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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
Brenda:2.3.1.78
CTD Gene:138050
EC:2.3.1.78
ENSEMBL:ENSG00000165102
GeneCards:Q68CP4
HapMap:NM_152419
IntEnz:2.3.1.78
KEGG Gene:138050
NCBI Gene:138050
OMIM:252930
OMIM:610453
RefSeq:NM_152419
RefSeq:NP_689632
UCSC human:Q68CP4
UniProt:Q68CP4
dbSNP Gene:138050
Other identifiers related to this sequenceHGNAT_HUMAN, B4E2V0, ENSG00000165102, ENST00000379644, ENSP00000368965, 218017_s_at, 222491_at, 238090_at, 227564_at, 1557064_s_at, 57503_at, 63343_at, 70015_at, g13376612_3p_a_at, Hs.288057.0.S1_3p_at, Hs.288057.1.A1_3p_at, Hs.202527.0.A1_3p_at, 1557064_3p_s_at, A_14_P200672, A_14_P110068, A_23_P147950, A_24_P16378, A_23_P112061, A_24_P120827, GE87314, AC113191, CR749838, BC042037, AK057293, EntrezGene:138050, GI_42658991-S, ILMN_38393, ILMN_33722, IPI00739149, IPI00217139, IPI00402501, MIM:610453, MIM:252930, CAH18694, AAH42037, BAB71412, NM_152419, NP_689632, Hs.600384, Q68CP4, Q8IVU6, Q96M97, HGNAT_HUMAN, Q8IVU6_HUMAN, Q96M97_HUMAN
Molecules with this sequenceHGSNAT [lysosomal membrane] UKENBCdOORHGUR
S518F-HGSNAT [lysosomal membrane] UKENBCdOORHGUR
R344C-HGSNAT [lysosomal membrane] UKENBCdOORHGUR
W403C/A615T-HGSNAT [lysosomal membrane] UKENBCdOORHGUR
R384*-HGSNAT [lysosomal membrane] UKENBCdOORHGUR
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
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