HERC6 Gene (Protein Coding)

HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6

GC04P088378
GIFtS:
36
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 transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochr... See more...

Aliases for HERC6 Gene

Aliases for HERC6 Gene

  • HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6 2 3 5
  • HECT Domain And RCC1-Like Domain-Containing Protein 6 3 4
  • Probable E3 Ubiquitin-Protein Ligase HERC6 3 4
  • HECT-Type E3 Ubiquitin Transferase HERC6 3 4
  • Hect Domain And RLD 6 2 3
  • Potential Ubiquitin Ligase 3
  • EC 2.3.2.26 4
  • FLJ20637 2
  • EC 6.3.2 51
  • HERC6 5

External Ids for HERC6 Gene

Previous GeneCards Identifiers for HERC6 Gene

  • GC04U900413
  • GC04P089603
  • GC04P089518
  • GC04P089299
  • GC04P085051

Summaries for HERC6 Gene

Entrez Gene Summary for HERC6 Gene

  • 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 transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

GeneCards Summary for HERC6 Gene

HERC6 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6) is a Protein Coding gene. Diseases associated with HERC6 include Marburg Hemorrhagic Fever. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HERC3.

UniProtKB/Swiss-Prot Summary for HERC6 Gene

  • 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.

Additional gene information for HERC6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HERC6 Gene

Genomics for HERC6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HERC6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J088279 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.2 -95.3 -95313 6.7 CHD2 TBP ZBTB10 SP1 FEZF1 NR2C1 MNT SMAD5 ZFP64 MBD2 PPM1K-DT PPM1K lnc-ABCG2-2 HERC6 RF00026-805 RNU6-112P ABCG2
GH04J088378 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 255.9 +0.6 624 1.8 ZBTB10 BCL11A IRF2 CTCF BHLHE40 ZBTB7B ZEB1 ZIC2 ZNF610 SIN3A HERC6 HSALNG0035753 HSALNG0035755 piR-43325-067 HERC5
GH04J088455 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.7 +78.8 78785 3.9 ZBTB10 FEZF1 NR2C1 IKZF1 ZNF217 CTCF ZEB1 ZIC2 HOMEZ ZNF610 HERC5 HSALNG0035759 lnc-PYURF-3 HERC6 ENSG00000270720 LOC102723458 PIGY PYURF
GH04J088381 Enhancer 0.8 FANTOM5 ENCODE 18.6 +3.8 3758 2.3 SP1 ZNF316 ELF1 IKZF1 ATF2 POLR2A MAFK IKZF2 ZNF687 MTA2 HERC6 HERC5 HSALNG0035755 piR-43325-067
GH04J088340 Enhancer 0.8 Ensembl ENCODE 11.8 -37.0 -37030 2.1 FOXA2 PRDM6 FOXA1 ZNF362 IKZF1 TRIM28 FOSL2 SPI1 FOS ZBTB17 PPM1K-DT HERC6 PPM1K lnc-HERC6-1 ENSG00000207480
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HERC6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HERC6

Top Transcription factor binding sites by QIAGEN in the HERC6 gene promoter:
  • AML1a
  • AP-4
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for HERC6 Gene

Latest Assembly
chr4:88,378,485-88,443,097
(GRCh38/hg38)
Size:
64,613 bases
Orientation:
Plus strand

Previous Assembly
chr4:89,300,004-89,364,249
(GRCh37/hg19 by Entrez Gene)
Size:
64,246 bases
Orientation:
Plus strand

chr4:89,299,891-89,364,263
(GRCh37/hg19 by Ensembl)
Size:
64,373 bases
Orientation:
Plus strand

Genomic View for HERC6 Gene

Genes around HERC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HERC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HERC6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HERC6 Gene

Proteins for HERC6 Gene

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  • Protein details for HERC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVU3-HERC6_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase HERC6
    Protein Accession:
    Q8IVU3
    Secondary Accessions:
    • B4DIY5
    • Q5GC90
    • Q5GRH3
    • Q5HYM6
    • Q5JPB6
    • Q6PIF4
    • Q8NAN3
    • Q9NWS4

    Protein attributes for HERC6 Gene

    Size:
    1022 amino acids
    Molecular mass:
    115126 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91303.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC03879.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI46056.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI46151.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Major transcript.
    • [Isoform 2]: Minor transcript.
    • [Isoform 3]: Minor transcript.

    Three dimensional structures from OCA and Proteopedia for HERC6 Gene

    Alternative splice isoforms for HERC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HERC6 Gene

Protein Expression for HERC6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for HERC6 Gene

Q8IVU3:
  • QVAAGGAHSF
  • YHSLALSK
  • FPLALYKKLL

Post-translational modifications for HERC6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HERC6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HERC6 Gene

Gene Families for HERC6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HERC6 Gene

InterPro:
Blocks:
  • HECT domain (Ubiquitin-protein ligase)
ProtoNet:

Suggested Antigen Peptide Sequences for HERC6 Gene

GenScript: Design optimal peptide antigens:
  • HECT domain and RCC1-like domain-containing protein 6 (HERC6_HUMAN)
genes like me logo Genes that share domains with HERC6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HERC6 Gene

Function for HERC6 Gene

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  1. Animal Models for research
  2. CRISPR products for research
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  6. Cell Lines for research

Molecular function for HERC6 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.26;.

Enzyme Numbers (IUBMB) for HERC6 Gene

Phenotypes From GWAS Catalog for HERC6 Gene

Gene Ontology (GO) - Molecular Function for HERC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HERC6: view
genes like me logo Genes that share phenotypes with HERC6: view

Animal Models for HERC6 Gene

MGI Knock Outs for HERC6:
  • Herc6 Herc6<tm1b(EUCOMM)Hmgu>

Animal Models for research

miRNA for HERC6 Gene

miRTarBase miRNAs that target HERC6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HERC6

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HERC6 Gene

Localization for HERC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HERC6 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HERC6 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HERC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HERC6: view

Pathways & Interactions for HERC6 Gene

genes like me logo Genes that share pathways with HERC6: view

UniProtKB/Swiss-Prot Q8IVU3-HERC6_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HERC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with HERC6: view

No data available for SIGNOR curated interactions for HERC6 Gene

Drugs & Compounds for HERC6 Gene

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No Compound Related Data Available

Transcripts for HERC6 Gene

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mRNA/cDNA for HERC6 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HERC6

Alternative Splicing Database (ASD) splice patterns (SP) for HERC6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - -
SP6: - -
SP7:
SP8:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for HERC6 Gene

GeneLoc Exon Structure for
HERC6

Expression for HERC6 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HERC6 Gene

mRNA expression in normal human tissues for HERC6 Gene
mRNA expression by GTEx for HERC6 GenemRNA expression by BioGPS for HERC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HERC6 Gene

This gene is overexpressed in Fetal heart (17.8), Heart (12.4), Liver (11.6), Plasma (10.3), Monocytes (8.7), and Platelet (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HERC6 Gene



Protein tissue co-expression partners for HERC6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HERC6

SOURCE GeneReport for Unigene cluster for HERC6 Gene:

Hs.529317

mRNA Expression by UniProt/SwissProt for HERC6 Gene:

Q8IVU3-HERC6_HUMAN
Tissue specificity: Detected in brain, heart, placenta and testis.

Evidence on tissue expression from TISSUES for HERC6 Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Lymph node(4.3)
  • Heart(4.3)
genes like me logo Genes that share expression patterns with HERC6: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HERC6 Gene

Orthologs for HERC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for HERC6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HERC6 30 31
  • 98.73 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HERC6 30 31
  • 82.96 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HERC6 30 31
  • 82.94 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Herc6 30 17 31
  • 77.25 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Herc6 30
  • 76.38 (n)
Oppossum
(Monodelphis domestica)
 Mammalia HERC6 31
  • 57 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HERC6 31
  • 43 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia herc6 30
  • 56.01 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6678 31
  • 20 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea K11D2.1 31
  • 21 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 22 (a)
 OneToMany
Species where no ortholog for HERC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for HERC6 Gene

ENSEMBL:
Gene Tree for HERC6 (if available)
TreeFam:
Gene Tree for HERC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HERC6: view image

Paralogs for HERC6 Gene

Paralogs for HERC6 Gene

(9) SIMAP similar genes for HERC6 Gene using alignment to 3 proteins:

  • HERC6_HUMAN
  • D6RCT4_HUMAN
  • H0Y9U0_HUMAN
genes like me logo Genes that share paralogs with HERC6: view

Variants for HERC6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HERC6 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs143485545 Benign: not provided 88,436,931(+) C/A
NM_017912.4(HERC6):c.2444C>A (p.Ala815Asp) 		MISSENSE
rs4413373 Benign: not provided 88,442,452(+) C/T
NM_017912.4(HERC6):c.3061C>T (p.Gln1021Ter) 		NONSENSE
rs60722298 Benign: not provided 88,390,731(+) G/A
NM_017912.4(HERC6):c.516G>A (p.Pro172=) 		SYNONYMOUS
rs61734924 Benign: not provided 88,423,879(+) G/A
NM_017912.4(HERC6):c.1733G>A (p.Arg578Gln) 		MISSENSE
rs61740296 Benign: not provided 88,442,360(+) C/A
NM_017912.4(HERC6):c.2969C>A (p.Ser990Tyr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HERC6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HERC6 Gene

Variant ID Type Subtype PubMed ID
esv3601302 CNV loss 21293372
esv3601304 CNV loss 21293372
nsv1073353 CNV deletion 25765185
nsv1074734 CNV deletion 25765185
nsv1136886 CNV deletion 24896259
nsv1142613 CNV deletion 24896259

Variation tolerance for HERC6 Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.31; 81.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HERC6 Gene

Human Gene Mutation Database (HGMD)
HERC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HERC6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HERC6 Gene

Disorders for HERC6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HERC6 Gene - From: COP

Disorder Aliases PubMed IDs
marburg hemorrhagic fever
  • marburg disease
- elite association - COSMIC cancer census association via MalaCards
Search HERC6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HERC6

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HERC6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HERC6 Gene

Publications for HERC6 Gene

  1. The human HERC family of ubiquitin ligases: novel members, genomic organization, expression profiling, and evolutionary aspects. (PMID: 15676274) Hochrainer K … Kroismayr R (Genomics 2005) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity. (PMID: 29643511) Pao KC … Virdee S (Nature 2018) 3
  5. The essential player in adipogenesis GRP78 is a novel KCTD15 interactor. (PMID: 29665387) Smaldone G … Pedone E (International journal of biological macromolecules 2018) 3

ExternalLinks

View latest publications for HERC6 gene in Mastermind

Products for HERC6 Gene

Sources for HERC6 Gene