.

Family and domain databases

Gene3Di 3.90.182.10. 1 hit.
3.90.550.10. 1 hit.
InterProi IPR008428. Chond_GalNAc.
IPR029044. Nucleotide-diphossugar_trans.
IPR011658. PA14.
[Graphical view ]
Pfami PF05679. CHGN. 1 hit.
PF07691. PA14. 1 hit.
[Graphical view ]
SMARTi SM00758. PA14. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiB4GN3_HUMAN
AccessioniPrimary (citable) accession number: Q6L9W6
Secondary accession number(s): Q6ZNC1, Q8N7T6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: December 4, 2007
Last modified: October 29, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3