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	55008
Gene name	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6
Gene symbol	HERC6
Synonyms (NCBI Gene)	-
Chromosome	4
Chromosome location	4q22.1
Summary	HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transf

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000859	hsa-miR-15a-5p	Microarray	18362358
MIRT000858	hsa-miR-16-5p	Microarray	18362358
MIRT531737	hsa-miR-591	PAR-CLIP	20371350
MIRT531737	hsa-miR-591	PAR-CLIP	22012620
MIRT531737	hsa-miR-591	PAR-CLIP	20371350
MIRT531737	hsa-miR-591	PAR-CLIP	22012620
MIRT1044409	hsa-miR-15a	CLIP-seq
MIRT1044410	hsa-miR-15b	CLIP-seq
MIRT1044411	hsa-miR-16	CLIP-seq
MIRT1044412	hsa-miR-181a	CLIP-seq
MIRT1044413	hsa-miR-181b	CLIP-seq
MIRT1044414	hsa-miR-181c	CLIP-seq
MIRT1044415	hsa-miR-181d	CLIP-seq
MIRT1044416	hsa-miR-195	CLIP-seq
MIRT1044417	hsa-miR-2682	CLIP-seq
MIRT1044418	hsa-miR-34a	CLIP-seq
MIRT1044419	hsa-miR-34c-5p	CLIP-seq
MIRT1044420	hsa-miR-3609	CLIP-seq
MIRT1044421	hsa-miR-3714	CLIP-seq
MIRT1044422	hsa-miR-424	CLIP-seq
MIRT1044423	hsa-miR-4262	CLIP-seq
MIRT1044424	hsa-miR-4457	CLIP-seq
MIRT1044425	hsa-miR-449a	CLIP-seq
MIRT1044426	hsa-miR-449b	CLIP-seq
MIRT1044427	hsa-miR-449c	CLIP-seq
MIRT1044428	hsa-miR-497	CLIP-seq
MIRT1044429	hsa-miR-545	CLIP-seq
MIRT1044430	hsa-miR-548ah	CLIP-seq
MIRT1044431	hsa-miR-548k	CLIP-seq
MIRT1044432	hsa-miR-548p	CLIP-seq
MIRT1044433	hsa-miR-548t	CLIP-seq
MIRT2545672	hsa-miR-1	CLIP-seq
MIRT2545673	hsa-miR-1273g	CLIP-seq
MIRT2545674	hsa-miR-1303	CLIP-seq
MIRT2545675	hsa-miR-206	CLIP-seq
MIRT2545676	hsa-miR-219-2-3p	CLIP-seq
MIRT2545677	hsa-miR-24	CLIP-seq
MIRT2545678	hsa-miR-2964a-3p	CLIP-seq
MIRT2545679	hsa-miR-3187-3p	CLIP-seq
MIRT2545680	hsa-miR-3646	CLIP-seq
MIRT2545681	hsa-miR-3650	CLIP-seq
MIRT2545682	hsa-miR-3665	CLIP-seq
MIRT2545683	hsa-miR-3673	CLIP-seq
MIRT2545684	hsa-miR-3690	CLIP-seq
MIRT2545685	hsa-miR-4254	CLIP-seq
MIRT2545686	hsa-miR-4284	CLIP-seq
MIRT2545687	hsa-miR-4435	CLIP-seq
MIRT2545688	hsa-miR-4463	CLIP-seq
MIRT2545689	hsa-miR-4499	CLIP-seq
MIRT2545690	hsa-miR-4701-5p	CLIP-seq
MIRT2545691	hsa-miR-491-3p	CLIP-seq
MIRT2545692	hsa-miR-548s	CLIP-seq
MIRT2545693	hsa-miR-588	CLIP-seq
MIRT2545694	hsa-miR-613	CLIP-seq
MIRT2545695	hsa-miR-657	CLIP-seq
MIRT2545696	hsa-miR-759	CLIP-seq
MIRT2545672	hsa-miR-1	CLIP-seq
MIRT2545673	hsa-miR-1273g	CLIP-seq
MIRT2545674	hsa-miR-1303	CLIP-seq
MIRT2545675	hsa-miR-206	CLIP-seq
MIRT2545676	hsa-miR-219-2-3p	CLIP-seq
MIRT2545677	hsa-miR-24	CLIP-seq
MIRT2545678	hsa-miR-2964a-3p	CLIP-seq
MIRT2545679	hsa-miR-3187-3p	CLIP-seq
MIRT2545680	hsa-miR-3646	CLIP-seq
MIRT2545681	hsa-miR-3650	CLIP-seq
MIRT2545683	hsa-miR-3673	CLIP-seq
MIRT2545684	hsa-miR-3690	CLIP-seq
MIRT2545685	hsa-miR-4254	CLIP-seq
MIRT2545686	hsa-miR-4284	CLIP-seq
MIRT2545687	hsa-miR-4435	CLIP-seq
MIRT2545688	hsa-miR-4463	CLIP-seq
MIRT2545689	hsa-miR-4499	CLIP-seq
MIRT2545690	hsa-miR-4701-5p	CLIP-seq
MIRT2545691	hsa-miR-491-3p	CLIP-seq
MIRT2545692	hsa-miR-548s	CLIP-seq
MIRT2545693	hsa-miR-588	CLIP-seq
MIRT2545694	hsa-miR-613	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0009617	Process	Response to bacterium	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
609249	26072	ENSG00000138642

Q8IVU3

Protein name

Probable E3 ubiquitin-protein ligase HERC6 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 6) (HECT-type E3 ubiquitin transferase HERC6)

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.

PDB

5W87

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	41 → 90	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	93 → 143	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	146 → 196	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	254 → 302	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00632	HECT	722 → 1016	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, heart, placenta and testis. {ECO:0000269|PubMed:15676274}.

Sequence

MYFCWGADSRELQRRRTAGSPGAELLQAASGERHSLLLLTNHRVLSCGDNSRGQLGRRGA
QRGELPEPIQALETLIVDLVSCGKEHSLAVCHKGRVFAWGAGSEGQLGIGEFKEISFTPK
KIMTLNDIKIIQVSCGHYHSLALSKDSQVFSWGKNSHGQLGLGKEFPSQASPQRVRSLEG
IPLAQVAAGGAHSFALSLCGTSFGWGSNSAGQLALSGRNVPVQSNKPLSVGALKNLGVVY
ISCGDAHTAVLTQDGKVFTFGDNRSGQLGYSPTPEKRGPQLVERIDGLVSQIDCGSYHTL
AYVHTTGQVVSFGHGPSDTSKPTHPEALTENFDISCLISAEDFVDVQVKHIFAGTYANFV
TTHQDTSSTRAPGKTLPEISRISQSMAEKWIAVKRRSTEHEMAKSEIRMIFSSPACLTAS
FLKKRGTGETTSIDVDLEMARDTFKKLTKKEWISSMITTCLEDDLLRALPCHSPHQEALS
VFLLLPECPVMHDSKNWKNLVVPFAKAVCEMSKQSLQVLKKCWAFLQESSLNPLIQMLKA
AIISQLLHQTKTEQDHCNVKALLGMMKELHKVNKANCRLPENTFNINELSNLLNFYIDRG
RQLFRDNHLIPAETPSPVIFSDFPFIFNSLSKIKLLQADSHIKMQMSEKKAYMLMHETIL
QKKDEFPPSPRFILRVRRSRLVKDALRQLSQAEATDFCKVLVVEFINEICPESGGVSSEF
FHCMFEEMTKPEYGMFMYPEMGSCMWFPAKPKPEKKRYFLFGMLCGLSLFNLNVANLPFP
LALYKKLLDQKPSLEDLKELSPRLGKSLQEVLDDAADDIGDALCIRFSIHWDQNDVDLIP
NGISIPVDQTNKRDYVSKYIDYIFNVSVKAVYEEFQRGFYRVCEKEILRHFYPEELMTAI
IGNTDYDWKQFEQNSKYEQGYQKSHPTIQLFWKAFHKLTLDEKKKFLFFLTGRDRLHARG
IQKMEIVFRCPETFSERDHPTSITCHNILSLPKYSTMERMEEALQVAINNNRGFVSPMLT
QS

Sequence length

1022

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 (4)

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.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	29266413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35757721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35880641	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	38130724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	29266413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	38130724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HERC6 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 6)