| Identification |
|---|
| HMDB Protein ID
| HMDBP00873 |
| Secondary Accession Numbers
| |
| Name
| Beta-1,4 N-acetylgalactosaminyltransferase 1 |
| Synonyms
|
- (N-acetylneuraminyl)-galactosylglucosylceramide
- GM2/GD2 synthase
- GalNAc-T
|
| Gene Name
| B4GALNT1 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in transferase activity, transferring hexosyl groups |
| Specific Function
| Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.
|
| Pathways
|
- Glycosphingolipid biosynthesis - ganglio series
- protein glycosylation
|
| Reactions
|
| 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 → Uridine 5'-diphosphate + 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 |
details
|
| UDP-N-acetyl-D-galactosamine + Lactosylceramide → UDP + GA2 |
details
|
| UDP-N-acetyl-D-galactosamine + GM3 → UDP + GM2 |
details
|
| UDP-N-acetyl-D-galactosamine + GD3 → UDP + GD2 |
details
|
| UDP-N-acetyl-D-galactosamine + GT3 → UDP + GT2 |
details
|
|
| GO Classification
|
| Biological Process |
| spermatogenesis |
| ganglioside biosynthetic process |
| lipid storage |
| lipid glycosylation |
| protein glycosylation |
| carbohydrate metabolic process |
| glycosphingolipid metabolic process |
| Cellular Component |
| plasma membrane |
| integral to Golgi membrane |
| membrane |
| Component |
| cell part |
| membrane part |
| intrinsic to membrane |
| intrinsic to organelle membrane |
| intrinsic to golgi membrane |
| integral to golgi membrane |
| Function |
| catalytic activity |
| transferase activity |
| transferase activity, transferring hexosyl groups |
| transferase activity, transferring glycosyl groups |
| Molecular Function |
| (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity |
| Process |
| lipid modification |
| lipid glycosylation |
| metabolic process |
| primary metabolic process |
| lipid metabolic process |
| cellular lipid metabolic process |
|
| Cellular Location
|
- Golgi apparatus membrane
- Single-pass type II membrane protein
|
| Gene Properties |
|---|
| Chromosome Location
| 12 |
| Locus
| 12q13.3 |
| SNPs
| B4GALNT1 |
| Gene Sequence
|
>1602 bp
ATGTGGCTGGGCCGCCGGGCCCTGTGCGCTCTGGTCCTTCTGCTCGCCTGCGCCTCGCTG
GGGCTCCTGTACGCGAGCACCCGGGACGCGCCCGGCCTCCGGCTACCTCTTGCGCCGTGG
GCGCCCCCGCAAAGCCCCCGCAGGCCCGAGCTGCCAGATCTTGCTCCTGAGCCCCGCTAC
GCACACATCCCGGTCAGGATCAAGGAGCAAGTAGTGGGGCTGCTGGCTTGGAACAACTGC
AGTTGTGAGTCCAGTGGGGGGGGCCTCCCCCTCCCCTTCCAGAAACAAGTCCGAGCTATT
GACCTCACCAAGGCCTTTGACCCTGCAGAGCTGAGGGCTGCCTCTGCCACAAGAGAGCAG
GAGTTCCAGGCCTTTCTGTCGAGGAGCCAGTCCCCAGCTGACCAGCTGCTCATAGCCCCT
GCCAACTCCCCGCTCCAGTACCCCCTACAGGGTGTGGAAGTTCAGCCCCTCAGGAGCATC
TTGGTGCCAGGGCTGAGCCTTCAGGCAGCTTCTGGTCAGGAGGTATACCAGGTGAACCTG
ACTGCCTCCCTAGGCACCTGGGACGTGGCAGGGGAAGTGACTGGAGTTACTCTCACTGGA
GAGGGTCAGGCAGATCTCACCCTTGTCAGCCCAGGGCTGGACCAACTCAACAGGCAACTA
CAACTGGTCACTTACAGCAGCCGAAGCTACCAGACCAACACAGCAGACACAGTCCGGTTC
TCCACCGAGGGACATGAGGCTGCTTTCACTATCCGCATAAGACACCCGCCCAACCCTCGG
CTGTACCCACCTGGGTCTCTACCCCAGGGAGCCCAGTACAACATCAGCGCTCTAGTCACG
ATTGCCACCAAGACCTTCCTCCGTTATGATCGGCTACGGGCTCTCATCACCAGTATCCGC
CGCTTCTACCCAACGGTTACCGTGGTCATCGCTGACGACAGCGACAAGCCAGAGCGCGTT
AGTGGCCCCTACGTGGAACACTATCTCATGCCCTTCGGCAAGGGCTGGTTCGCAGGCCGG
AACCTGGCCGTGTCTCAAGTAACCACCAAGTACGTGCTGTGGGTGGACGACGACTTCGTC
TTCACGGCGCGGACGCGGCTGGAGAGGCTTGTGGACGTGCTGGAGCGGACGCCGCTGGAC
CTGGTGGGGGGCGCGGTGCGCGAGATCTCCGGCTTTGCCACCACTTATCGGCAGCTGCTG
AGCGTGGAGCCCGGCGCCCCAGGCCTCGGGAACTGCCTCCGGCAAAGGCGCGGCTTCCAC
CACGAGCTCGTCGGCTTCCCAGGCTGCGTGGTCACCGACGGCGTGGTTAACTTCTTCCTG
GCGCGGACTGACAAGGTGCGCGAGGTCGGTTTCGACCCCCGCCTCAGCCGCGTGGCTCAT
CTGGAATTCTTCTTGGATGGGCTTGGTTCCCTTCGGGTTGGCTCCTGCTCCGACGTCGTG
GTGGATCATGCATCCAAACTGAAGCTGCCTTGGACATCAAGGGATGCCGGAGCAGAGACT
TACGCCCGGTACCGTTACCCAGGATCACTGGACGAGAGCCAGATGGCCAAACACCGGCTG
CTCTTCTTCAAACACCGGCTGCAGTGCATGACCTCCCAGTGA
|
| Protein Properties |
|---|
| Number of Residues
| 533 |
| Molecular Weight
| 58881.78 |
| Theoretical pI
| 8.69 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Beta-1,4 N-acetylgalactosaminyltransferase 1
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRY
AHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQ
EFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNL
TASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF
STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIR
RFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFV
FTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFH
HELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVV
VDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ
|
| External Links |
|---|
| GenBank ID Protein
| 431033 |
| UniProtKB/Swiss-Prot ID
| Q00973 |
| UniProtKB/Swiss-Prot Entry Name
| B4GN1_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| M83651 |
| GeneCard ID
| B4GALNT1 |
| GenAtlas ID
| B4GALNT1 |
| HGNC ID
| HGNC:4117 |
| References |
|---|
| General References
| - Nagata Y, Yamashiro S, Yodoi J, Lloyd KO, Shiku H, Furukawa K: Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. J Biol Chem. 1992 Jun 15;267(17):12082-9. [PubMed:1601877 ]
- Nagata Y, Yamashiro S, Yodoi J, Lloyd KO, Shiku H, Furukawa K: Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. J Biol Chem. 1994 Mar 4;269(9):7045. [PubMed:8120069 ]
- Li J, Yen TY, Allende ML, Joshi RK, Cai J, Pierce WM, Jaskiewicz E, Darling DS, Macher BA, Young WW Jr: Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains. J Biol Chem. 2000 Dec 29;275(52):41476-86. [PubMed:11018043 ]
|
