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	26091
Gene name	HECT and RLD domain containing E3 ubiquitin protein ligase 4
Gene symbol	HERC4
Synonyms (NCBI Gene)	-
Chromosome	10
Chromosome location	10q21.3
Summary	HERC4 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
MIRT020643	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT047890	hsa-miR-30c-5p	CLASH	23622248
MIRT046760	hsa-miR-222-3p	CLASH	23622248
MIRT1044380	hsa-miR-1228	CLIP-seq
MIRT1044381	hsa-miR-342-3p	CLIP-seq
MIRT1044382	hsa-miR-3942-5p	CLIP-seq
MIRT1044383	hsa-miR-4282	CLIP-seq
MIRT1044384	hsa-miR-4503	CLIP-seq
MIRT1044385	hsa-miR-4703-5p	CLIP-seq
MIRT1044386	hsa-miR-4760-3p	CLIP-seq
MIRT1044387	hsa-miR-4762-3p	CLIP-seq
MIRT1044388	hsa-miR-4766-5p	CLIP-seq
MIRT1044389	hsa-miR-587	CLIP-seq
MIRT1044390	hsa-miR-197	CLIP-seq
MIRT1044391	hsa-miR-2117	CLIP-seq
MIRT1044392	hsa-miR-3200-3p	CLIP-seq
MIRT1044393	hsa-miR-338-5p	CLIP-seq
MIRT1044394	hsa-miR-3686	CLIP-seq
MIRT1044395	hsa-miR-3921	CLIP-seq
MIRT1044396	hsa-miR-4452	CLIP-seq
MIRT1044397	hsa-miR-4653-5p	CLIP-seq
MIRT1044398	hsa-miR-4668-3p	CLIP-seq
MIRT1044399	hsa-miR-4680-3p	CLIP-seq
MIRT1044400	hsa-miR-4719	CLIP-seq
MIRT1044386	hsa-miR-4760-3p	CLIP-seq
MIRT1044401	hsa-miR-548c-3p	CLIP-seq
MIRT1044402	hsa-miR-628-5p	CLIP-seq
MIRT2009672	hsa-miR-1206	CLIP-seq
MIRT2009673	hsa-miR-129-5p	CLIP-seq
MIRT2009674	hsa-miR-132	CLIP-seq
MIRT2009675	hsa-miR-200b	CLIP-seq
MIRT2009676	hsa-miR-200c	CLIP-seq
MIRT2009677	hsa-miR-2115	CLIP-seq
MIRT2009678	hsa-miR-212	CLIP-seq
MIRT1044393	hsa-miR-338-5p	CLIP-seq
MIRT1044394	hsa-miR-3686	CLIP-seq
MIRT2009679	hsa-miR-375	CLIP-seq
MIRT2009680	hsa-miR-429	CLIP-seq
MIRT1044386	hsa-miR-4760-3p	CLIP-seq
MIRT2009681	hsa-miR-579	CLIP-seq
MIRT2009682	hsa-miR-889	CLIP-seq
MIRT2009673	hsa-miR-129-5p	CLIP-seq
MIRT2241954	hsa-miR-145	CLIP-seq
MIRT2241955	hsa-miR-155	CLIP-seq
MIRT1044390	hsa-miR-197	CLIP-seq
MIRT2009677	hsa-miR-2115	CLIP-seq
MIRT2241956	hsa-miR-224	CLIP-seq
MIRT2241957	hsa-miR-3140-3p	CLIP-seq
MIRT1044392	hsa-miR-3200-3p	CLIP-seq
MIRT2241958	hsa-miR-361-5p	CLIP-seq
MIRT2241959	hsa-miR-4325	CLIP-seq
MIRT2241960	hsa-miR-4427	CLIP-seq
MIRT1044396	hsa-miR-4452	CLIP-seq
MIRT2241961	hsa-miR-450b-5p	CLIP-seq
MIRT1044399	hsa-miR-4680-3p	CLIP-seq
MIRT2241962	hsa-miR-4711-5p	CLIP-seq
MIRT2241963	hsa-miR-4712-5p	CLIP-seq
MIRT2241964	hsa-miR-4717-3p	CLIP-seq
MIRT1044400	hsa-miR-4719	CLIP-seq
MIRT1044386	hsa-miR-4760-3p	CLIP-seq
MIRT2241965	hsa-miR-4774-5p	CLIP-seq
MIRT2241966	hsa-miR-4797-5p	CLIP-seq
MIRT2241967	hsa-miR-4803	CLIP-seq
MIRT2241968	hsa-miR-507	CLIP-seq
MIRT2241969	hsa-miR-543	CLIP-seq
MIRT2241970	hsa-miR-548g	CLIP-seq
MIRT2241971	hsa-miR-557	CLIP-seq
MIRT1044402	hsa-miR-628-5p	CLIP-seq
MIRT2241972	hsa-miR-770-5p	CLIP-seq
MIRT2009682	hsa-miR-889	CLIP-seq
MIRT1044390	hsa-miR-197	CLIP-seq
MIRT1044392	hsa-miR-3200-3p	CLIP-seq
MIRT1044396	hsa-miR-4452	CLIP-seq
MIRT1044399	hsa-miR-4680-3p	CLIP-seq
MIRT1044400	hsa-miR-4719	CLIP-seq
MIRT1044386	hsa-miR-4760-3p	CLIP-seq
MIRT1044402	hsa-miR-628-5p	CLIP-seq
MIRT1044380	hsa-miR-1228	CLIP-seq
MIRT2241955	hsa-miR-155	CLIP-seq
MIRT1044390	hsa-miR-197	CLIP-seq
MIRT2009675	hsa-miR-200b	CLIP-seq
MIRT2009676	hsa-miR-200c	CLIP-seq
MIRT2241957	hsa-miR-3140-3p	CLIP-seq
MIRT1044392	hsa-miR-3200-3p	CLIP-seq
MIRT2545648	hsa-miR-369-3p	CLIP-seq
MIRT1044383	hsa-miR-4282	CLIP-seq
MIRT2009680	hsa-miR-429	CLIP-seq
MIRT2545649	hsa-miR-4307	CLIP-seq
MIRT2241959	hsa-miR-4325	CLIP-seq
MIRT2241960	hsa-miR-4427	CLIP-seq
MIRT1044396	hsa-miR-4452	CLIP-seq
MIRT2241961	hsa-miR-450b-5p	CLIP-seq
MIRT1044399	hsa-miR-4680-3p	CLIP-seq
MIRT1044400	hsa-miR-4719	CLIP-seq
MIRT1044386	hsa-miR-4760-3p	CLIP-seq
MIRT1044387	hsa-miR-4762-3p	CLIP-seq
MIRT2545650	hsa-miR-4764-3p	CLIP-seq
MIRT1044388	hsa-miR-4766-5p	CLIP-seq
MIRT2241968	hsa-miR-507	CLIP-seq
MIRT2545651	hsa-miR-548a-3p	CLIP-seq
MIRT2545652	hsa-miR-548e	CLIP-seq
MIRT2545653	hsa-miR-548f	CLIP-seq
MIRT2241970	hsa-miR-548g	CLIP-seq
MIRT2241971	hsa-miR-557	CLIP-seq
MIRT1044402	hsa-miR-628-5p	CLIP-seq
MIRT2545654	hsa-miR-630	CLIP-seq
MIRT2545655	hsa-miR-664	CLIP-seq
MIRT1044380	hsa-miR-1228	CLIP-seq
MIRT2241955	hsa-miR-155	CLIP-seq
MIRT1044390	hsa-miR-197	CLIP-seq
MIRT2009675	hsa-miR-200b	CLIP-seq
MIRT2009676	hsa-miR-200c	CLIP-seq
MIRT2241957	hsa-miR-3140-3p	CLIP-seq
MIRT1044392	hsa-miR-3200-3p	CLIP-seq
MIRT2545648	hsa-miR-369-3p	CLIP-seq
MIRT1044383	hsa-miR-4282	CLIP-seq
MIRT2009680	hsa-miR-429	CLIP-seq
MIRT2545649	hsa-miR-4307	CLIP-seq
MIRT2241959	hsa-miR-4325	CLIP-seq
MIRT1044396	hsa-miR-4452	CLIP-seq
MIRT2241961	hsa-miR-450b-5p	CLIP-seq
MIRT1044399	hsa-miR-4680-3p	CLIP-seq
MIRT1044400	hsa-miR-4719	CLIP-seq
MIRT1044386	hsa-miR-4760-3p	CLIP-seq
MIRT1044387	hsa-miR-4762-3p	CLIP-seq
MIRT1044388	hsa-miR-4766-5p	CLIP-seq
MIRT2241968	hsa-miR-507	CLIP-seq
MIRT2545651	hsa-miR-548a-3p	CLIP-seq
MIRT2545652	hsa-miR-548e	CLIP-seq
MIRT2545653	hsa-miR-548f	CLIP-seq
MIRT2241970	hsa-miR-548g	CLIP-seq
MIRT2241971	hsa-miR-557	CLIP-seq
MIRT1044402	hsa-miR-628-5p	CLIP-seq
MIRT2545654	hsa-miR-630	CLIP-seq
MIRT2545655	hsa-miR-664	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS	17967448
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IMP	31010679
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
609248	24521	ENSG00000148634

Q5GLZ8

Protein name

Probable E3 ubiquitin-protein ligase HERC4 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 4) (HECT-type E3 ubiquitin transferase HERC4)

Protein function

Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	1 → 49	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	52 → 99	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	102 → 152	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	156 → 205	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	208 → 257	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	260 → 309	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	313 → 376	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00632	HECT	759 → 1057	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

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

Sequence

MLCWGNASFGQLGLGGIDEEIVLEPRKSDFFINKRVRDVGCGLRHTVFVLDDGTVYTCGC
NDLGQLGHEKSRKKPEQVVALDAQNIVAVSCGEAHTLALNDKGQVYAWGLDSDGQLGLVG
SEECIRVPRNIKSLSDIQIVQVACGYYHSLALSKASEVFCWGQNKYGQLGLGTDCKKQTS
PQLLKSLLGIPFMQVAAGGAHSFVLTLSGAIFGWGRNKFGQLGLNDENDRYVPNLLKSLR
SQKIVYICCGEDHTAALTKEGGVFTFGAGGYGQLGHNSTSHEINPRKVFELMGSIVTEIA
CGRQHTSAFVPSSGRIYSFGLGGNGQLGTGSTSNRKSPFTVKGNWYPYNGQCLPDIDSEE
YFCVKRIFSGGDQSFSHYSSPQNCGPPDDFRCPNPTKQIWTVNEALIQKWLSYPSGRFPV
EIANEIDGTFSSSGCLNGSFLAVSNDDHYRTGTRFSGVDMNAARLLFHKLIQPDHPQISQ
QVAASLEKNLIPKLTSSLPDVEALRFYLTLPECPLMSDSNNFTTIAIPFGTALVNLEKAP
LKVLENWWSVLEPPLFLKIVELFKEVVVHLLKLYKIGIPPSERRIFNSFLHTALKVLEIL
HRVNEKMGQIIQYDKFYIHEVQELIDIRNDYINWVQQQAYGMDVNHGLTELADIPVTICT
YPFVFDAQAKTTLLQTDAVLQMQMAIDQAHRQNVSSLFLPVIESVNPCLILVVRRENIVG
DAMEVLRKTKNIDYKKPLKVIFVGEDAVDAGGVRKEFFLLIMRELLDPKYGMFRYYEDSR
LIWFSDKTFEDSDLFHLIGVICGLAIYNCTIVDLHFPLALYKKLLKKKPSLDDLKELMPD
VGRSMQQLLDYPEDDIEETFCLNFTITVENFGATEVKELVLNGADTAVNKQNRQEFVDAY
VDYIFNKSVASLFDAFHAGFHKVCGGKVLLLFQPNELQAMVIGNTNYDWKELEKNTEYKG
EYWAEHPTIKIFWEVFHELPLEKKKQFLLFLTGSDRIPILGMKSLKLVIQSTGGGEEYLP
VSHTCFNLLDLPKYTEKETLRSKLIQAIDHNEGFSLI

Sequence length

1057

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		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 (3)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC AORTIC ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	25684480	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bisphosphonate Associated Osteonecrosis of the Jaw	Associate	28856724	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	33020551	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Neuroendocrine	Associate	25684480	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Injury	Associate	27125385	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	25684480	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	34202736	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	34202736	★★★★★ ★☆☆☆☆ Found in Text Mining only

HERC4 (HECT and RLD domain containing E3 ubiquitin protein ligase 4)