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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 4
  • HECT-Type E3 Ubiquitin Transferase HERC6 4
  • Hect Domain And RLD 6 2
  • EC 2.3.2.26 4
  • EC 6.3.2 58

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 Meningococcal Meningitis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HERC5.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for HERC6 Gene

Genomics for HERC6 Gene

Regulatory Elements for HERC6 Gene

Enhancers for HERC6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H088381 1.3 FANTOM5 Ensembl ENCODE 18.7 +3.7 3709 2 PKNOX1 ZNF687 STAT1 ELF1 ZNF592 RELA SP1 ZNF316 IKZF1 STAT2 HERC6 HERC5 GC04M088341
GH04H088455 1.7 FANTOM5 Ensembl ENCODE 12.6 +78.2 78199 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 SP3 ENSG00000270720 HERC6 HERC5 GC04M088454
GH04H088340 0.9 Ensembl ENCODE 11.8 -37.1 -37081 2 ZNF362 FOXA2 JUN FOXA1 JUND PRDM6 IKZF1 SCRT2 FOSL2 FOS LOC105369192 HERC6 PPM1K ENSG00000207480 GC04M088332 LOC105377326
GH04H088378 1 ENCODE 6 +0.7 703 1 ARID4B SIN3A ZNF2 ZBTB7B YY1 GLIS2 ZNF143 RUNX3 REST KAT8 HERC6 GC04M088341
GH04H088621 1.1 Ensembl ENCODE dbSUPER 4.5 +244.7 244695 2 JUN CEBPB CEBPG EP300 JUND STAT3 FOS CHD2 HERC6 GC04M088591 RNU6-33P GC04M088685
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HERC6 on UCSC Golden Path with GeneCards custom track

Promoters for HERC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000170575 566 1399 ARID4B SIN3A ZNF2 YY1 GLIS2 ZNF143 RUNX3 REST KAT8 ZNF610

Genomic Location for HERC6 Gene

Chromosome:
4
Start:
88,378,535 bp from pter
End:
88,443,111 bp from pter
Size:
64,577 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 StructureGene Density

RefSeq DNA sequence for HERC6 Gene

Proteins for HERC6 Gene

  • 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};

    Alternative splice isoforms for HERC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HERC6 Gene

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

Domains & Families for HERC6 Gene

Gene Families for HERC6 Gene

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

Protein Domains for HERC6 Gene

Suggested Antigen Peptide Sequences for HERC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for HERC6 Gene

Molecular function for HERC6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
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.

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 TAS --
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
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:

Animal Model Products

CRISPR Products

miRNA for HERC6 Gene

miRTarBase miRNAs that target HERC6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HERC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HERC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IBA --
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:0002244 hematopoietic progenitor cell differentiation IEA --
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

No Compound Related Data Available

Transcripts for HERC6 Gene

Unigene Clusters for HERC6 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HERC6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
HERC6

Expression for HERC6 Gene

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



Protein tissue co-expression partners for HERC6 Gene

NURSA nuclear receptor signaling pathways regulating expression of HERC6 Gene:

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(4.3)
  • Blood(4.2)
  • Heart(4.2)
  • Lymph node(4.1)
genes like me logo Genes that share expression patterns with HERC6: view

Primer Products

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 33 34
  • 98.73 (n)
cow
(Bos Taurus)
Mammalia HERC6 33 34
  • 82.96 (n)
dog
(Canis familiaris)
Mammalia HERC6 33 34
  • 82.94 (n)
mouse
(Mus musculus)
Mammalia Herc6 33 16 34
  • 77.25 (n)
rat
(Rattus norvegicus)
Mammalia Herc6 33
  • 76.38 (n)
oppossum
(Monodelphis domestica)
Mammalia HERC6 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HERC6 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia herc6 33
  • 56.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6678 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K11D2.1 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToMany
Species where no ortholog for HERC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HERC6 Gene

Paralogs for HERC6 Gene

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

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

Variants for HERC6 Gene

Sequence variations from dbSNP and Humsavar for HERC6 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000068831 -- 88,386,052(+) GTCCA(C/T)CCTCA intron-variant
rs1000074283 -- 88,430,946(+) AGCAG(C/T)GTAAA intron-variant
rs1000097218 -- 88,392,467(+) TTACA(A/G)GTGTG intron-variant
rs1000144060 -- 88,379,444(+) GAAAC(C/G/T)GAGAG intron-variant
rs1000228599 -- 88,382,493(+) GAGAT(C/T)CCAAC intron-variant

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)

Relevant External Links for HERC6 Gene

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

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: HGMD and DISEASES

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

Relevant External Links for HERC6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HERC6
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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. System-Wide Modulation of HECT E3 Ligases with Selective Ubiquitin Variant Probes. (PMID: 26949039) Zhang W … Sidhu SS (Molecular cell 2016) 3 60

Products for HERC6 Gene

Sources for HERC6 Gene

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