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Protein

Beta-1,4-N-acetylgalactosaminyltransferase 3

Gene

B4GALNT3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

Keywordsi

Molecular functionTransferase

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:24137. B4GALNT3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 24CytoplasmicSequence analysisAdd BLAST24
Transmembranei25 – 45Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini46 – 998LumenalSequence analysisAdd BLAST953

GO - Cellular componenti

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi283358.
OpenTargetsiENSG00000139044.
PharmGKBiPA142672564.

Polymorphism and mutation databases

BioMutaiB4GALNT3.
DMDMi161789024.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002523681 – 998Beta-1,4-N-acetylgalactosaminyltransferase 3Add BLAST998

Proteomic databases

EPDiQ6L9W6.
PaxDbiQ6L9W6.
PeptideAtlasiQ6L9W6.
PRIDEiQ6L9W6.

PTM databases

iPTMnetiQ6L9W6.
PhosphoSitePlusiQ6L9W6.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000139044.
CleanExiHS_B4GALNT3.
ExpressionAtlasiQ6L9W6. baseline and differential.
GenevisibleiQ6L9W6. HS.

Organism-specific databases

HPAiHPA011404.

Interactioni

Protein-protein interaction databases

BioGridi129537. 4 interactors.
STRINGi9606.ENSP00000266383.

Structurei

3D structure databases

ProteinModelPortaliQ6L9W6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini117 – 278PA14PROSITE-ProRule annotationAdd BLAST162

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3588. Eukaryota.
ENOG410XNYM. LUCA.
GeneTreeiENSGT00760000119143.
HOGENOMiHOG000071102.
HOVERGENiHBG080886.
InParanoidiQ6L9W6.
KOiK09656.
OMAiGKMAFAP.
OrthoDBiEOG091G011K.
PhylomeDBiQ6L9W6.
TreeFamiTF318303.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiView protein in InterPro
IPR008428. Chond_GalNAc.
IPR029044. Nucleotide-diphossugar_trans.
IPR011658. PA14_dom.
PfamiView protein in Pfam
PF05679. CHGN. 1 hit.
PF07691. PA14. 1 hit.
SMARTiView protein in SMART
SM00758. PA14. 1 hit.
SUPFAMiSSF53448. SSF53448. 1 hit.
PROSITEiView protein in PROSITE
PS51820. PA14. 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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18454 differs from that shown. Probable intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02784259G → S. Corresponds to variant dbSNP:rs2075033Ensembl.1
Natural variantiVAR_027843265R → Q. Corresponds to variant dbSNP:rs11063529Ensembl.1
Natural variantiVAR_027844411K → R1 PublicationCorresponds to variant dbSNP:rs7298766Ensembl.1
Natural variantiVAR_048717768R → Q. Corresponds to variant dbSNP:rs11063570Ensembl.1
Natural variantiVAR_048718992R → H. Corresponds to variant dbSNP:rs36078145Ensembl.1

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.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiB4GN3_HUMAN
AccessioniPrimary (citable) accession number: Q6L9W6
Secondary accession number(s): Q6ZNC1, Q8N7T6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: December 4, 2007
Last modified: August 30, 2017
This is version 110 of the entry and version 2 of the sequence. See 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