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Aliases for HERC4 Gene

Aliases for HERC4 Gene

  • HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 4 2 3 5
  • HECT Domain And RCC1-Like Domain-Containing Protein 4 4
  • HECT-Type E3 Ubiquitin Transferase HERC4 4
  • Hect Domain And RLD 4 2
  • EC 2.3.2.26 4
  • KIAA1593 4
  • EC 6.3.2 61

External Ids for HERC4 Gene

Previous GeneCards Identifiers for HERC4 Gene

  • GC10M069027
  • GC10M069351
  • GC10M069681
  • GC10M063681

Summaries for HERC4 Gene

Entrez Gene Summary for HERC4 Gene

  • 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 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 HERC4 Gene

HERC4 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 4) is a Protein Coding gene. Diseases associated with HERC4 include Breast Benign Neoplasm and Thoracic Benign Neoplasm. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. 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 for HERC4 Gene

  • 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 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HERC4 Gene

Genomics for HERC4 Gene

Regulatory Elements for HERC4 Gene

Enhancers for HERC4 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
GH10F068052 0.9 Ensembl 15.9 +22.5 22548 1.2 ZFHX2 HLF ZNF341 KLF9 CEBPB ZBTB40 EGR2 SIRT1 HERC4 POU5F1P5
GH10F068018 0.5 FANTOM5 11.6 +56.5 56516 0.2 HERC4 SIRT1 POU5F1P5
GH10F068102 0.9 Ensembl ENCODE 11.4 -32.1 -32139 9.2 TBP INSM2 SIN3A FEZF1 RAD21 ZBTB40 ZEB1 RFX5 GTF3C2 ZNF121 CCAR1 DDX50 MYPN HERC4 MIR1254-1 RPL12P8 DDX21 ATOH7 RN7SKP202
GH10F068096 0.8 Ensembl ENCODE 11.1 -22.4 -22395 2.3 ATF1 PKNOX1 SIN3A GATA2 FOS KDM4B JUNB MAFF PBX2 HMBOX1 HERC4 ATOH7 ENSG00000233590 HNRNPH3 PBLD MYPN SIRT1 PIR62804
GH10F068099 0.5 ENCODE 11.1 -24.7 -24747 1.7 PRDM10 ATOH7 HERC4 ENSG00000233590 MYPN PIR62804
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HERC4 on UCSC Golden Path with GeneCards custom track

Promoters for HERC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001424325 1448 3801 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for HERC4 Gene

Chromosome:
10
Start:
67,921,899 bp from pter
End:
68,075,348 bp from pter
Size:
153,450 bases
Orientation:
Minus strand

Genomic View for HERC4 Gene

Genes around HERC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HERC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HERC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HERC4 Gene

Proteins for HERC4 Gene

  • Protein details for HERC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5GLZ8-HERC4_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase HERC4
    Protein Accession:
    Q5GLZ8
    Secondary Accessions:
    • Q5GC98
    • Q5GC99
    • Q5GCA0
    • Q8IXP9
    • Q9HCH9

    Protein attributes for HERC4 Gene

    Size:
    1057 amino acids
    Molecular mass:
    118563 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB13419.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for HERC4 Gene

neXtProt entry for HERC4 Gene

Post-translational modifications for HERC4 Gene

  • Ubiquitination at Lys 132, Lys 365, Lys 469, Lys 488, Lys 493, and Lys 890
  • Modification sites at PhosphoSitePlus

Domains & Families for HERC4 Gene

Suggested Antigen Peptide Sequences for HERC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q5GLZ8

UniProtKB/Swiss-Prot:

HERC4_HUMAN :
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 7 RCC1 repeats.
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Similarity:
  • Contains 7 RCC1 repeats.
genes like me logo Genes that share domains with HERC4: view

No data available for Gene Families for HERC4 Gene

Function for HERC4 Gene

Molecular function for HERC4 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:
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 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates.

Enzyme Numbers (IUBMB) for HERC4 Gene

Gene Ontology (GO) - Molecular Function for HERC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA --
GO:0016740 transferase activity IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with HERC4: view
genes like me logo Genes that share phenotypes with HERC4: view

Animal Models for HERC4 Gene

MGI Knock Outs for HERC4:

Animal Model Products

miRNA for HERC4 Gene

miRTarBase miRNAs that target HERC4

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HERC4 Gene

Localization for HERC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HERC4 Gene

Cytoplasm, cytosol. Note=shows a punctate cytoplasmic distribution.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HERC4 Gene COMPARTMENTS Subcellular localization image for HERC4 gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for HERC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with HERC4: view

Pathways & Interactions for HERC4 Gene

genes like me logo Genes that share pathways with HERC4: view

UniProtKB/Swiss-Prot Q5GLZ8-HERC4_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HERC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis ISS 17967448
GO:0016567 protein ubiquitination IEA --
GO:0030154 cell differentiation IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with HERC4: view

No data available for SIGNOR curated interactions for HERC4 Gene

Transcripts for HERC4 Gene

Unigene Clusters for HERC4 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HERC4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - - - - - - -
SP2: - - - - - - - - - - -
SP3: -
SP4: - - - - -
SP5:
SP6: - - -
SP7: - - - -
SP8:
SP9: -
SP10:

ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for HERC4 Gene

GeneLoc Exon Structure for
HERC4
ECgene alternative splicing isoforms for
HERC4

Expression for HERC4 Gene

mRNA expression in normal human tissues for HERC4 Gene

Protein differential expression in normal tissues from HIPED for HERC4 Gene

This gene is overexpressed in Heart (15.6) and Lymph node (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HERC4 Gene



Protein tissue co-expression partners for HERC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HERC4 Gene:

HERC4

SOURCE GeneReport for Unigene cluster for HERC4 Gene:

Hs.51891

mRNA Expression by UniProt/SwissProt for HERC4 Gene:

Q5GLZ8-HERC4_HUMAN
Tissue specificity: Expressed in brain and testis and detected in heart and placenta.
genes like me logo Genes that share expression patterns with HERC4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HERC4 Gene

Orthologs for HERC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HERC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HERC4 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia HERC4 34 35
  • 95.65 (n)
cow
(Bos Taurus)
Mammalia HERC4 34 35
  • 94.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HERC4 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Herc4 34
  • 91.86 (n)
mouse
(Mus musculus)
Mammalia Herc4 34 16 35
  • 91.64 (n)
oppossum
(Monodelphis domestica)
Mammalia HERC4 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves gga-mir-1772 35
  • 88 (a)
OneToOne
HERC4 34
  • 81.98 (n)
lizard
(Anolis carolinensis)
Reptilia HERC4 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia herc4 34
  • 74.32 (n)
Str.10009 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3006 34
zebrafish
(Danio rerio)
Actinopterygii HERC4 35
  • 74 (a)
OneToOne
herc4 34
  • 68.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9153 34 35
  • 50.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006994 34
  • 49.87 (n)
worm
(Caenorhabditis elegans)
Secernentea herc-1 35
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL4 35
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UVR8 34
  • 47.92 (n)
rice
(Oryza sativa)
Liliopsida Os04g0435700 34
  • 46.73 (n)
Species where no ortholog for HERC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HERC4 Gene

ENSEMBL:
Gene Tree for HERC4 (if available)
TreeFam:
Gene Tree for HERC4 (if available)

Paralogs for HERC4 Gene

Paralogs for HERC4 Gene

(13) SIMAP similar genes for HERC4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with HERC4: view

Variants for HERC4 Gene

Sequence variations from dbSNP and Humsavar for HERC4 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10047296 -- 67,952,369(+) acctc(C/T)gtcta intron-variant
rs10430469 -- 67,966,940(+) AGCTC(C/T)GCCTC intron-variant
rs10430470 -- 67,966,941(+) GCTCT(A/G)CCTCC intron-variant
rs10509292 -- 67,966,330(+) TTAGG(A/C)GTTCC intron-variant, downstream-variant-500B
rs10509293 -- 68,046,029(+) ATGAA(A/G)TTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HERC4 Gene

Variant ID Type Subtype PubMed ID
esv2676451 CNV deletion 23128226
esv3546449 CNV deletion 23714750
esv3623696 CNV loss 21293372
esv3623697 CNV gain 21293372
esv3623698 CNV gain 21293372
esv3623699 CNV loss 21293372
esv3623700 CNV loss 21293372
nsv551433 CNV loss 21841781
nsv6977 CNV insertion 18451855
nsv948045 CNV duplication 23825009
nsv948046 CNV duplication 23825009
nsv958575 CNV deletion 24416366

Variation tolerance for HERC4 Gene

Residual Variation Intolerance Score: 8.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HERC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HERC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HERC4 Gene

Disorders for HERC4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HERC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
breast benign neoplasm
thoracic benign neoplasm
  • benign neoplasm of thorax
- elite association - COSMIC cancer census association via MalaCards
Search HERC4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HERC4

Genetic Association Database (GAD)
HERC4
Human Genome Epidemiology (HuGE) Navigator
HERC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HERC4
genes like me logo Genes that share disorders with HERC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HERC4 Gene

Publications for HERC4 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  4. 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 64
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64

Products for HERC4 Gene

Sources for HERC4 Gene

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