KEGG   Homo sapiens (human): 2583
Entry
2583              CDS       T01001                                 
Symbol
B4GALNT1, GALGT, GALNACT, GalNAc-T, SPG26
Name
(RefSeq) beta-1,4-N-acetyl-galactosaminyltransferase 1
  KO
K00725  (N-Acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase [EC:2.4.1.92]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa00604  Glycosphingolipid biosynthesis - ganglio series
hsa01100  Metabolic pathways
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    2583 (B4GALNT1)
  09107 Glycan biosynthesis and metabolism
   00604 Glycosphingolipid biosynthesis - ganglio series
    2583 (B4GALNT1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    2583 (B4GALNT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.92  (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase
     2583 (B4GALNT1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  Glycolipid
   2583 (B4GALNT1)
SSDB
Motif
Pfam: Glycos_transf_2
Other DBs
NCBI-GeneID: 2583
NCBI-ProteinID: NP_001469
OMIM: 601873
HGNC: 4117
Ensembl: ENSG00000135454
UniProt: Q00973 B4DSP5
Position
12:complement(57623409..57633201)
AA seq 533 aa
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRY
AHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQ
EFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNL
TASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF
STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIR
RFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFV
FTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFH
HELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVV
VDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ
NT seq 1602 nt   +upstreamnt  +downstreamnt
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

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (6)   
   KEGG ENZYME (1)   
   KEGG REACTION (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (34)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (31)   
DNA sequence (63)   
   RefSeq(nuc) (31)   
   GenBank (16)   
   EMBL (16)   
Protein domain (1)   
   Pfam (1)   
All databases (128)   

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