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	51191
Gene name	HECT and RLD domain containing E3 ubiquitin protein ligase 5
Gene symbol	HERC5
Synonyms (NCBI Gene)	CEB1CEBP1
Chromosome	4
Chromosome location	4q22.1
Summary	This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and pe

Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023970	hsa-miR-1-3p	Microarray	18668037
MIRT616823	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT616823	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT1044403	hsa-miR-3065-5p	CLIP-seq
MIRT1044404	hsa-miR-3123	CLIP-seq
MIRT1044405	hsa-miR-3925-5p	CLIP-seq
MIRT1044406	hsa-miR-4520a-3p	CLIP-seq
MIRT1044407	hsa-miR-4520b-3p	CLIP-seq
MIRT1044408	hsa-miR-4687-3p	CLIP-seq
MIRT1044404	hsa-miR-3123	CLIP-seq
MIRT2545656	hsa-miR-135a	CLIP-seq
MIRT2545657	hsa-miR-135b	CLIP-seq
MIRT2545658	hsa-miR-3074-5p	CLIP-seq
MIRT2545659	hsa-miR-3124-3p	CLIP-seq
MIRT2545660	hsa-miR-3155	CLIP-seq
MIRT2545661	hsa-miR-3155b	CLIP-seq
MIRT2545662	hsa-miR-34c-3p	CLIP-seq
MIRT2545663	hsa-miR-3646	CLIP-seq
MIRT2545664	hsa-miR-370	CLIP-seq
MIRT2545665	hsa-miR-4778-3p	CLIP-seq
MIRT2545666	hsa-miR-484	CLIP-seq
MIRT2545667	hsa-miR-548aa	CLIP-seq
MIRT2545668	hsa-miR-548ac	CLIP-seq
MIRT2545669	hsa-miR-548d-3p	CLIP-seq
MIRT2545670	hsa-miR-548z	CLIP-seq
MIRT2545671	hsa-miR-642a	CLIP-seq
MIRT2545658	hsa-miR-3074-5p	CLIP-seq
MIRT2545659	hsa-miR-3124-3p	CLIP-seq
MIRT2545664	hsa-miR-370	CLIP-seq
MIRT2545665	hsa-miR-4778-3p	CLIP-seq
MIRT2545671	hsa-miR-642a	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	10581175
GO:0002376	Process	Immune system process	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	20133869, 20308324
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16407192
GO:0005737	Component	Cytoplasm	IDA	10581175
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	15331633
GO:0016740	Function	Transferase activity	IEA
GO:0032020	Process	ISG15-protein conjugation	IBA
GO:0032020	Process	ISG15-protein conjugation	IDA	16407192
GO:0032020	Process	ISG15-protein conjugation	IDA	16407192, 20308324
GO:0039585	Process	PKR/eIFalpha signaling	TAS
GO:0042296	Function	ISG15 transferase activity	IBA
GO:0042296	Function	ISG15 transferase activity	IDA	16407192, 20308324
GO:0045087	Process	Innate immune response	IDA	28724761
GO:0045087	Process	Innate immune response	IDA	28724761
GO:0045087	Process	Innate immune response	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050688	Process	Regulation of defense response to virus	IDA	20308324
GO:0051607	Process	Defense response to virus	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	15331633

MIM	HGNC	e!Ensembl
608242	24368	ENSG00000138646

Q9UII4

Protein name

E3 ISG15--protein ligase HERC5 (EC 2.3.2.-) (Cyclin-E-binding protein 1) (HECT domain and RCC1-like domain-containing protein 5)

Protein function

Major E3 ligase for ISG15 conjugation (PubMed:26355087, PubMed:27534820, PubMed:27564865, PubMed:34572049, PubMed:37279284). Acts as a positive regulator of innate antiviral response in cells induced by interferon. Functions as part of the ISGyl

PDB

8Y4Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	156 → 206	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	209 → 258	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	261 → 310	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	315 → 373	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00632	HECT	731 → 1024	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis and to a lesser degree in brain, ovary and placenta. Found in most tissues at low levels. {ECO:0000269|PubMed:10581175, ECO:0000269|PubMed:15331633}.

Sequence

MERRSRRKSRRNGRSTAGKAAATQPAKSPGAQLWLFPSAAGLHRALLRRVEVTRQLCCSP
GRLAVLERGGAGVQVHQLLAGSGGARTPKCIKLGKNMKIHSVDQGAEHMLILSSDGKPFE
YDNYSMKHLRFESILQEKKIIQITCGDYHSLALSKGGELFAWGQNLHGQLGVGRKFPSTT
TPQIVEHLAGVPLAQISAGEAHSMALSMSGNIYSWGKNECGQLGLGHTESKDDPSLIEGL
DNQKVEFVACGGSHSALLTQDGLLFTFGAGKHGQLGHNSTQNELRPCLVAELVGYRVTQI
ACGRWHTLAYVSDLGKVFSFGSGKDGQLGNGGTRDQLMPLPVKVSSSEELKLESHTSEKE
LIMIAGGNQSILLWIKKENSYVNLKRTIPTLNEGTVKRWIADVETKRWQSTKREIQEIFS
SPACLTGSFLRKRRTTEMMPVYLDLNKARNIFKELTQKDWITNMITTCLKDNLLKRLPFH
SPPQEALEIFFLLPECPMMHISNNWESLVVPFAKVVCKMSDQSSLVLEEYWATLQESTFS
KLVQMFKTAVICQLDYWDESAEENGNVQALLEMLKKLHRVNQVKCQLPESIFQVDELLHR
LNFFVEVCRRYLWKMTVDASENVQCCVIFSHFPFIFNNLSKIKLLHTDTLLKIESKKHKA
YLRSAAIEEERESEFALRPTFDLTVRRNHLIEDVLNQLSQFENEDLRKELWVSFSGEIGY
DLGGVKKEFFYCLFAEMIQPEYGMFMYPEGASCMWFPVKPKFEKKRYFFFGVLCGLSLFN
CNVANLPFPLALFKKLLDQMPSLEDLKELSPDLGKNLQTLLDDEGDNFEEVFYIHFNVHW
DRNDTNLIPNGSSITVNQTNKRDYVSKYINYIFNDSVKAVYEEFRRGFYKMCDEDIIKLF
HPEELKDVIVGNTDYDWKTFEKNARYEPGYNSSHPTIVMFWKAFHKLTLEEKKKFLVFLT
GTDRLQMKDLNNMKITFCCPESWNERDPIRALTCFSVLFLPKYSTMETVEEALQEAINNN
RGFG

Sequence length

1024

Interactions

View interactions

	Reactome
			ISG15 antiviral mechanism DDX58/IFIH1-mediated induction of interferon-alpha/beta Negative regulators of DDX58/IFIH1 signaling 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.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD	★★★★★ ★★☆☆☆ 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 (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30954792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	20186858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36189314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	20186858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26653219, 32132870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25353388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	20186858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	20186858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35178132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	28035070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28035070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28035070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28035070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28035070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	28599020		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17387343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30954792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26653219, 28919514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28919514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	36532018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25353388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21087171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	23690996, 28569178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25353388, 26653219, 31225658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25353388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36807122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28611294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15477757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	11006413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35958619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HERC5 (HECT and RLD domain containing E3 ubiquitin protein ligase 5)