Gene/Proteome Database (LMPD)

LMPD ID
LMP002758
Gene ID
2583
Species
Homo sapiens (Human)
Gene Name
beta-1,4-N-acetyl-galactosaminyl transferase 1
Gene Symbol
B4GALNT1
Synonyms
GALGT; GALNACT; GalNAc-T; SPG26
Chromosome
12
Map Location
12q13.3
EC Number
2.4.1.92
Summary
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Orthologs
View orthologs and multiple alignments for B4GALNT1

Proteins

beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor
Refseq ID NP_001469
Protein GI 4503893
UniProt ID Q00973
mRNA ID NM_001478
Length 533
RefSeq Status REVIEWED
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ
sig_peptide: 1..25 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2691 peptide sequence: MWLGRRALCALVLLLACASLGLLYA sig_peptide: 1..25 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2691 peptide sequence: MWLGRRALCALVLLLACASLGLLYA sig_peptide: 1..25 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2691 peptide sequence: MWLGRRALCALVLLLACASLGLLYA
beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2 precursor
Refseq ID NP_001263397
Protein GI 451172101
UniProt ID Q00973
mRNA ID NM_001276468
Length 478
RefSeq Status REVIEWED
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ
beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 3 precursor
Refseq ID NP_001263398
Protein GI 451172103
UniProt ID Q00973
mRNA ID NM_001276469
Length 328
RefSeq Status REVIEWED
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTGARPGWRDGQAGQTEKNQKGWSGQMAEGMGGIWAMARAVQPHNGCFNWTSRARGRKGAFVHLGLEQARGKPEPWVCLPFRPTVGGPRKRLV

Gene Information

Entrez Gene ID
2583
Gene Name
beta-1,4-N-acetyl-galactosaminyl transferase 1
Gene Symbol
B4GALNT1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0030173 IEA:InterPro C integral component of Golgi membrane
GO:0016020 TAS:ProtInc C membrane
GO:0005886 IEA:Ensembl C plasma membrane
GO:0003947 TAS:ProtInc F (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity
GO:0005975 TAS:ProtInc P carbohydrate metabolic process
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0001574 IEA:Ensembl P ganglioside biosynthetic process
GO:0006687 TAS:ProtInc P glycosphingolipid metabolic process
GO:0030259 IEA:InterPro P lipid glycosylation
GO:0019915 IEA:Ensembl P lipid storage
GO:0006486 IEA:UniProtKB-UniPathway P protein glycosylation
GO:0007283 IEA:Ensembl P spermatogenesis

KEGG Pathway Links

KEGG Pathway ID Description
hsa00604 Glycosphingolipid biosynthesis - ganglio series
ko00604 Glycosphingolipid biosynthesis - ganglio series
hsa01100 Metabolic pathways

Domain Information

InterPro Annotations

Accession Description
IPR011143 Ganglioside GM2 synthase
IPR001173 Glycosyltransferase 2-like
IPR029044 Nucleotide-diphospho-sugar transferases

UniProt Annotations

Entry Information

Gene Name
beta-1,4-N-acetyl-galactosaminyl transferase 1
Protein Entry
B4DSP5_HUMAN
UniProt ID
Q00973
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q00973-1; Sequence=Displayed; Name=2; IsoId=Q00973-2; Sequence=VSP_055039; Name=3; IsoId=Q00973-3; Sequence=VSP_055040, VSP_055041;
Catalytic Activity 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.
Disease Spastic paraplegia 26, autosomal recessive (SPG26) [MIM
Function Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.
Pathway Protein modification; protein glycosylation.
Similarity Belongs to the glycosyltransferase 2 family.
Subcellular Location Golgi apparatus membrane; Single-pass type II membrane protein.
Subunit Homodimer; disulfide-linked.
Web Resource Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4 N-acetylgalactosaminyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_480";
Web Resource Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALNT1";

Identical and Related Proteins

Unique RefSeq proteins for LMP002758 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4503893 RefSeq NP_001469 533 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor
451172101 RefSeq NP_001263397 478 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2 precursor
451172103 RefSeq NP_001263398 328 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 3 precursor

Identical Sequences to LMP002758 proteins

Reference Database Accession Length Protein Name
GI:451172101 DBBJ BAG56937.1 478 unnamed protein product [Homo sapiens]
GI:4503893 GenBank AAA35516.1 533 beta-1,4 N-acetylgalactosaminyltransferase [Homo sapiens]
GI:451172103 GenBank AAH29828.1 328 B4GALNT1 protein [Homo sapiens]
GI:4503893 GenBank ADC20584.1 533 Sequence 1068 from patent US 7638288
GI:451172103 GenBank ADZ15711.1 328 beta-1,4-N-acetyl-galactosaminyl transferase 1, partial [synthetic construct]
GI:4503893 GenBank AGD01545.1 533 Sequence 1068 from patent US 8338124
GI:4503893 GenBank AHD71261.1 533 Sequence 5955 from patent US 8586006
GI:4503893 SwissProt Q00973.2 533 RecName: Full=Beta-1,4 N-acetylgalactosaminyltransferase 1; AltName: Full=(N-acetylneuraminyl)-galactosylglucosylceramide; AltName: Full=GM2/GD2 synthase; AltName: Full=GalNAc-T [Homo sapiens]

Related Sequences to LMP002758 proteins

Reference Database Accession Length Protein Name
GI:451172103 GenBank AAA35516.1 533 beta-1,4 N-acetylgalactosaminyltransferase [Homo sapiens]
GI:4503893 GenBank EAW97042.1 533 beta-1,4-N-acetyl-galactosaminyl transferase 1, isoform CRA_a [Homo sapiens]
GI:4503893 GenBank EAW97043.1 533 beta-1,4-N-acetyl-galactosaminyl transferase 1, isoform CRA_a [Homo sapiens]
GI:451172103 GenBank AGD01545.1 533 Sequence 1068 from patent US 8338124
GI:451172103 GenBank AHD71261.1 533 Sequence 5955 from patent US 8586006
GI:451172103 GenBank AIC61968.1 328 B4GALNT1, partial [synthetic construct]
GI:451172103 RefSeq NP_001469.1 533 beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 1 precursor [Homo sapiens]
GI:4503893 RefSeq XP_509169.2 533 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X4 [Pan troglodytes]
GI:451172101 RefSeq XP_001116263.2 610 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform 2 [Macaca mulatta]
GI:4503893 RefSeq XP_003824893.1 533 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X5 [Pan paniscus]
GI:451172101 RefSeq XP_005268830.1 544 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1 [Homo sapiens]
GI:4503893 RefSeq XP_005268830.1 544 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1 [Homo sapiens]
GI:451172101 RefSeq XP_006719394.1 544 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2 [Homo sapiens]
GI:4503893 RefSeq XP_006719394.1 544 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2 [Homo sapiens]
GI:451172101 RefSeq XP_006740111.1 478 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2 [Leptonychotes weddellii]
GI:451172101 RefSeq XP_010387244.1 533 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X1 [Rhinopithecus roxellana]
GI:451172101 RefSeq XP_010387245.1 478 PREDICTED: beta-1,4 N-acetylgalactosaminyltransferase 1 isoform X2 [Rhinopithecus roxellana]
GI:451172103 SwissProt Q00973.2 533 RecName: Full=Beta-1,4 N-acetylgalactosaminyltransferase 1; AltName: Full=(N-acetylneuraminyl)-galactosylglucosylceramide; AltName: Full=GM2/GD2 synthase; AltName: Full=GalNAc-T [Homo sapiens]