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Protein

Beta-1,4 N-acetylgalactosaminyltransferase 1

Gene

B4galnt1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.1 Publication

Catalytic activityi

UDP-N-acetyl-alpha-D-galactosamine + O-(N-acetyl-alpha-neuraminyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide = UDP + O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide.1 Publication

Pathwayi: Sphingolipid metabolism

This protein is involved in Sphingolipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in Sphingolipid metabolism.

GO - Molecular functioni

  • (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity Source: UniProtKB

GO - Biological processi

  • ganglioside biosynthetic process Source: UniProtKB
  • glycosphingolipid metabolic process Source: MGI
  • lipid glycosylation Source: InterPro
  • lipid storage Source: MGI
  • protein glycosylation Source: UniProtKB-UniPathway
  • spermatogenesis Source: MGI

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BRENDAi2.4.1.92. 3474.
ReactomeiR-MMU-1660662. Glycosphingolipid metabolism.

Protein family/group databases

CAZyiGT12. Glycosyltransferase Family 12.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC:2.4.1.921 Publication)
Alternative name(s):
(N-acetylneuraminyl)-galactosylglucosylceramide
GM2/GD2 synthase1 Publication
GalNAc-T
Gene namesi
Name:B4galnt1
Synonyms:Galgt, Galgt1, Ggm2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:1342057. B4galnt1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 25Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST18
Topological domaini26 – 533LumenalSequence analysisAdd BLAST508

GO - Cellular componenti

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Disruption phenotypei

No visible phenotype, excepting a slight decrease in neural conduction velocity from the tibial nerve to the somatosensory cortex (PubMed:8855236). Mutant mice display impaired motor coordination and balance (PubMed:15953602). Sciatic nerves from over three month old mutant mice show signs of Wallerian degeneration, with redundant myelin, degeneration of myelinated fibers, axon dysmyelination, and an apparent decrease in the diameter of myelinated axons (PubMed:15953602). The distances between neurofilaments in myelinated axons from over 3 month old mice are shorter than normal (PubMed:15953602).2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000591011 – 533Beta-1,4 N-acetylgalactosaminyltransferase 1Add BLAST533

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi79N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi80Interchain (with C-412)By similarity
Disulfide bondi82Interchain (with C-529)By similarity
Glycosylationi179N-linked (GlcNAc...)Sequence analysis1
Glycosylationi274N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi412Interchain (with C-80)By similarity
Disulfide bondi429 ↔ 476By similarity
Disulfide bondi529Interchain (with C-82)By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ09200.
PaxDbiQ09200.
PeptideAtlasiQ09200.
PRIDEiQ09200.

PTM databases

PhosphoSitePlusiQ09200.

Expressioni

Tissue specificityi

Most abundant in brain, liver, lung, spleen and testis.1 Publication

Developmental stagei

Highest at day 7 of embryonic development after which it declines to its lowest levels at day 11 before increasing again.1 Publication

Gene expression databases

BgeeiENSMUSG00000006731.
CleanExiMM_B4GALNT1.
ExpressionAtlasiQ09200. baseline and differential.
GenevisibleiQ09200. MM.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.By similarity

Protein-protein interaction databases

BioGridi199818. 1 interactor.
STRINGi10090.ENSMUSP00000006914.

Structurei

3D structure databases

ProteinModelPortaliQ09200.
SMRiQ09200.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF61. Eukaryota.
ENOG4111N56. LUCA.
GeneTreeiENSGT00390000006679.
HOGENOMiHOG000220853.
HOVERGENiHBG004812.
InParanoidiQ09200.
KOiK00725.
OMAiFLRYNRL.
OrthoDBiEOG091G04CW.
PhylomeDBiQ09200.
TreeFamiTF332297.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiView protein in InterPro
IPR001173. Glyco_trans_2-like.
IPR011143. GM2_synthase.
IPR029044. Nucleotide-diphossugar_trans.
PfamiView protein in Pfam
PF00535. Glycos_transf_2. 1 hit.
PIRSFiPIRSF000474. GM2_GD2_synthase. 1 hit.
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

Q09200-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRLDRRALYA LVLLLACASL GLLYSSTRNA PSLPNPLALW SPPQGPPRLD
60 70 80 90 100
LLDLAPEPRY AHIPVRIKEQ VVGLLAQNNC SCESKGGSLP LPFLRQVRAV
110 120 130 140 150
DLTKAFDAEE LRAVSVAREQ EYQAFLARSR SLADQLLIAP ANSPLQYPLQ
160 170 180 190 200
GVEVQPLRSI LVPGLSLQEA SVQEIYQVNL SASLGTWDVA GEVTGVTLTG
210 220 230 240 250
EGQPDLTLAS PVLDKLNRQL QLVTYSSRSY QANTADTVRF STKGHEVAFT
260 270 280 290 300
ILVRHPPNPR LYPPSSLPQG AEYNISALVT IATKTFLRYD RLRTLIASIR
310 320 330 340 350
RFYPTVTIVI ADDSDKPERI SDPHVEHYFM PFGKGWFAGR NLAVSQVTTK
360 370 380 390 400
YVLWVDDDFV FTARTRLEKL VDVLEKTPLD LVGGAVREIS GYATTYRQLL
410 420 430 440 450
SVEPGAPGLG NCFRQKQGFH HELVGFPSCV VTDGVVNFFL ARTDKVRQVG
460 470 480 490 500
FDPRLNRVAH LEFFLDGLGF LRVGSCSDVV VDHASKVKLP WTAKDPGAET
510 520 530
YARYRYPGSL DQSQVAKHRL LFFKHRLQCM TAE
Length:533
Mass (Da):59,212
Last modified:November 1, 1995 - v1
Checksum:i6A15D81D2A68A28F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73G → E in AAA85496 (PubMed:7558008).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L25885 mRNA. Translation: AAA65027.1.
U18975 mRNA. Translation: AAA85496.1.
BC036996 mRNA. Translation: AAH36996.1.
BC057199 mRNA. Translation: AAH57199.1.
CCDSiCCDS24230.1.
PIRiS78529.
RefSeqiNP_032106.1. NM_008080.5.
NP_082015.2. NM_027739.2.
XP_006513282.1. XM_006513219.3.
UniGeneiMm.386762.

Genome annotation databases

EnsembliENSMUST00000006914; ENSMUSP00000006914; ENSMUSG00000006731.
GeneIDi14421.
KEGGimmu:14421.
UCSCiuc007hic.2. mouse.

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

Beta-1,4 N-acetylgalactosaminyltransferase 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L25885 mRNA. Translation: AAA65027.1.
U18975 mRNA. Translation: AAA85496.1.
BC036996 mRNA. Translation: AAH36996.1.
BC057199 mRNA. Translation: AAH57199.1.
CCDSiCCDS24230.1.
PIRiS78529.
RefSeqiNP_032106.1. NM_008080.5.
NP_082015.2. NM_027739.2.
XP_006513282.1. XM_006513219.3.
UniGeneiMm.386762.

3D structure databases

ProteinModelPortaliQ09200.
SMRiQ09200.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi199818. 1 interactor.
STRINGi10090.ENSMUSP00000006914.

Protein family/group databases

CAZyiGT12. Glycosyltransferase Family 12.

PTM databases

PhosphoSitePlusiQ09200.

Proteomic databases

EPDiQ09200.
PaxDbiQ09200.
PeptideAtlasiQ09200.
PRIDEiQ09200.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000006914; ENSMUSP00000006914; ENSMUSG00000006731.
GeneIDi14421.
KEGGimmu:14421.
UCSCiuc007hic.2. mouse.

Organism-specific databases

CTDi2583.
MGIiMGI:1342057. B4galnt1.

Phylogenomic databases

eggNOGiENOG410IF61. Eukaryota.
ENOG4111N56. LUCA.
GeneTreeiENSGT00390000006679.
HOGENOMiHOG000220853.
HOVERGENiHBG004812.
InParanoidiQ09200.
KOiK00725.
OMAiFLRYNRL.
OrthoDBiEOG091G04CW.
PhylomeDBiQ09200.
TreeFamiTF332297.

Enzyme and pathway databases

BRENDAi2.4.1.92. 3474.
ReactomeiR-MMU-1660662. Glycosphingolipid metabolism.

Miscellaneous databases

PROiQ09200.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000006731.
CleanExiMM_B4GALNT1.
ExpressionAtlasiQ09200. baseline and differential.
GenevisibleiQ09200. MM.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiView protein in InterPro
IPR001173. Glyco_trans_2-like.
IPR011143. GM2_synthase.
IPR029044. Nucleotide-diphossugar_trans.
PfamiView protein in Pfam
PF00535. Glycos_transf_2. 1 hit.
PIRSFiPIRSF000474. GM2_GD2_synthase. 1 hit.
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiB4GN1_MOUSE
AccessioniPrimary (citable) accession number: Q09200
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: March 15, 2017
This is version 150 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.