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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25831
Gene name	HECT domain E3 ubiquitin protein ligase 1
Gene symbol	HECTD1
Synonyms (NCBI Gene)	EULIR
Chromosome	14
Chromosome location	14q12

332

Show/Hide all (332)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003177	hsa-miR-210-3p	immunoprecipitaionMicroarrayqRT-PCR	19826008
MIRT003177	hsa-miR-210-3p	immunoprecipitaionMicroarrayqRT-PCR	19826008
MIRT018159	hsa-miR-335-5p	Microarray	18185580
MIRT028576	hsa-miR-30a-5p	Proteomics	18668040
MIRT030921	hsa-miR-21-5p	Microarray	18591254
MIRT046899	hsa-miR-221-3p	CLASH	23622248
MIRT437603	hsa-miR-142-3p	MicroarrayqRT-PCR	22815788
MIRT617234	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT617233	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617232	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617234	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT617233	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617232	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT493641	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT437603	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT493640	hsa-miR-1183	PAR-CLIP	23592263
MIRT493639	hsa-miR-4280	PAR-CLIP	23592263
MIRT493638	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT493637	hsa-miR-6514-5p	PAR-CLIP	23592263
MIRT493636	hsa-miR-20b-3p	PAR-CLIP	23592263
MIRT493635	hsa-miR-6073	PAR-CLIP	23592263
MIRT437603	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440517	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT437603	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440517	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT727510	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT727511	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT727509	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT737257	hsa-miR-485-5p	Luciferase reporter assayWestern blottingMicroarrayImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCR	32675746
MIRT617234	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT617233	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617232	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617234	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT617233	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617232	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT493641	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT437603	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT493640	hsa-miR-1183	PAR-CLIP	23592263
MIRT493639	hsa-miR-4280	PAR-CLIP	23592263
MIRT493638	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT493637	hsa-miR-6514-5p	PAR-CLIP	23592263
MIRT493636	hsa-miR-20b-3p	PAR-CLIP	23592263
MIRT493635	hsa-miR-6073	PAR-CLIP	23592263
MIRT1043409	hsa-miR-1253	CLIP-seq
MIRT1043410	hsa-miR-132	CLIP-seq
MIRT1043411	hsa-miR-15a	CLIP-seq
MIRT1043412	hsa-miR-15b	CLIP-seq
MIRT1043413	hsa-miR-16	CLIP-seq
MIRT1043414	hsa-miR-195	CLIP-seq
MIRT1043415	hsa-miR-2052	CLIP-seq
MIRT1043416	hsa-miR-21	CLIP-seq
MIRT1043417	hsa-miR-212	CLIP-seq
MIRT1043418	hsa-miR-300	CLIP-seq
MIRT1043419	hsa-miR-3064-5p	CLIP-seq
MIRT1043420	hsa-miR-3132	CLIP-seq
MIRT1043421	hsa-miR-3652	CLIP-seq
MIRT1043422	hsa-miR-3682-5p	CLIP-seq
MIRT1043423	hsa-miR-3692	CLIP-seq
MIRT1043424	hsa-miR-369-3p	CLIP-seq
MIRT1043425	hsa-miR-374a	CLIP-seq
MIRT1043426	hsa-miR-374b	CLIP-seq
MIRT1043427	hsa-miR-381	CLIP-seq
MIRT1043428	hsa-miR-424	CLIP-seq
MIRT1043429	hsa-miR-4251	CLIP-seq
MIRT1043430	hsa-miR-4430	CLIP-seq
MIRT1043431	hsa-miR-4505	CLIP-seq
MIRT1043432	hsa-miR-4524	CLIP-seq
MIRT1043433	hsa-miR-4666-3p	CLIP-seq
MIRT1043434	hsa-miR-4700-3p	CLIP-seq
MIRT1043435	hsa-miR-497	CLIP-seq
MIRT1043436	hsa-miR-503	CLIP-seq
MIRT1043437	hsa-miR-5095	CLIP-seq
MIRT1043438	hsa-miR-520d-5p	CLIP-seq
MIRT1043439	hsa-miR-524-5p	CLIP-seq
MIRT1043440	hsa-miR-545	CLIP-seq
MIRT1043441	hsa-miR-548a-3p	CLIP-seq
MIRT1043442	hsa-miR-548a-5p	CLIP-seq
MIRT1043443	hsa-miR-548ab	CLIP-seq
MIRT1043444	hsa-miR-548ae	CLIP-seq
MIRT1043445	hsa-miR-548aj	CLIP-seq
MIRT1043446	hsa-miR-548ak	CLIP-seq
MIRT1043447	hsa-miR-548al	CLIP-seq
MIRT1043448	hsa-miR-548am	CLIP-seq
MIRT1043449	hsa-miR-548b-5p	CLIP-seq
MIRT1043450	hsa-miR-548c-5p	CLIP-seq
MIRT1043451	hsa-miR-548d-5p	CLIP-seq
MIRT1043452	hsa-miR-548e	CLIP-seq
MIRT1043453	hsa-miR-548f	CLIP-seq
MIRT1043454	hsa-miR-548h	CLIP-seq
MIRT1043455	hsa-miR-548i	CLIP-seq
MIRT1043456	hsa-miR-548j	CLIP-seq
MIRT1043457	hsa-miR-548p	CLIP-seq
MIRT1043458	hsa-miR-548w	CLIP-seq
MIRT1043459	hsa-miR-548x	CLIP-seq
MIRT1043460	hsa-miR-548y	CLIP-seq
MIRT1043461	hsa-miR-559	CLIP-seq
MIRT1043462	hsa-miR-562	CLIP-seq
MIRT1043463	hsa-miR-590-5p	CLIP-seq
MIRT1043464	hsa-miR-616	CLIP-seq
MIRT1043465	hsa-miR-646	CLIP-seq
MIRT1043466	hsa-miR-9	CLIP-seq
MIRT1043409	hsa-miR-1253	CLIP-seq
MIRT2009347	hsa-miR-130a	CLIP-seq
MIRT2009348	hsa-miR-130b	CLIP-seq
MIRT1043410	hsa-miR-132	CLIP-seq
MIRT2009349	hsa-miR-141	CLIP-seq
MIRT1043411	hsa-miR-15a	CLIP-seq
MIRT1043412	hsa-miR-15b	CLIP-seq
MIRT1043413	hsa-miR-16	CLIP-seq
MIRT1043414	hsa-miR-195	CLIP-seq
MIRT2009350	hsa-miR-200a	CLIP-seq
MIRT1043415	hsa-miR-2052	CLIP-seq
MIRT2009351	hsa-miR-208a	CLIP-seq
MIRT2009352	hsa-miR-208b	CLIP-seq
MIRT2009353	hsa-miR-2116	CLIP-seq
MIRT1043417	hsa-miR-212	CLIP-seq
MIRT2009354	hsa-miR-301a	CLIP-seq
MIRT2009355	hsa-miR-301b	CLIP-seq
MIRT1043419	hsa-miR-3064-5p	CLIP-seq
MIRT2009356	hsa-miR-3130-3p	CLIP-seq
MIRT1043420	hsa-miR-3132	CLIP-seq
MIRT2009357	hsa-miR-3156-5p	CLIP-seq
MIRT2009358	hsa-miR-3160-3p	CLIP-seq
MIRT2009359	hsa-miR-3165	CLIP-seq
MIRT2009360	hsa-miR-3188	CLIP-seq
MIRT2009361	hsa-miR-3200-5p	CLIP-seq
MIRT2009362	hsa-miR-3649	CLIP-seq
MIRT1043421	hsa-miR-3652	CLIP-seq
MIRT2009363	hsa-miR-3666	CLIP-seq
MIRT2009364	hsa-miR-3679-3p	CLIP-seq
MIRT1043422	hsa-miR-3682-5p	CLIP-seq
MIRT2009365	hsa-miR-3684	CLIP-seq
MIRT1043423	hsa-miR-3692	CLIP-seq
MIRT2009366	hsa-miR-374c	CLIP-seq
MIRT2009367	hsa-miR-376a	CLIP-seq
MIRT2009368	hsa-miR-376b	CLIP-seq
MIRT2009369	hsa-miR-3925-5p	CLIP-seq
MIRT1043428	hsa-miR-424	CLIP-seq
MIRT1043429	hsa-miR-4251	CLIP-seq
MIRT2009370	hsa-miR-4295	CLIP-seq
MIRT2009371	hsa-miR-4307	CLIP-seq
MIRT2009372	hsa-miR-4311	CLIP-seq
MIRT2009373	hsa-miR-4325	CLIP-seq
MIRT2009374	hsa-miR-4329	CLIP-seq
MIRT1043430	hsa-miR-4430	CLIP-seq
MIRT2009375	hsa-miR-4432	CLIP-seq
MIRT2009376	hsa-miR-4446-5p	CLIP-seq
MIRT2009377	hsa-miR-4477b	CLIP-seq
MIRT2009378	hsa-miR-4487	CLIP-seq
MIRT1043431	hsa-miR-4505	CLIP-seq
MIRT1043432	hsa-miR-4524	CLIP-seq
MIRT2009379	hsa-miR-454	CLIP-seq
MIRT2009380	hsa-miR-4648	CLIP-seq
MIRT2009381	hsa-miR-4671-3p	CLIP-seq
MIRT2009382	hsa-miR-4677-5p	CLIP-seq
MIRT2009383	hsa-miR-4684-5p	CLIP-seq
MIRT2009384	hsa-miR-4699-5p	CLIP-seq
MIRT1043434	hsa-miR-4700-3p	CLIP-seq
MIRT2009385	hsa-miR-4704-5p	CLIP-seq
MIRT2009386	hsa-miR-4731-3p	CLIP-seq
MIRT2009387	hsa-miR-4793-3p	CLIP-seq
MIRT2009388	hsa-miR-4801	CLIP-seq
MIRT1043435	hsa-miR-497	CLIP-seq
MIRT2009389	hsa-miR-499-5p	CLIP-seq
MIRT1043436	hsa-miR-503	CLIP-seq
MIRT1043437	hsa-miR-5095	CLIP-seq
MIRT2009390	hsa-miR-532-3p	CLIP-seq
MIRT1043444	hsa-miR-548ae	CLIP-seq
MIRT1043445	hsa-miR-548aj	CLIP-seq
MIRT1043448	hsa-miR-548am	CLIP-seq
MIRT1043459	hsa-miR-548x	CLIP-seq
MIRT2009391	hsa-miR-558	CLIP-seq
MIRT2009392	hsa-miR-603	CLIP-seq
MIRT1043464	hsa-miR-616	CLIP-seq
MIRT1043465	hsa-miR-646	CLIP-seq
MIRT2009393	hsa-miR-655	CLIP-seq
MIRT1043466	hsa-miR-9	CLIP-seq
MIRT2009394	hsa-miR-942	CLIP-seq
MIRT2241757	hsa-miR-1224-3p	CLIP-seq
MIRT1043409	hsa-miR-1253	CLIP-seq
MIRT2241758	hsa-miR-1260	CLIP-seq
MIRT2241759	hsa-miR-1260b	CLIP-seq
MIRT2241760	hsa-miR-128	CLIP-seq
MIRT2241761	hsa-miR-1280	CLIP-seq
MIRT2241762	hsa-miR-1290	CLIP-seq
MIRT1043410	hsa-miR-132	CLIP-seq
MIRT2241763	hsa-miR-145	CLIP-seq
MIRT1043411	hsa-miR-15a	CLIP-seq
MIRT1043412	hsa-miR-15b	CLIP-seq
MIRT1043413	hsa-miR-16	CLIP-seq
MIRT2241764	hsa-miR-186	CLIP-seq
MIRT1043414	hsa-miR-195	CLIP-seq
MIRT2241765	hsa-miR-203	CLIP-seq
MIRT1043415	hsa-miR-2052	CLIP-seq
MIRT2009351	hsa-miR-208a	CLIP-seq
MIRT2009352	hsa-miR-208b	CLIP-seq
MIRT1043417	hsa-miR-212	CLIP-seq
MIRT2241766	hsa-miR-2277-3p	CLIP-seq
MIRT1043418	hsa-miR-300	CLIP-seq
MIRT2241767	hsa-miR-3120-3p	CLIP-seq
MIRT2009356	hsa-miR-3130-3p	CLIP-seq
MIRT2241768	hsa-miR-3133	CLIP-seq
MIRT2009357	hsa-miR-3156-5p	CLIP-seq
MIRT2009359	hsa-miR-3165	CLIP-seq
MIRT2009360	hsa-miR-3188	CLIP-seq
MIRT2009361	hsa-miR-3200-5p	CLIP-seq
MIRT2009362	hsa-miR-3649	CLIP-seq
MIRT2009364	hsa-miR-3679-3p	CLIP-seq
MIRT1043422	hsa-miR-3682-5p	CLIP-seq
MIRT2009365	hsa-miR-3684	CLIP-seq
MIRT1043423	hsa-miR-3692	CLIP-seq
MIRT1043424	hsa-miR-369-3p	CLIP-seq
MIRT1043425	hsa-miR-374a	CLIP-seq
MIRT1043426	hsa-miR-374b	CLIP-seq
MIRT2009366	hsa-miR-374c	CLIP-seq
MIRT1043427	hsa-miR-381	CLIP-seq
MIRT2241769	hsa-miR-3923	CLIP-seq
MIRT2009369	hsa-miR-3925-5p	CLIP-seq
MIRT1043428	hsa-miR-424	CLIP-seq
MIRT1043429	hsa-miR-4251	CLIP-seq
MIRT2241770	hsa-miR-4276	CLIP-seq
MIRT2009372	hsa-miR-4311	CLIP-seq
MIRT2241771	hsa-miR-4312	CLIP-seq
MIRT2009373	hsa-miR-4325	CLIP-seq
MIRT2009374	hsa-miR-4329	CLIP-seq
MIRT2009375	hsa-miR-4432	CLIP-seq
MIRT2009376	hsa-miR-4446-5p	CLIP-seq
MIRT1043432	hsa-miR-4524	CLIP-seq
MIRT2009380	hsa-miR-4648	CLIP-seq
MIRT1043433	hsa-miR-4666-3p	CLIP-seq
MIRT1043434	hsa-miR-4700-3p	CLIP-seq
MIRT2241772	hsa-miR-4704-3p	CLIP-seq
MIRT2009385	hsa-miR-4704-5p	CLIP-seq
MIRT2009386	hsa-miR-4731-3p	CLIP-seq
MIRT2009387	hsa-miR-4793-3p	CLIP-seq
MIRT2009388	hsa-miR-4801	CLIP-seq
MIRT1043435	hsa-miR-497	CLIP-seq
MIRT2009389	hsa-miR-499-5p	CLIP-seq
MIRT1043436	hsa-miR-503	CLIP-seq
MIRT1043437	hsa-miR-5095	CLIP-seq
MIRT2009390	hsa-miR-532-3p	CLIP-seq
MIRT2241773	hsa-miR-542-3p	CLIP-seq
MIRT1043441	hsa-miR-548a-3p	CLIP-seq
MIRT1043442	hsa-miR-548a-5p	CLIP-seq
MIRT1043443	hsa-miR-548ab	CLIP-seq
MIRT1043444	hsa-miR-548ae	CLIP-seq
MIRT1043445	hsa-miR-548aj	CLIP-seq
MIRT1043446	hsa-miR-548ak	CLIP-seq
MIRT1043447	hsa-miR-548al	CLIP-seq
MIRT1043448	hsa-miR-548am	CLIP-seq
MIRT2241774	hsa-miR-548an	CLIP-seq
MIRT1043449	hsa-miR-548b-5p	CLIP-seq
MIRT1043450	hsa-miR-548c-5p	CLIP-seq
MIRT1043451	hsa-miR-548d-5p	CLIP-seq
MIRT1043452	hsa-miR-548e	CLIP-seq
MIRT1043453	hsa-miR-548f	CLIP-seq
MIRT1043454	hsa-miR-548h	CLIP-seq
MIRT1043455	hsa-miR-548i	CLIP-seq
MIRT1043456	hsa-miR-548j	CLIP-seq
MIRT1043458	hsa-miR-548w	CLIP-seq
MIRT1043459	hsa-miR-548x	CLIP-seq
MIRT1043460	hsa-miR-548y	CLIP-seq
MIRT2241775	hsa-miR-550a	CLIP-seq
MIRT1043461	hsa-miR-559	CLIP-seq
MIRT2241776	hsa-miR-561	CLIP-seq
MIRT1043462	hsa-miR-562	CLIP-seq
MIRT2241777	hsa-miR-595	CLIP-seq
MIRT2009392	hsa-miR-603	CLIP-seq
MIRT1043464	hsa-miR-616	CLIP-seq
MIRT1043465	hsa-miR-646	CLIP-seq
MIRT2241778	hsa-miR-648	CLIP-seq
MIRT2009393	hsa-miR-655	CLIP-seq
MIRT2241779	hsa-miR-720	CLIP-seq
MIRT1043466	hsa-miR-9	CLIP-seq
MIRT2009394	hsa-miR-942	CLIP-seq
MIRT2241760	hsa-miR-128	CLIP-seq
MIRT1043419	hsa-miR-3064-5p	CLIP-seq
MIRT1043420	hsa-miR-3132	CLIP-seq
MIRT1043421	hsa-miR-3652	CLIP-seq
MIRT2009364	hsa-miR-3679-3p	CLIP-seq
MIRT2009365	hsa-miR-3684	CLIP-seq
MIRT2009366	hsa-miR-374c	CLIP-seq
MIRT2388927	hsa-miR-4255	CLIP-seq
MIRT2009373	hsa-miR-4325	CLIP-seq
MIRT1043430	hsa-miR-4430	CLIP-seq
MIRT2009376	hsa-miR-4446-5p	CLIP-seq
MIRT1043431	hsa-miR-4505	CLIP-seq
MIRT2009393	hsa-miR-655	CLIP-seq
MIRT2545321	hsa-miR-1208	CLIP-seq
MIRT1043409	hsa-miR-1253	CLIP-seq
MIRT1043410	hsa-miR-132	CLIP-seq
MIRT2009349	hsa-miR-141	CLIP-seq
MIRT2241763	hsa-miR-145	CLIP-seq
MIRT2009350	hsa-miR-200a	CLIP-seq
MIRT2241765	hsa-miR-203	CLIP-seq
MIRT1043417	hsa-miR-212	CLIP-seq
MIRT2009357	hsa-miR-3156-5p	CLIP-seq
MIRT2009361	hsa-miR-3200-5p	CLIP-seq
MIRT2009362	hsa-miR-3649	CLIP-seq
MIRT2545322	hsa-miR-3941	CLIP-seq
MIRT1043429	hsa-miR-4251	CLIP-seq
MIRT2009374	hsa-miR-4329	CLIP-seq
MIRT2009380	hsa-miR-4648	CLIP-seq
MIRT2545323	hsa-miR-466	CLIP-seq
MIRT2545324	hsa-miR-4672	CLIP-seq
MIRT2009384	hsa-miR-4699-5p	CLIP-seq
MIRT2241772	hsa-miR-4704-3p	CLIP-seq
MIRT2545325	hsa-miR-4719	CLIP-seq
MIRT2009386	hsa-miR-4731-3p	CLIP-seq
MIRT2009388	hsa-miR-4801	CLIP-seq
MIRT1043466	hsa-miR-9	CLIP-seq
MIRT2545321	hsa-miR-1208	CLIP-seq
MIRT1043409	hsa-miR-1253	CLIP-seq
MIRT1043410	hsa-miR-132	CLIP-seq
MIRT2009349	hsa-miR-141	CLIP-seq
MIRT2009350	hsa-miR-200a	CLIP-seq
MIRT2241765	hsa-miR-203	CLIP-seq
MIRT1043417	hsa-miR-212	CLIP-seq
MIRT2009357	hsa-miR-3156-5p	CLIP-seq
MIRT2009361	hsa-miR-3200-5p	CLIP-seq
MIRT2009362	hsa-miR-3649	CLIP-seq
MIRT2545322	hsa-miR-3941	CLIP-seq
MIRT1043429	hsa-miR-4251	CLIP-seq
MIRT2009374	hsa-miR-4329	CLIP-seq
MIRT2009380	hsa-miR-4648	CLIP-seq
MIRT2545323	hsa-miR-466	CLIP-seq
MIRT2545324	hsa-miR-4672	CLIP-seq
MIRT2009384	hsa-miR-4699-5p	CLIP-seq
MIRT2545325	hsa-miR-4719	CLIP-seq
MIRT2009386	hsa-miR-4731-3p	CLIP-seq
MIRT2009388	hsa-miR-4801	CLIP-seq
MIRT1043466	hsa-miR-9	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003170	Process	Heart valve development	ISS
GO:0003281	Process	Ventricular septum development	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	12421765, 33961781
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0035904	Process	Aorta development	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	33711283
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	ISS

MIM	HGNC	e!Ensembl
618649	20157	ENSG00000092148

Q9ULT8

Protein name

E3 ubiquitin-protein ligase HECTD1 (EC 2.3.2.26) (E3 ligase for inhibin receptor) (EULIR) (HECT domain-containing protein 1)

Protein function

E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:33711283). Mediates 'Lys-63'-linked polyubiquitinatio

PDB

2DK3 , 2LC3 , 3DKM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	400 → 487	Ankyrin repeats (3 copies)	Repeat
PF07738	Sad1_UNC	1107 → 1240	Sad1 / UNC-like C-terminal	Family
PF06701	MIB_HERC2	1277 → 1336	Mib_herc2	Domain
PF18410	BTHB	1890 → 1965	Basic tilted helix bundle domain	Domain
PF00632	HECT	2180 → 2610	HECT-domain (ubiquitin-transferase)	Domain

Sequence

MADVDPDTLLEWLQMGQGDERDMQLIALEQLCMLLLMSDNVDRCFETCPPRTFLPALCKI
FLDESAPDNVLEVTARAITYYLDVSAECTRRIVGVDGAIKALCNRLVVVELNNRTSRDLA
EQCVKVLELICTRESGAVFEAGGLNCVLTFIRDSGHLVHKDTLHSAMAVVSRLCGKMEPQ
DSSLEICVESLSSLLKHEDHQVSDGALRCFASLADRFTRRGVDPAPLAKHGLTEELLSRM
AAAGGTVSGPSSACKPGRSTTGAPSTTADSKLSNQVSTIVSLLSTLCRGSPVVTHDLLRS
ELPDSIESALQGDERCVLDTMRLVDLLLVLLFEGRKALPKSSAGSTGRIPGLRRLDSSGE
RSHRQLIDCIRSKDTDALIDAIDTGAFEVNFMDDVGQTLLNWASAFGTQEMVEFLCERGA
DVNRGQRSSSLHYAACFGRPQVAKTLLRHGANPDLRDEDGKTPLDKARERGHSEVVAILQ
SPGDWMCPVNKGDDKKKKDTNKDEEECNEPKGDPEMAPIYLKRLLPVFAQTFQQTMLPSI
RKASLALIRKMIHFCSEALLKEVCDSDVGHNLPTILVEITATVLDQEDDDDGHLLALQII
RDLVDKGGDIFLDQLARLGVISKVSTLAGPSSDDENEEESKPEKEDEPQEDAKELQQGKP
YHWRDWSIIRGRDCLYIWSDAAALELSNGSNGWFRFILDGKLATMYSSGSPEGGSDSSES
RSEFLEKLQRARGQVKPSTSSQPILSAPGPTKLTVGNWSLTCLKEGEIAIHNSDGQQATI
LKEDLPGFVFESNRGTKHSFTAETSLGSEFVTGWTGKRGRKLKSKLEKTKQKVRTMARDL
YDDHFKAVESMPRGVVVTLRNIATQLESSWELHTNRQCIESENTWRDLMKTALENLIVLL
KDENTISPYEMCSSGLVQALLTVLNNSMDLDMKQDCSQLVERINVFKTAFSENEDDESRP
AVALIRKLIAVLESIERLPLHLYDTPGSTYNLQILTRRLRFRLERAPGETALIDRTGRML
KMEPLATVESLEQYLLKMVAKQWYDFDRSSFVFVRKLREGQNFIFRHQHDFDENGIIYWI
GTNAKTAYEWVNPAAYGLVVVTSSEGRNLPYGRLEDILSRDNSALNCHSNDDKNAWFAID
LGLWVIPSAYTLRHARGYGRSALRNWVFQVSKDGQNWTSLYTHVDDCSLNEPGSTATWPL
DPPKDEKQGWRHVRIKQMGKNASGQTHYLSLSGFELYGTVNGVCEDQLGKAAKEAEANLR
RQRRLVRSQVLKYMVPGARVIRGLDWKWRDQDGSPQGEGTVTGELHNGWIDVTWDAGGSN
SYRMGAEGKFDLKLAPGYDPDTVASPKPVSSTVSGTTQSWSSLVKNNCPDKTSAAAGSSS
RKGSSSSVCSVASSSDISLGSTKTERRSEIVMEHSIVSGADVHEPIVVLSSAENVPQTEV
GSSSSASTSTLTAETGSENAERKLGPDSSVRTPGESSAISMGIVSVSSPDVSSVSELTNK
EAASQRPLSSSASNRLSVSSLLAAGAPMSSSASVPNLSSRETSSLESFVRRVANIARTNA
TNNMNLSRSSSDNNTNTLGRNVMSTATSPLMGAQSFPNLTTPGTTSTVTMSTSSVTSSSN
VATATTVLSVGQSLSNTLTTSLTSTSSESDTGQEAEYSLYDFLDSCRASTLLAELDDDED
LPEPDEEDDENEDDNQEDQEYEEVMILRRPSLQRRAGSRSDVTHHAVTSQLPQVPAGAGS
RPIGEQEEEEYETKGGRRRTWDDDYVLKRQFSALVPAFDPRPGRTNVQQTTDLEIPPPGT
PHSELLEEVECTPSPRLALTLKVTGLGTTREVELPLTNFRSTIFYYVQKLLQLSCNGNVK
SDKLRRIWEPTYTIMYREMKDSDKEKENGKMGCWSIEHVEQYLGTDELPKNDLITYLQKN
ADAAFLRHWKLTGTNKSIRKNRNCSQLIAAYKDFCEHGTKSGLNQGAISTLQSSDILNLT
KEQPQAKAGNGQNSCGVEDVLQLLRILYIVASDPYSRISQEDGDEQLQFTFPPDEFTSKK
ITTKILQQIEEPLALASGALPDWCEQLTSKCPFLIPFETRQLYFTCTAFGASRAIVWLQN
RREATVERTRTTSSVRRDDPGEFRVGRLKHERVKVPRGESLMEWAENVMQIHADRKSVLE
VEFLGEEGTGLGPTLEFYALVAAEFQRTDLGAWLCDDNFPDDESRHVDLGGGLKPPGYYV
QRSCGLFTAPFPQDSDELERITKLFHFLGIFLAKCIQDNRLVDLPISKPFFKLMCMGDIK
SNMSKLIYESRGDRDLHCTESQSEASTEEGHDSLSVGSFEEDSKSEFILDPPKPKPPAWF
NGILTWEDFELVNPHRARFLKEIKDLAIKRRQILSNKGLSEDEKNTKLQELVLKNPSGSG
PPLSIEDLGLNFQFCPSSRIYGFTAVDLKPSGEDEMITMDNAEEYVDLMFDFCMHTGIQK
QMEAFRDGFNKVFPMEKLSSFSHEEVQMILCGNQSPSWAAEDIINYTEPKLGYTRDSPGF
LRFVRVLCGMSSDERKAFLQFTTGCSTLPPGGLANLHPRLTVVRKVDATDASYPSVNTCV
HYLKLPEYSSEEIMRERLLAATMEKGFHLN

Sequence length

2610

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HECTD1-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	37149819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31257675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31171715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32675746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31607223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	31301385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29299163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29299163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	37165897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32319576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31257675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	31257675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28073378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	31698570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31607223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	37538797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26868259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35832649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32319576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HECTD1 (HECT domain E3 ubiquitin protein ligase 1)