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Protein

Beta-1,4 N-acetylgalactosaminyltransferase 1

Gene

B4GALNT1

Organism
Homo sapiens (Human)
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.

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.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • ganglioside biosynthetic process Source: Ensembl
  • glycosphingolipid metabolic process Source: ProtInc
  • lipid glycosylation Source: InterPro
  • lipid storage Source: Ensembl
  • protein glycosylation Source: UniProtKB-UniPathway
  • spermatogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciZFISH:HS06011-MONOMER.
BRENDAi2.4.1.92. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT12. Glycosyltransferase Family 12.

Chemistry databases

SwissLipidsiSLP:000000771.
SLP:000001406.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC:2.4.1.92)
Alternative name(s):
(N-acetylneuraminyl)-galactosylglucosylceramide
GM2/GD2 synthase
GalNAc-T
Gene namesi
Name:B4GALNT1
Synonyms:GALGT, SIAT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:4117. 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

  • integral component of Golgi membrane Source: InterPro
  • membrane Source: ProtInc
  • plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 26, autosomal recessive (SPG26)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive.
See also OMIM:609195
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070235300R → C in SPG26. 1 PublicationCorresponds to variant rs756710480dbSNPEnsembl.1
Natural variantiVAR_070236433D → A in SPG26. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi2583.
MalaCardsiB4GALNT1.
MIMi609195. phenotype.
OpenTargetsiENSG00000135454.
Orphaneti101006. Autosomal recessive spastic paraplegia type 26.
PharmGKBiPA28532.

Polymorphism and mutation databases

DMDMi1168736.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000591001 – 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)1 Publication
Disulfide bondi82Interchain (with C-529)1 Publication
Glycosylationi179N-linked (GlcNAc...)Sequence analysis1
Glycosylationi274N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi412Interchain (with C-80)1 Publication
Disulfide bondi429 ↔ 4761 Publication
Disulfide bondi529Interchain (with C-82)1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ00973.
PaxDbiQ00973.
PeptideAtlasiQ00973.
PRIDEiQ00973.

PTM databases

iPTMnetiQ00973.
PhosphoSitePlusiQ00973.

Expressioni

Gene expression databases

BgeeiENSG00000135454.
CleanExiHS_B4GALNT1.
ExpressionAtlasiQ00973. baseline and differential.
GenevisibleiQ00973. HS.

Organism-specific databases

HPAiHPA008968.
HPA015128.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.1 Publication

Protein-protein interaction databases

BioGridi108856. 6 interactors.
STRINGi9606.ENSP00000341562.

Structurei

3D structure databases

ProteinModelPortaliQ00973.
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.
InParanoidiQ00973.
KOiK00725.
OMAiFLRYNRL.
OrthoDBiEOG091G04CW.
PhylomeDBiQ00973.
TreeFamiTF332297.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR011143. GM2_synthase.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
[Graphical view]
PIRSFiPIRSF000474. GM2_GD2_synthase. 1 hit.
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q00973-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE
60 70 80 90 100
LPDLAPEPRY AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI
110 120 130 140 150
DLTKAFDPAE LRAASATREQ EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ
160 170 180 190 200
GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL TASLGTWDVA GEVTGVTLTG
210 220 230 240 250
EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF STEGHEAAFT
260 270 280 290 300
IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR
310 320 330 340 350
RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK
360 370 380 390 400
YVLWVDDDFV FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL
410 420 430 440 450
SVEPGAPGLG NCLRQRRGFH HELVGFPGCV VTDGVVNFFL ARTDKVREVG
460 470 480 490 500
FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV VDHASKLKLP WTSRDAGAET
510 520 530
YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ
Length:533
Mass (Da):58,882
Last modified:November 1, 1995 - v2
Checksum:i533946E05E2A102B
GO
Isoform 2 (identifier: Q00973-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-128: Missing.

Show »
Length:478
Mass (Da):52,860
Checksum:i6C41F497A0E2E255
GO
Isoform 3 (identifier: Q00973-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     238-328: VRFSTEGHEA...RVSGPYVEHY → GARPGWRDGQ...TVGGPRKRLV
     329-533: Missing.

Show »
Length:328
Mass (Da):35,471
Checksum:i451A27EC0E75259C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01205235L → V.Corresponds to variant rs774896dbSNPEnsembl.1
Natural variantiVAR_012053172G → R.Corresponds to variant rs810205dbSNPEnsembl.1
Natural variantiVAR_070235300R → C in SPG26. 1 PublicationCorresponds to variant rs756710480dbSNPEnsembl.1
Natural variantiVAR_070236433D → A in SPG26. 1 Publication1
Natural variantiVAR_049237516A → V.Corresponds to variant rs17454674dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05503974 – 128Missing in isoform 2. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_055040238 – 328VRFST…YVEHY → GARPGWRDGQAGQTEKNQKG WSGQMAEGMGGIWAMARAVQ PHNGCFNWTSRARGRKGAFV HLGLEQARGKPEPWVCLPFR PTVGGPRKRLV in isoform 3. 1 PublicationAdd BLAST91
Alternative sequenceiVSP_055041329 – 533Missing in isoform 3. 1 PublicationAdd BLAST205

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M83651 mRNA. Translation: AAA35516.1.
AK293432 mRNA. Translation: BAG56937.1.
AC025165 Genomic DNA. No translation available.
BC029828 mRNA. Translation: AAH29828.1.
CCDSiCCDS61170.1. [Q00973-2]
CCDS61171.1. [Q00973-3]
CCDS8950.1. [Q00973-1]
PIRiA44128.
A54379.
RefSeqiNP_001263397.1. NM_001276468.1. [Q00973-2]
NP_001263398.1. NM_001276469.1. [Q00973-3]
NP_001469.1. NM_001478.4. [Q00973-1]
XP_016874631.1. XM_017019142.1. [Q00973-1]
UniGeneiHs.159481.

Genome annotation databases

EnsembliENST00000341156; ENSP00000341562; ENSG00000135454. [Q00973-1]
ENST00000418555; ENSP00000401601; ENSG00000135454. [Q00973-2]
ENST00000550764; ENSP00000450303; ENSG00000135454. [Q00973-3]
ENST00000552350; ENSP00000448500; ENSG00000135454. [Q00973-3]
GeneIDi2583.
KEGGihsa:2583.
UCSCiuc001spg.3. human. [Q00973-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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
M83651 mRNA. Translation: AAA35516.1.
AK293432 mRNA. Translation: BAG56937.1.
AC025165 Genomic DNA. No translation available.
BC029828 mRNA. Translation: AAH29828.1.
CCDSiCCDS61170.1. [Q00973-2]
CCDS61171.1. [Q00973-3]
CCDS8950.1. [Q00973-1]
PIRiA44128.
A54379.
RefSeqiNP_001263397.1. NM_001276468.1. [Q00973-2]
NP_001263398.1. NM_001276469.1. [Q00973-3]
NP_001469.1. NM_001478.4. [Q00973-1]
XP_016874631.1. XM_017019142.1. [Q00973-1]
UniGeneiHs.159481.

3D structure databases

ProteinModelPortaliQ00973.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108856. 6 interactors.
STRINGi9606.ENSP00000341562.

Chemistry databases

SwissLipidsiSLP:000000771.
SLP:000001406.

Protein family/group databases

CAZyiGT12. Glycosyltransferase Family 12.

PTM databases

iPTMnetiQ00973.
PhosphoSitePlusiQ00973.

Polymorphism and mutation databases

DMDMi1168736.

Proteomic databases

MaxQBiQ00973.
PaxDbiQ00973.
PeptideAtlasiQ00973.
PRIDEiQ00973.

Protocols and materials databases

DNASUi2583.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341156; ENSP00000341562; ENSG00000135454. [Q00973-1]
ENST00000418555; ENSP00000401601; ENSG00000135454. [Q00973-2]
ENST00000550764; ENSP00000450303; ENSG00000135454. [Q00973-3]
ENST00000552350; ENSP00000448500; ENSG00000135454. [Q00973-3]
GeneIDi2583.
KEGGihsa:2583.
UCSCiuc001spg.3. human. [Q00973-1]

Organism-specific databases

CTDi2583.
DisGeNETi2583.
GeneCardsiB4GALNT1.
HGNCiHGNC:4117. B4GALNT1.
HPAiHPA008968.
HPA015128.
MalaCardsiB4GALNT1.
MIMi601873. gene.
609195. phenotype.
neXtProtiNX_Q00973.
OpenTargetsiENSG00000135454.
Orphaneti101006. Autosomal recessive spastic paraplegia type 26.
PharmGKBiPA28532.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF61. Eukaryota.
ENOG4111N56. LUCA.
GeneTreeiENSGT00390000006679.
HOGENOMiHOG000220853.
HOVERGENiHBG004812.
InParanoidiQ00973.
KOiK00725.
OMAiFLRYNRL.
OrthoDBiEOG091G04CW.
PhylomeDBiQ00973.
TreeFamiTF332297.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciZFISH:HS06011-MONOMER.
BRENDAi2.4.1.92. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.

Miscellaneous databases

GeneWikiiB4GALNT1.
GenomeRNAii2583.
PROiQ00973.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135454.
CleanExiHS_B4GALNT1.
ExpressionAtlasiQ00973. baseline and differential.
GenevisibleiQ00973. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR011143. GM2_synthase.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
[Graphical view]
PIRSFiPIRSF000474. GM2_GD2_synthase. 1 hit.
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiB4GN1_HUMAN
AccessioniPrimary (citable) accession number: Q00973
Secondary accession number(s): B4DE26, Q8N636
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 1, 1995
Last modified: November 2, 2016
This is version 158 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.