instancebrowser | sectioned | sidebarwithdynamichierarchy
Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
IdentifierUniProt:Q68CP4
DatabaseUniProt
SpeciesHomo sapiens
DescriptionrecommendedName: Heparan-alpha-glucosaminide N-acetyltransferase ecNumber2.3.1.78/ecNumber alternativeName: Transmembrane protein 76
Links to corresponding entries in other databasesBioGPS Gene:138050
CTD Gene:138050
ENSEMBL:ENSG00000165102
GeneCards:Q68CP4
HapMap:NM_152419
NCBI Gene:138050
OMIM:252930
OMIM:610453
PRO:Q68CP4
RefSeq:NM_152419
RefSeq:NP_689632
UCSC human:Q68CP4
UniProt:Q68CP4
dbSNP Gene:138050
Other identifiers related to this sequenceHGNAT_HUMAN, B4E2V0, Hs.288057.0.S1_3p_at, GE87314, 3096604, 218017_s_at, A_23_P112061, 3096610, 3096590, 3096583, 16960811, ENSP00000368965, 227564_at, 11724234_at, Hs.288057.1.A1_3p_at, 3096627, 17068642, CAH18694, AC113191, 3096630, 11724235_a_at, A_14_P200672, PH_hs_0022915, 3096632, 3096625, A_24_P120827, MIM:610453, BAG65262, 3096589, UPI000057A06E, CCDS47852, 3096577, 57503_at, PH_hs_0048554, 3096598, 3096631, g13376612_3p_a_at, IPR012429, 3096628, XP_005273469, AK304441, EntrezGene:138050, Hs.600384, HGNC:26527, A_14_P110068, MIM:252930, 3096629, 11724233_a_at, HGSNAT, CR749838, 3096613, ENSG00000165102, PF07786, 3096633, OTTHUMP00000225906, 222491_at, 3096608, 3096607, 3096603, 3096592, 3096588, ILMN_1662413, ILMN_1711465, XM_372038, HGSNAT-001, uc003xpx.4, A_24_P16378, 138050, NP_689632, 3096597, 3096626, 8146285, 17033958, A_23_P147950, 3096624, 3096618, 63343_at, Hs.708442, NM_152419, HPA029578, 3096622, 0001850156, 3096593
Molecules with this sequenceHGSNAT [lysosomal membrane] UENBCdOORHPGUR
S518F-HGSNAT [lysosomal membrane] UENBCdOORHPGUR
R344C-HGSNAT [lysosomal membrane] UENBCdOORHPGUR
W403C/A615T-HGSNAT [lysosomal membrane] UENBCdOORHPGUR
R384*-HGSNAT [lysosomal membrane] UENBCdOORHPGUR
Component ofHGSNAT oligomer [lysosomal membrane]
Represented by generalisation(s)HGSNAT mutants [lysosomal membrane]
Processes where molecules and complexes with this sequence are involved

Metabolism

Disease

Modifications in molecules with this sequenceL-alanine 615 replaced with L-threonine
L-arginine 384 replaced with unknown
L-serine 518 replaced with L-phenylalanine
L-arginine 344 replaced with L-cysteine
L-tryptophan 403 replaced with L-cysteine
[Change default viewing format]