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	23072
Gene name	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
Gene symbol	HECW1
Synonyms (NCBI Gene)	NEDL1
Chromosome	7
Chromosome location	7p14.1-p13

Show/Hide all (71)

miRTarBase ID	miRNA	Experiments	Reference
MIRT536936	hsa-miR-29b-3p	PAR-CLIP	22012620
MIRT536935	hsa-miR-29a-3p	PAR-CLIP	22012620
MIRT536934	hsa-miR-29c-3p	PAR-CLIP	22012620
MIRT536933	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT536932	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT536931	hsa-miR-4422	PAR-CLIP	22012620
MIRT536930	hsa-miR-5692a	PAR-CLIP	22012620
MIRT536929	hsa-miR-548ao-5p	PAR-CLIP	22012620
MIRT536928	hsa-miR-548ax	PAR-CLIP	22012620
MIRT536927	hsa-miR-5585-5p	PAR-CLIP	22012620
MIRT536936	hsa-miR-29b-3p	PAR-CLIP	22012620
MIRT536935	hsa-miR-29a-3p	PAR-CLIP	22012620
MIRT536934	hsa-miR-29c-3p	PAR-CLIP	22012620
MIRT536933	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT536932	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT536931	hsa-miR-4422	PAR-CLIP	22012620
MIRT536930	hsa-miR-5692a	PAR-CLIP	22012620
MIRT536929	hsa-miR-548ao-5p	PAR-CLIP	22012620
MIRT536928	hsa-miR-548ax	PAR-CLIP	22012620
MIRT536927	hsa-miR-5585-5p	PAR-CLIP	22012620
MIRT1043624	hsa-miR-1208	CLIP-seq
MIRT1043625	hsa-miR-15a	CLIP-seq
MIRT1043626	hsa-miR-15b	CLIP-seq
MIRT1043627	hsa-miR-16	CLIP-seq
MIRT1043628	hsa-miR-185	CLIP-seq
MIRT1043629	hsa-miR-195	CLIP-seq
MIRT1043630	hsa-miR-205	CLIP-seq
MIRT1043631	hsa-miR-214	CLIP-seq
MIRT1043632	hsa-miR-3064-3p	CLIP-seq
MIRT1043633	hsa-miR-3125	CLIP-seq
MIRT1043634	hsa-miR-33a	CLIP-seq
MIRT1043635	hsa-miR-33b	CLIP-seq
MIRT1043636	hsa-miR-3619-5p	CLIP-seq
MIRT1043637	hsa-miR-3665	CLIP-seq
MIRT1043638	hsa-miR-3916	CLIP-seq
MIRT1043639	hsa-miR-3934	CLIP-seq
MIRT1043640	hsa-miR-424	CLIP-seq
MIRT1043641	hsa-miR-4252	CLIP-seq
MIRT1043642	hsa-miR-4282	CLIP-seq
MIRT1043643	hsa-miR-4291	CLIP-seq
MIRT1043644	hsa-miR-4306	CLIP-seq
MIRT1043645	hsa-miR-4534	CLIP-seq
MIRT1043646	hsa-miR-4644	CLIP-seq
MIRT1043647	hsa-miR-4705	CLIP-seq
MIRT1043648	hsa-miR-4711-5p	CLIP-seq
MIRT1043649	hsa-miR-4715-3p	CLIP-seq
MIRT1043650	hsa-miR-4776-3p	CLIP-seq
MIRT1043651	hsa-miR-4777-3p	CLIP-seq
MIRT1043652	hsa-miR-497	CLIP-seq
MIRT1043653	hsa-miR-513a-3p	CLIP-seq
MIRT1043654	hsa-miR-570	CLIP-seq
MIRT1043655	hsa-miR-761	CLIP-seq
MIRT1043656	hsa-miR-922	CLIP-seq
MIRT1043624	hsa-miR-1208	CLIP-seq
MIRT1043632	hsa-miR-3064-3p	CLIP-seq
MIRT1043641	hsa-miR-4252	CLIP-seq
MIRT1043642	hsa-miR-4282	CLIP-seq
MIRT2009417	hsa-miR-4428	CLIP-seq
MIRT1043649	hsa-miR-4715-3p	CLIP-seq
MIRT1043650	hsa-miR-4776-3p	CLIP-seq
MIRT1043653	hsa-miR-513a-3p	CLIP-seq
MIRT2241795	hsa-miR-3153	CLIP-seq
MIRT2241796	hsa-miR-4668-5p	CLIP-seq
MIRT2241797	hsa-miR-571	CLIP-seq
MIRT1043624	hsa-miR-1208	CLIP-seq
MIRT1043632	hsa-miR-3064-3p	CLIP-seq
MIRT1043641	hsa-miR-4252	CLIP-seq
MIRT1043642	hsa-miR-4282	CLIP-seq
MIRT1043649	hsa-miR-4715-3p	CLIP-seq
MIRT1043650	hsa-miR-4776-3p	CLIP-seq
MIRT1043653	hsa-miR-513a-3p	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS

MIM	HGNC	e!Ensembl
610384	22195	ENSG00000002746

Q76N89

Protein name

E3 ubiquitin-protein ligase HECW1 (EC 2.3.2.26) (HECT, C2 and WW domain-containing protein 1) (HECT-type E3 ubiquitin transferase HECW1) (NEDD4-like E3 ubiquitin-protein ligase 1) (hNEDL1)

Protein function

E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SO

PDB

3L4H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16562	HECW_N	65 → 184	N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2	Domain
PF00168	C2	206 → 319	C2 domain	Domain
PF00397	WW	831 → 860	WW domain	Domain
PF18436	HECW1_helix	948 → 1014	Helical box domain of E3 ubiquitin-protein ligase HECW1	Domain
PF00632	HECT	1301 → 1606	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney. {ECO:0000269|PubMed:14684739}.

Sequence

MLLHLCSVKNLYQNRFLGLAAMASPSRNSQSRRRCKEPLRYSYNPDQFHNMDLRGGPHDG
VTIPRSTSDTDLVTSDSRSTLMVSSSYYSIGHSQDLVIHWDIKEEVDAGDWIGMYLIDEV
LSENFLDYKNRGVNGSHRGQIIWKIDASSYFVEPETKICFKYYHGVSGALRATTPSVTVK
NSAAPIFKSIGADETVQGQGSRRLISFSLSDFQAMGLKKGMFFNPDPYLKISIQPGKHSI
FPALPHHGQERRSKIIGNTVNPIWQAEQFSFVSLPTDVLEIEVKDKFAKSRPIIKRFLGK
LSMPVQRLLERHAIGDRVVSYTLGRRLPTDHVSGQLQFRFEITSSIHPDDEEISLSTEPE
SAQIQDSPMNNLMESGSGEPRSEAPESSESWKPEQLGEGSVPDGPGNQSIELSRPAEEAA
VITEAGDQGMVSVGPEGAGELLAQVQKDIQPAPSAEELAEQLDLGEEASALLLEDGEAPA
STKEEPLEEEATTQSRAGREEEEKEQEEEGDVSTLEQGEGRLQLRASVKRKSRPCSLPVS
ELETVIASACGDPETPRTHYIRIHTLLHSMPSAQGGSAAEEEDGAEEESTLKDSSEKDGL
SEVDTVAADPSALEEDREEPEGATPGTAHPGHSGGHFPSLANGAAQDGDTHPSTGSESDS
SPRQGGDHSCEGCDASCCSPSCYSSSCYSTSCYSSSCYSASCYSPSCYNGNRFASHTRFS
SVDSAKISESTVFSSQDDEEEENSAFESVPDSMQSPELDPESTNGAGPWQDELAAPSGHV
ERSPEGLESPVAGPSNRREGECPILHNSQPVSQLPSLRPEHHHYPTIDEPLPPNWEARID
SHGRVFYVDHVNRTTTWQRPTAAATPDGMRRSGSIQQMEQLNRRYQNIQRTIATERSEED
SGSQSCEQAPAGGGGGGGSDSEAESSQSSLDLRREGSLSPVNSQKITLLLQSPAVKFITN
PEFFTVLHANYSAYRVFTSSTCLKHMILKVRRDARNFERYQHNRDLVNFINMFADTRLEL
PRGWEIKTDQQGKSFFVDHNSRATTFIDPRIPLQNGRLPNHLTHRQHLQRLRSYSAGEAS
EVSRNRGASLLARPGHSLVAAIRSQHQHESLPLAYNDKIVAFLRQPNIFEMLQERQPSLA
RNHTLREKIHYIRTEGNHGLEKLSCDADLVILLSLFEEEIMSYVPLQAAFHPGYSFSPRC
SPCSSPQNSPGLQRASARAPSPYRRDFEAKLRNFYRKLEAKGFGQGPGKIKLIIRRDHLL
EGTFNQVMAYSRKELQRNKLYVTFVGEEGLDYSGPSREFFFLLSQELFNPYYGLFEYSAN
DTYTVQISPMSAFVENHLEWFRFSGRILGLALIHQYLLDAFFTRPFYKALLRLPCDLSDL
EYLDEEFHQSLQWMKDNNITDILDLTFTVNEEVFGQVTERELKSGGANTQVTEKNKKEYI
ERMVKWRVERGVVQQTEALVRGFYEVVDSRLVSVFDARELELVIAGTAEIDLNDWRNNTE
YRGGYHDGHLVIRWFWAAVERFNNEQRLRLLQFVTGTSSVPYEGFAALRGSNGLRRFCIE
KWGKITSLPRAHTCFNRLDLPPYPSYSMLYEKLLTAVEETSTFGLE

Sequence length

1606

Interactions

View interactions

	Reactome
			Degradation of DVL

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 (9)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	23535033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	23535033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	36674783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31126634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19267401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21108931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34348693	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	29559693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	28585551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38049396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31057023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31057023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34348693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19267401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	29753763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	29753763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	31238008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HECW1 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1)