Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	138050
Gene name	Heparan-alpha-glucosaminide N-acetyltransferase
Gene symbol	HGSNAT
Synonyms (NCBI Gene)	HGNATMPS3CRP73TMEM76
Chromosome	8
Chromosome location	8p11.21-p11.1
Summary	This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopoly

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112029032	G>A	Likely-pathogenic, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121908282	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs121908283	T>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs121908284	T>A	Pathogenic	Missense variant, coding sequence variant
rs121908285	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121908286	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs193066451	G>A	Pathogenic	Splice donor variant
rs370717845	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs372933126	C>A,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs377050184	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398124544	G>A	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs398124545	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs483352894	->G	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, frameshift variant
rs483352895	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs483352896	A>G	Pathogenic	Splice acceptor variant
rs483352908	G>A	Pathogenic	Splice donor variant
rs727503962	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs747240928	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs748387885	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs749568919	A>T	Likely-pathogenic	Splice acceptor variant
rs752939204	C>T	Pathogenic	Coding sequence variant, stop gained
rs753355844	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs754875934	A>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs755710040	A>C	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs756310864	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs762402992	A>G	Likely-pathogenic	Splice acceptor variant
rs766835582	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs775078211	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs797045120	G>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs954238515	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518644	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1064795522	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1085307112	A>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1085307880	A>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1401818080	->A	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1447092074	G>A	Pathogenic	Intron variant, splice acceptor variant
rs1554526454	->CG	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554531744	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant, 5 prime UTR variant
rs1554532283	G>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs1554533211	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554537612	G>A,C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554537613	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554537807	A>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554537841	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1563366896	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1586698317	T>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT039742	hsa-miR-615-3p	CLASH	23622248
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT1044911	hsa-miR-122	CLIP-seq
MIRT1044912	hsa-miR-1226	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT1044914	hsa-miR-1252	CLIP-seq
MIRT1044915	hsa-miR-1276	CLIP-seq
MIRT1044916	hsa-miR-1324	CLIP-seq
MIRT1044917	hsa-miR-1912	CLIP-seq
MIRT1044918	hsa-miR-198	CLIP-seq
MIRT1044919	hsa-miR-214	CLIP-seq
MIRT1044920	hsa-miR-22	CLIP-seq
MIRT1044921	hsa-miR-24	CLIP-seq
MIRT1044922	hsa-miR-3125	CLIP-seq
MIRT1044923	hsa-miR-3134	CLIP-seq
MIRT1044924	hsa-miR-3144-3p	CLIP-seq
MIRT1044925	hsa-miR-3150a-3p	CLIP-seq
MIRT1044926	hsa-miR-3165	CLIP-seq
MIRT1044927	hsa-miR-3175	CLIP-seq
MIRT1044928	hsa-miR-3182	CLIP-seq
MIRT1044929	hsa-miR-3190	CLIP-seq
MIRT1044930	hsa-miR-3202	CLIP-seq
MIRT1044931	hsa-miR-3617	CLIP-seq
MIRT1044932	hsa-miR-3619-5p	CLIP-seq
MIRT1044933	hsa-miR-3647-3p	CLIP-seq
MIRT1044934	hsa-miR-3662	CLIP-seq
MIRT1044935	hsa-miR-3669	CLIP-seq
MIRT1044936	hsa-miR-3682-5p	CLIP-seq
MIRT1044937	hsa-miR-3689a-3p	CLIP-seq
MIRT1044938	hsa-miR-3689c	CLIP-seq
MIRT1044939	hsa-miR-3689d	CLIP-seq
MIRT1044940	hsa-miR-376c	CLIP-seq
MIRT1044941	hsa-miR-3916	CLIP-seq
MIRT1044942	hsa-miR-4270	CLIP-seq
MIRT1044943	hsa-miR-4276	CLIP-seq
MIRT1044944	hsa-miR-4284	CLIP-seq
MIRT1044945	hsa-miR-4299	CLIP-seq
MIRT1044946	hsa-miR-4311	CLIP-seq
MIRT1044947	hsa-miR-4441	CLIP-seq
MIRT1044948	hsa-miR-4456	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT1044950	hsa-miR-4481	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT1044952	hsa-miR-4520a-3p	CLIP-seq
MIRT1044953	hsa-miR-4530	CLIP-seq
MIRT1044954	hsa-miR-4533	CLIP-seq
MIRT1044955	hsa-miR-4534	CLIP-seq
MIRT1044956	hsa-miR-4640-5p	CLIP-seq
MIRT1044957	hsa-miR-4643	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044959	hsa-miR-4667-5p	CLIP-seq
MIRT1044960	hsa-miR-4670-3p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT1044963	hsa-miR-4679	CLIP-seq
MIRT1044964	hsa-miR-4683	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044966	hsa-miR-4693-3p	CLIP-seq
MIRT1044967	hsa-miR-4700-5p	CLIP-seq
MIRT1044968	hsa-miR-4719	CLIP-seq
MIRT1044969	hsa-miR-4722-5p	CLIP-seq
MIRT1044970	hsa-miR-4726-5p	CLIP-seq
MIRT1044971	hsa-miR-4728-5p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT1044973	hsa-miR-4744	CLIP-seq
MIRT1044974	hsa-miR-4745-5p	CLIP-seq
MIRT1044975	hsa-miR-513b	CLIP-seq
MIRT1044976	hsa-miR-548b-3p	CLIP-seq
MIRT1044977	hsa-miR-548q	CLIP-seq
MIRT1044978	hsa-miR-570	CLIP-seq
MIRT1044979	hsa-miR-583	CLIP-seq
MIRT1044980	hsa-miR-634	CLIP-seq
MIRT1044981	hsa-miR-640	CLIP-seq
MIRT1044982	hsa-miR-641	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT1044984	hsa-miR-646	CLIP-seq
MIRT1044985	hsa-miR-761	CLIP-seq
MIRT1044986	hsa-miR-875-5p	CLIP-seq
MIRT1044987	hsa-miR-939	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT1556508	hsa-miR-27a	CLIP-seq
MIRT1556509	hsa-miR-27b	CLIP-seq
MIRT2009824	hsa-miR-1205	CLIP-seq
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT2009825	hsa-miR-1287	CLIP-seq
MIRT2009826	hsa-miR-1587	CLIP-seq
MIRT2009827	hsa-miR-1910	CLIP-seq
MIRT2009828	hsa-miR-3121-3p	CLIP-seq
MIRT1044929	hsa-miR-3190	CLIP-seq
MIRT2009829	hsa-miR-3619-3p	CLIP-seq
MIRT2009830	hsa-miR-3649	CLIP-seq
MIRT2009831	hsa-miR-3652	CLIP-seq
MIRT1044939	hsa-miR-3689d	CLIP-seq
MIRT2009832	hsa-miR-378g	CLIP-seq
MIRT2009833	hsa-miR-4264	CLIP-seq
MIRT2009834	hsa-miR-4300	CLIP-seq
MIRT2009835	hsa-miR-4320	CLIP-seq
MIRT2009836	hsa-miR-4430	CLIP-seq
MIRT2009837	hsa-miR-4434	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2009838	hsa-miR-4492	CLIP-seq
MIRT2009839	hsa-miR-4498	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT2009840	hsa-miR-4516	CLIP-seq
MIRT1044955	hsa-miR-4534	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT2009841	hsa-miR-4650-5p	CLIP-seq
MIRT2009842	hsa-miR-4656	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT2009843	hsa-miR-4675	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044968	hsa-miR-4719	CLIP-seq
MIRT1044969	hsa-miR-4722-5p	CLIP-seq
MIRT2009844	hsa-miR-4741	CLIP-seq
MIRT2009845	hsa-miR-4797-3p	CLIP-seq
MIRT2009846	hsa-miR-4802-5p	CLIP-seq
MIRT2009847	hsa-miR-503	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2009848	hsa-miR-671-5p	CLIP-seq
MIRT2009849	hsa-miR-762	CLIP-seq
MIRT2009850	hsa-miR-920	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT2242176	hsa-miR-103b	CLIP-seq
MIRT1044911	hsa-miR-122	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT2242177	hsa-miR-124	CLIP-seq
MIRT2242178	hsa-miR-1255a	CLIP-seq
MIRT2242179	hsa-miR-1255b	CLIP-seq
MIRT2242180	hsa-miR-1256	CLIP-seq
MIRT2242181	hsa-miR-1271	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT2242182	hsa-miR-149	CLIP-seq
MIRT2242183	hsa-miR-182	CLIP-seq
MIRT2242184	hsa-miR-185	CLIP-seq
MIRT1044917	hsa-miR-1912	CLIP-seq
MIRT1044919	hsa-miR-214	CLIP-seq
MIRT1044920	hsa-miR-22	CLIP-seq
MIRT2242185	hsa-miR-25	CLIP-seq
MIRT1556508	hsa-miR-27a	CLIP-seq
MIRT1556509	hsa-miR-27b	CLIP-seq
MIRT2242186	hsa-miR-3064-5p	CLIP-seq
MIRT1044922	hsa-miR-3125	CLIP-seq
MIRT2242187	hsa-miR-3126-3p	CLIP-seq
MIRT1044924	hsa-miR-3144-3p	CLIP-seq
MIRT2242188	hsa-miR-3153	CLIP-seq
MIRT2242189	hsa-miR-3154	CLIP-seq
MIRT1044929	hsa-miR-3190	CLIP-seq
MIRT2242190	hsa-miR-32	CLIP-seq
MIRT2242191	hsa-miR-320a	CLIP-seq
MIRT2242192	hsa-miR-320b	CLIP-seq
MIRT2242193	hsa-miR-320c	CLIP-seq
MIRT2242194	hsa-miR-320d	CLIP-seq
MIRT2242195	hsa-miR-338-3p	CLIP-seq
MIRT2242196	hsa-miR-361-3p	CLIP-seq
MIRT1044932	hsa-miR-3619-5p	CLIP-seq
MIRT2242197	hsa-miR-3622a-3p	CLIP-seq
MIRT2242198	hsa-miR-3622b-3p	CLIP-seq
MIRT2242199	hsa-miR-363	CLIP-seq
MIRT2242200	hsa-miR-3650	CLIP-seq
MIRT2242201	hsa-miR-3668	CLIP-seq
MIRT2242202	hsa-miR-367	CLIP-seq
MIRT2242203	hsa-miR-3676	CLIP-seq
MIRT2242204	hsa-miR-3686	CLIP-seq
MIRT1044939	hsa-miR-3689d	CLIP-seq
MIRT2242205	hsa-miR-376a	CLIP-seq
MIRT2242206	hsa-miR-376b	CLIP-seq
MIRT2242207	hsa-miR-3910	CLIP-seq
MIRT2242208	hsa-miR-3915	CLIP-seq
MIRT1044941	hsa-miR-3916	CLIP-seq
MIRT2242209	hsa-miR-3919	CLIP-seq
MIRT2242210	hsa-miR-3928	CLIP-seq
MIRT2242211	hsa-miR-3978	CLIP-seq
MIRT2242212	hsa-miR-4254	CLIP-seq
MIRT2242213	hsa-miR-4261	CLIP-seq
MIRT2009833	hsa-miR-4264	CLIP-seq
MIRT2242214	hsa-miR-4267	CLIP-seq
MIRT2009834	hsa-miR-4300	CLIP-seq
MIRT2242215	hsa-miR-4306	CLIP-seq
MIRT2242216	hsa-miR-4330	CLIP-seq
MIRT2242217	hsa-miR-4429	CLIP-seq
MIRT1044948	hsa-miR-4456	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2242218	hsa-miR-4476	CLIP-seq
MIRT2242219	hsa-miR-4511	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT1044952	hsa-miR-4520a-3p	CLIP-seq
MIRT2242220	hsa-miR-4528	CLIP-seq
MIRT2242221	hsa-miR-4529-5p	CLIP-seq
MIRT1044953	hsa-miR-4530	CLIP-seq
MIRT1044957	hsa-miR-4643	CLIP-seq
MIRT2242222	hsa-miR-4644	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT2242223	hsa-miR-4659a-5p	CLIP-seq
MIRT2242224	hsa-miR-4659b-5p	CLIP-seq
MIRT2242225	hsa-miR-4663	CLIP-seq
MIRT2242226	hsa-miR-4668-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT2242227	hsa-miR-4690-5p	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044966	hsa-miR-4693-3p	CLIP-seq
MIRT2242228	hsa-miR-4712-3p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT2242229	hsa-miR-4736	CLIP-seq
MIRT2242230	hsa-miR-4747-5p	CLIP-seq
MIRT2242231	hsa-miR-4756-3p	CLIP-seq
MIRT2242232	hsa-miR-4765	CLIP-seq
MIRT2242233	hsa-miR-4769-3p	CLIP-seq
MIRT2242234	hsa-miR-4779	CLIP-seq
MIRT2242235	hsa-miR-4794	CLIP-seq
MIRT2009845	hsa-miR-4797-3p	CLIP-seq
MIRT2009846	hsa-miR-4802-5p	CLIP-seq
MIRT2242236	hsa-miR-485-5p	CLIP-seq
MIRT2009847	hsa-miR-503	CLIP-seq
MIRT2242237	hsa-miR-506	CLIP-seq
MIRT1044976	hsa-miR-548b-3p	CLIP-seq
MIRT2242238	hsa-miR-619	CLIP-seq
MIRT1044981	hsa-miR-640	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2009848	hsa-miR-671-5p	CLIP-seq
MIRT1044985	hsa-miR-761	CLIP-seq
MIRT2242239	hsa-miR-767-5p	CLIP-seq
MIRT1044986	hsa-miR-875-5p	CLIP-seq
MIRT2242240	hsa-miR-892a	CLIP-seq
MIRT2009850	hsa-miR-920	CLIP-seq
MIRT2242241	hsa-miR-92a	CLIP-seq
MIRT2242242	hsa-miR-92b	CLIP-seq
MIRT2242243	hsa-miR-933	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT2242244	hsa-miR-96	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT1556507	hsa-miR-128	CLIP-seq
MIRT1556508	hsa-miR-27a	CLIP-seq
MIRT1556509	hsa-miR-27b	CLIP-seq
MIRT2009831	hsa-miR-3652	CLIP-seq
MIRT1044937	hsa-miR-3689a-3p	CLIP-seq
MIRT1044938	hsa-miR-3689c	CLIP-seq
MIRT2388945	hsa-miR-4271	CLIP-seq
MIRT2009836	hsa-miR-4430	CLIP-seq
MIRT2242218	hsa-miR-4476	CLIP-seq
MIRT1044950	hsa-miR-4481	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT1044954	hsa-miR-4533	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT2388946	hsa-miR-4725-3p	CLIP-seq
MIRT1044971	hsa-miR-4728-5p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT1044974	hsa-miR-4745-5p	CLIP-seq
MIRT2242230	hsa-miR-4747-5p	CLIP-seq
MIRT2242236	hsa-miR-485-5p	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT2242177	hsa-miR-124	CLIP-seq
MIRT2242181	hsa-miR-1271	CLIP-seq
MIRT2242183	hsa-miR-182	CLIP-seq
MIRT2242189	hsa-miR-3154	CLIP-seq
MIRT2242201	hsa-miR-3668	CLIP-seq
MIRT2242207	hsa-miR-3910	CLIP-seq
MIRT2242208	hsa-miR-3915	CLIP-seq
MIRT2242210	hsa-miR-3928	CLIP-seq
MIRT2242237	hsa-miR-506	CLIP-seq
MIRT2242239	hsa-miR-767-5p	CLIP-seq
MIRT2242240	hsa-miR-892a	CLIP-seq
MIRT2242244	hsa-miR-96	CLIP-seq
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT2451172	hsa-miR-3122	CLIP-seq
MIRT2451173	hsa-miR-3913-5p	CLIP-seq
MIRT2451174	hsa-miR-425	CLIP-seq
MIRT2451175	hsa-miR-450b-3p	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2451176	hsa-miR-769-3p	CLIP-seq
MIRT2545825	hsa-miR-1185	CLIP-seq
MIRT1044910	hsa-miR-1207-3p	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT2242178	hsa-miR-1255a	CLIP-seq
MIRT2242179	hsa-miR-1255b	CLIP-seq
MIRT2545826	hsa-miR-1260	CLIP-seq
MIRT2545827	hsa-miR-1260b	CLIP-seq
MIRT2545828	hsa-miR-188-3p	CLIP-seq
MIRT1044917	hsa-miR-1912	CLIP-seq
MIRT2545829	hsa-miR-2110	CLIP-seq
MIRT1044919	hsa-miR-214	CLIP-seq
MIRT2451172	hsa-miR-3122	CLIP-seq
MIRT1044922	hsa-miR-3125	CLIP-seq
MIRT1044925	hsa-miR-3150a-3p	CLIP-seq
MIRT2545830	hsa-miR-3156-3p	CLIP-seq
MIRT2545831	hsa-miR-3605-5p	CLIP-seq
MIRT1044932	hsa-miR-3619-5p	CLIP-seq
MIRT2545832	hsa-miR-3679-5p	CLIP-seq
MIRT2545833	hsa-miR-377	CLIP-seq
MIRT2451173	hsa-miR-3913-5p	CLIP-seq
MIRT1044941	hsa-miR-3916	CLIP-seq
MIRT2451174	hsa-miR-425	CLIP-seq
MIRT2545834	hsa-miR-4260	CLIP-seq
MIRT2545835	hsa-miR-4450	CLIP-seq
MIRT2545836	hsa-miR-4457	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2451175	hsa-miR-450b-3p	CLIP-seq
MIRT2242219	hsa-miR-4511	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT2242220	hsa-miR-4528	CLIP-seq
MIRT1044953	hsa-miR-4530	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044966	hsa-miR-4693-3p	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT2242234	hsa-miR-4779	CLIP-seq
MIRT1044975	hsa-miR-513b	CLIP-seq
MIRT1044976	hsa-miR-548b-3p	CLIP-seq
MIRT1044978	hsa-miR-570	CLIP-seq
MIRT1044983	hsa-miR-642b	CLIP-seq
MIRT2545837	hsa-miR-665	CLIP-seq
MIRT1044985	hsa-miR-761	CLIP-seq
MIRT2451176	hsa-miR-769-3p	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq
MIRT1044913	hsa-miR-1228	CLIP-seq
MIRT1044914	hsa-miR-1252	CLIP-seq
MIRT2545826	hsa-miR-1260	CLIP-seq
MIRT2545827	hsa-miR-1260b	CLIP-seq
MIRT2682289	hsa-miR-1321	CLIP-seq
MIRT2545828	hsa-miR-188-3p	CLIP-seq
MIRT1044923	hsa-miR-3134	CLIP-seq
MIRT2545830	hsa-miR-3156-3p	CLIP-seq
MIRT2682290	hsa-miR-3162-5p	CLIP-seq
MIRT2545833	hsa-miR-377	CLIP-seq
MIRT1044949	hsa-miR-4459	CLIP-seq
MIRT2242218	hsa-miR-4476	CLIP-seq
MIRT1044951	hsa-miR-4514	CLIP-seq
MIRT2242220	hsa-miR-4528	CLIP-seq
MIRT1044954	hsa-miR-4533	CLIP-seq
MIRT1044955	hsa-miR-4534	CLIP-seq
MIRT1044958	hsa-miR-4645-5p	CLIP-seq
MIRT1044961	hsa-miR-4673	CLIP-seq
MIRT1044962	hsa-miR-4677-3p	CLIP-seq
MIRT1044965	hsa-miR-4692	CLIP-seq
MIRT1044972	hsa-miR-4733-3p	CLIP-seq
MIRT2682291	hsa-miR-4739	CLIP-seq
MIRT2682292	hsa-miR-4756-5p	CLIP-seq
MIRT2242234	hsa-miR-4779	CLIP-seq
MIRT2545837	hsa-miR-665	CLIP-seq
MIRT1044988	hsa-miR-940	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	19823584, 20650889
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007041	Process	Lysosomal transport	IBA
GO:0007041	Process	Lysosomal transport	IDA	20650889
GO:0015019	Function	Heparan-alpha-glucosaminide N-acetyltransferase activity	IEA
GO:0015019	Function	Heparan-alpha-glucosaminide N-acetyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IDA	19823584, 20650889
GO:0016746	Function	Acyltransferase activity	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	20650889
GO:0070821	Component	Tertiary granule membrane	TAS

MIM	HGNC	e!Ensembl
610453	26527	ENSG00000165102

Q68CP4

Protein name

Heparan-alpha-glucosaminide N-acetyltransferase (EC 2.3.1.78) (Transmembrane protein 76)

Protein function

Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. {ECO:0000269|PubMed:16960811

PDB

8JKV , 8JL1 , 8JL3 , 8JL4 , 8TU9 , 8VKJ , 8VLG , 8VLI , 8VLU , 8VLV , 8VLY , 8W4A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07786	DUF1624	267 → 428	Protein of unknown function (DUF1624)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver. {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958}.

Sequence

MTGARASAAEQRRAGRSGQARAAERAAGMSGAGRALAALLLAASVLSAALLAPGGSSGRD
AQAAPPRDLDKKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYHCLFQVLVNVPQSPK
AGKPSAAAASVSTQHGSILQLNDTLEEKEVCRLEYRFGEFGNYSLLVKNIHNGVSEIACD
LAVNEDPVDSNLPVSIAFLIGLAVIIVISFLRLLLSLDDFNNWISKAISSRETDRLINSE
LGSPSRTDPLDGDVQPATWRLSALPPRLRSVDTFRGIALILMVFVNYGGGKYWYFKHASW
NGLTVADLVFPWFVFIMGSSIFLSMTSILQRGCSKFRLLGKIAWRSFLLICIGIIIVNPN
YCLGPLSWDKVRIPGVLQRLGVTYFVVAVLELLFAKPVPEHCASERSCLSLRDITSSWPQ
WLLILVLEGLWLGLTFLLPVPGCPTGYLGPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHL
YQHPSSAVLYHTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYKARTKDILIRFTAWCC
ILGLISVALTKVSENEGFIPVNKNLWSLSYVTTLSSFAFFILLVLYPVVDVKGLWTGTPF
FYPGMNSILVYVGHEVFENYFPFQWKLKDNQSHKEHLTQNIVATALWVLIAYILYRKKIF
WKI

Sequence length

663

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan degradation Metabolic pathways Lysosome		HS-GAG degradation MPS IIIC - Sanfilippo syndrome C Neutrophil degranulation

2247

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs398124544	RCV005887677
HGSNAT-related disorder	Likely pathogenic	rs2486908416	RCV003412142
Mucopolysaccharidosis	Pathogenic	rs370717845	RCV001030804
Mucopolysaccharidosis, MPS-III-C	Likely pathogenic; Pathogenic	rs398124544, rs398124545, rs2130722124, rs1220771600, rs1803180587, rs2130745878, rs2130766198, rs2130783742, rs771455190, rs2130819661, rs2130648385, rs2130648345, rs767574122, rs2130746148, rs375616017 View all (108 more)	RCV000668206 RCV000671662 RCV001379518 RCV001390498 RCV001386044 RCV001389504 RCV001390155 RCV001390992 RCV001387361 RCV001380828 RCV003772151 RCV001923286 RCV002015556 RCV002040075 RCV002037909 RCV001994815 RCV001939693 RCV001960510 RCV001877710 RCV002000919 RCV001975063 RCV001973705 RCV002045234 RCV002027204 RCV001983953 RCV000001289 RCV000001290 RCV000001291 RCV000001292 RCV000001294 RCV000001295 RCV000001297 RCV002309707 RCV002309991 RCV002308263 RCV002309054 RCV002307088 RCV002307135 RCV002310563 RCV002465058 RCV003112196 RCV002685668 RCV002750803 RCV002796306 RCV002815418 RCV002832951 RCV002838585 RCV002870776 RCV002842403 RCV002857521 RCV002848255 RCV002909353 RCV002999357 RCV003029396 RCV003044731 RCV005060993 RCV000239404 RCV000763185 RCV003782791 RCV003781090 RCV003789752 RCV003787813 RCV003807897 RCV003808423 RCV003806411 RCV003791631 RCV003790679 RCV003807203 RCV003804690 RCV003802078 RCV003809654 RCV003815255 RCV003815528 RCV003813212 RCV003812352 RCV003810372 RCV001389727 RCV000415469 RCV000023817 RCV000488421 RCV000691847 RCV000669939 RCV000652844 RCV000674597 RCV000664501 RCV000674699 RCV000667942 RCV000672832 RCV000667514 RCV000670844 RCV000672518 RCV000668961 RCV001383040 RCV000674664 RCV000672073 RCV000669029 RCV000674983 RCV000673270 RCV000670012 RCV000669280 RCV000667348 RCV001385500 RCV000689696 RCV000689608 RCV003768479 RCV000807281 RCV001038813 RCV001041925 RCV001047096 RCV001383041 RCV005049784 RCV001210786 RCV001204409 RCV001201450 RCV001232001 RCV001231322 RCV001251050 RCV001264381 RCV001263599 RCV001263600 RCV001263601 RCV001263602 RCV001263603 RCV001263604 RCV001263605 RCV001263606 RCV001263890 RCV001263891 RCV001263892
Retinal dystrophy	Likely pathogenic; Pathogenic	rs398124544, rs121908282, rs2487003212, rs483352908, rs1554537807, rs747240928, rs1563366896, rs756310864, rs752939204, rs1804147747	RCV001074721 RCV000504894 RCV004817128 RCV001074236 RCV004817902 RCV004817877 RCV004817927 RCV001074231 RCV003889987 RCV003890342
Retinitis pigmentosa 73	Likely pathogenic; Pathogenic	rs398124544, rs398124545, rs2130722124, rs1220771600, rs1803180587, rs2130745878, rs2130766198, rs2130783742, rs771455190, rs2130819661, rs2130648385, rs2130648345, rs767574122, rs2130746148, rs375616017 View all (86 more)	RCV001065437 RCV001221115 RCV001379518 RCV001390498 RCV001386044 RCV001389504 RCV001390155 RCV001390992 RCV001387361 RCV001380828 RCV003772151 RCV001923286 RCV002015556 RCV002040075 RCV002037909 RCV001994815 RCV001939693 RCV001960510 RCV001877710 RCV002000919 RCV001975063 RCV001973705 RCV002045234 RCV002027204 RCV001983953 RCV000763183 RCV000662072 RCV000763184 RCV002476908 RCV001067306 RCV001851534 RCV003112196 RCV002685668 RCV002750803 RCV002796306 RCV000190842 RCV002815418 RCV002832951 RCV002838585 RCV002870776 RCV002842403 RCV002857521 RCV002848255 RCV002909353 RCV002999357 RCV003029396 RCV003044731 RCV003765485 RCV000763185 RCV003782791 RCV003781090 RCV003789752 RCV003787813 RCV003807897 RCV003808423 RCV003806411 RCV003791631 RCV003790679 RCV003807203 RCV003804690 RCV003802078 RCV003809654 RCV003815255 RCV003815528 RCV003813212 RCV003812352 RCV003810372 RCV001389727 RCV002521465 RCV000652843 RCV000691847 RCV001041537 RCV000652844 RCV000793723 RCV001855586 RCV001383039 RCV001855511 RCV001383040 RCV001868282 RCV003767971 RCV001069675 RCV001390807 RCV001040598 RCV001385500 RCV000689696 RCV000689608 RCV003768479 RCV000807281 RCV001038813 RCV001041925 RCV001047096 RCV001250773 RCV001196380 RCV001210786 RCV001204409 RCV001201450 RCV001232001 RCV001231322 RCV001250772 RCV001250776 RCV001250775 RCV003770370 RCV003770371 RCV001880063
Sanfilippo syndrome	Likely pathogenic; Pathogenic	rs398124544, rs193066451, rs121908282, rs483352896, rs370717845, rs753355844, rs483352908, rs1085307880, rs775078211, rs1554533211, rs747616932, rs747240928, rs1563366896, rs756310864, rs1804565177, rs1804617510 View all (1 more)	RCV001192639 RCV000780343 RCV003330379 RCV000586364 RCV004701344 RCV000587936 RCV001192638 RCV003155215 RCV000780339 RCV001264578 RCV002282322 RCV002222590 RCV000780340 RCV003323688 RCV001175525 RCV001293488
Synovial plica syndrome	Likely pathogenic; Pathogenic	rs1803878901	RCV002267635
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs73569592	RCV005909293

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs73569592	RCV005899395
Clear cell carcinoma of kidney	Benign; Likely benign	rs73569592	RCV005899396
Familial cancer of breast	Benign; Likely benign	rs182393180	RCV005902497
Gastric cancer	Benign; Likely benign	rs73569592	RCV005899398
Hepatocellular carcinoma	Benign; Uncertain significance; Likely benign	rs10958738, rs368646796, rs182393180	RCV005911436 RCV005926528 RCV005902498
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs192857413, rs138736400, rs755565282	RCV001252520 RCV001252518 RCV001252519
Lung cancer	Benign; Likely benign	rs73569592, rs76750342	RCV005899402 RCV005898638
Malignant tumor of esophagus	Benign; Likely benign	rs73569592, rs76750342	RCV005899394 RCV005898636
Malignant tumor of urinary bladder	Uncertain significance	rs770462636	RCV005911147
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs73569597, rs73569592	RCV005899405 RCV005899399
Papillary renal cell carcinoma type 1	Uncertain significance	rs770462636	RCV005911146
Retinitis pigmentosa	Uncertain significance; Conflicting classifications of pathogenicity	rs754143732, rs754875934, rs112029032, rs561701894	RCV005419554 RCV001003048 RCV001003049 RCV001724274
Sarcoma	Benign; Likely benign	rs73569592, rs76750342	RCV005899397 RCV005898637
Uterine carcinosarcoma	Benign; Likely benign	rs73569592	RCV005899400
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs73569592	RCV005899403

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Disease	Associate	32770643
Drug Hypersensitivity	Associate	25633562
Hypertensive Retinopathy	Associate	32770643
Mucopolysaccharidosis III	Associate	32770643, 39196614
Retinal Diseases	Associate	32770643
Retinal Dystrophies	Associate	27608171
Retinitis Pigmentosa	Associate	27608171, 32770643

HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)