Gene Gene information from NCBI Gene database.
Entrez ID 8916
Gene name HECT and RLD domain containing E3 ubiquitin protein ligase 3
Gene symbol HERC3
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4q22.1
Summary This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced tra
miRNA miRNA information provided by mirtarbase database.
102
miRTarBase ID miRNA Experiments Reference
MIRT025153 hsa-miR-181a-5p Microarray 17612493
MIRT046255 hsa-miR-23b-3p CLASH 23622248
MIRT1044341 hsa-miR-137 CLIP-seq
MIRT1044342 hsa-miR-153 CLIP-seq
MIRT1044343 hsa-miR-25 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781, 35637966
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0006511 Process Ubiquitin-dependent protein catabolic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605200 4876 ENSG00000138641
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15034
Protein name Probable E3 ubiquitin-protein ligase HERC3 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 3) (HECT-type E3 ubiquitin transferase HERC3)
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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00415 RCC1 52 99 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 102 152 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 155 205 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 313 377 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00632 HECT 752 1050 HECT-domain (ubiquitin-transferase) Domain
Sequence
MLCWGYWSLGQPGISTNLQGIVAEPQVCGFISDRSVKEVACGGNHSVFLLEDGEVYTCGL
NTKGQLGHEREGNKPEQIGALADQHIIHVACGESHSLAL
SDRGQLFSWGAGSDGQLGLMT
TEDSVAVPRLIQKLNQQTILQVSCGNWHCLAL
AADGQFFTWGKNSHGQLGLGKEFPSQAS
PQRVRSLEGIPLAQVAAGGAHSFAL
SLSGAVFGWGMNNAGQLGLSDEKDRESPCHVKLLR
TQKVVYISCGEEHTAVL
TKSGGVFTFGAGSCGQLGHDSMNDEVNPRRVLELMGSEVTQIA
CGRQHTLAF
VPSSGLIYAFGCGARGQLGTGHTCNVKCPSPVKGYWAAHSGQLSARADRFK
YHIVKQIFSGGDQTFVL
CSKYENYSPAVDFRTMNQAHYTSLINDETIAVWRQKLSEHNNA
NTINGVVQILSSAACWNGSFLEKKIDEHFKTSPKIPGIDLNSTRVLFEKLMNSQHSMILE
QILNSFESCLIPQLSSSPPDVEAMRIYLILPEFPLLQDSKYYITLTIPLAMAILRLDTNP
SKVLDNWWSQVCPKYFMKLVNLYKGAVLYLLRGRKTFLIPVLFNNYITAALKLLEKLYKV
NLKVKHVEYDTFYIPEISNLVDIQEDYLMWFLHQAGMKARPSIIQDTVTLCSYPFIFDAQ
AKTKMLQTDAELQMQVAVNGANLQNVFMLLTLEPLLARSPFLVLHVRRNNLVGDALRELS
IHSDIDLKKPLKVIFDGEEAVDAGGVTKEFFLLLLKELLNPIYGMFTYYQDSNLLWFSDT
CFVEHNWFHLIGITCGLAIYNSTVVDLHFPLALYKKLLNVKPGLEDLKELSPTEGRSLQE
LLDYPGEDVEETFCLNFTICRESYGVIEQKKLIPGGDNVTVCKDNRQEFVDAYVNYVFQI
SVHEWYTAFSSGFLKVCGGKVLELFQPSELRAMMVGNSNYNWEELEETAIYKGDYSATHP
TVKLFWETFHEFPLEKKKKFLLFLTGSDRIPIYGMASLQIVIQSTASGEEYLPVAHTCYN
LLDLPKYSSKEILSARLTQALDNYEGFSLA
Sequence length 1050
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
CYSTIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 29880857, 36598329 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36598329 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35064108 Inhibit
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35637966 Associate
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms CTD_human_DG 19233941
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of liver Liver Cancer CTD_human_DG 19233941
★☆☆☆☆
Found in Text Mining only