Homo sapiens (human): 138050
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Entry
138050 CDS
T01001
Symbol
HGSNAT, HGNAT, MPS3C, RP73, TMEM76
Name
(RefSeq) heparan-alpha-glucosaminide N-acetyltransferase
KO
K10532
heparan-alpha-glucosaminide N-acetyltransferase [EC:
2.3.1.78
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00531
Glycosaminoglycan degradation
hsa01100
Metabolic pathways
hsa04142
Lysosome
Module
hsa_M00078
Heparan sulfate degradation
Network
nt06012
Glycosaminoglycan degradation
Element
N00615
Heparan sulfate degradation
Disease
H00130
Mucopolysaccharidosis type III
H00421
Mucopolysaccharidosis
H00527
Retinitis pigmentosa
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00531 Glycosaminoglycan degradation
138050 (HGSNAT)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
138050 (HGSNAT)
Enzymes [BR:
hsa01000
]
2. Transferases
2.3 Acyltransferases
2.3.1 Transferring groups other than aminoacyl groups
2.3.1.78 heparan-alpha-glucosaminide N-acetyltransferase
138050 (HGSNAT)
BRITE hierarchy
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
HGSNAT_cat
DUF5009
GWT1
Motif
Other DBs
NCBI-GeneID:
138050
NCBI-ProteinID:
NP_689632
OMIM:
610453
HGNC:
26527
Ensembl:
ENSG00000165102
UniProt:
Q68CP4
Q8IVU6
Structure
PDB
LinkDB
All DBs
Position
8:43140464..43202855
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AA seq
635 aa
AA seq
DB search
MSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHN
ELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEK
EVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVI
SFLRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRL
RSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSI
LQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVA
VLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYL
GPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSI
VMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSL
SYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLK
DNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI
NT seq
1908 nt
NT seq
+upstream
nt +downstream
nt
atgagcggggcgggcagggcgctggccgcgctgctgctggccgcgtccgtgctgagcgcc
gcgctgctggcccccggcggctcttcggggcgcgatgcccaggccgcgccgccacgagac
ttagacaaaaaaagacatgcagagctgaagatggatcaggctttgctactcatccataat
gaacttctctggaccaacttgaccgtctactggaaatctgaatgctgttatcactgcttg
tttcaggttctggtaaacgttcctcagagtccaaaagcagggaagcctagtgctgcagct
gcctctgtcagcacccagcacggatctatcctgcagctgaacgacaccttggaagagaaa
gaagtttgtaggttggaatacagatttggagaatttggaaactattctctcttggtaaag
aacatccataatggagttagtgaaattgcctgtgacctggctgtgaacgaggatccagtt
gatagtaaccttcctgtgagcattgcattccttattggtcttgctgtcatcattgtgata
tcctttctgaggctcttgttgagtttggatgactttaacaattggatttctaaagccata
agttctcgagaaactgatcgcctcatcaattctgagctgggatctcccagcaggacagac
cctctcgatggtgatgttcagccagcaacgtggcgtctatctgccctgccgccccgcctc
cgcagcgtggacaccttcagggggattgctcttatactcatggtctttgtcaattatgga
ggaggaaaatattggtacttcaaacatgcaagttggaatgggctgacagtggctgacctc
gtgttcccgtggtttgtatttattatgggatcttccatttttctatcgatgacttctata
ctgcaacgggggtgttcaaaattcagattgctggggaagattgcatggaggagtttcctg
ttaatctgcataggaattatcattgtgaatcccaattattgccttggtccattgtcttgg
gacaaggtgcgcattcctggtgtgctgcagcgattgggagtgacatactttgtggttgct
gtgttggagctcctctttgctaaacctgtgcctgaacattgtgcctcggagaggagctgc
ctttctcttcgagacatcacgtccagctggccccagtggctgctcatcctggtgctggaa
ggcctgtggctgggcttgacattcctcctgccagtccctgggtgccctactggttatctt
ggtcctgggggcattggagattttggcaagtatccaaattgcactggaggagctgcaggc
tacatcgaccgcctgctgctgggagacgatcacctttaccagcacccatcttctgctgta
ctttaccacaccgaggtggcctatgaccccgagggcatcctgggcaccatcaactccatc
gtgatggcctttttaggagttcaggcaggaaaaatactattgtattacaaggctcggacc
aaagacatcctgattcgattcactgcttggtgttgtattcttgggctcatttctgttgct
ctgacgaaggtttctgaaaatgaaggctttattccagtaaacaaaaatctctggtccctt
tcgtatgtcactacgctcagttcttttgccttcttcatcctgctggtcctgtacccagtt
gtggatgtgaaggggctgtggacaggaaccccattcttttatccaggaatgaattccatt
ctggtatatgtcggccacgaggtgtttgagaactacttcccctttcagtggaagctgaag
gacaaccagtcccacaaggagcacctgactcagaacatcgtcgccactgccctctgggtg
ctcattgcctacatcctctatagaaagaagattttttggaaaatctga
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