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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 58

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. Among its related pathways are Class I MHC mediated antigen processing and presentation and Ubiquitin mediated proteolysis. 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.

Additional gene information for HERC4 Gene

No data available for CIViC summary , 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
GH10H068327 1.8 FANTOM5 ENCODE dbSUPER 31.8 -256.9 -256923 9 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC HNRNPH3 HERC4 DDX50 CCAR1 SIRT1 DNA2 RPL26P27 PBLD
GH10H068559 1.1 ENCODE 45.4 -486.5 -486503 4 HDGF PKNOX1 ARNT ARID4B FEZF1 DMAP1 ZNF2 SLC30A9 SP3 REST CCAR1 HERC4 DDX50 SIRT1 HNRNPH3 DNA2 ATOH7 TET1 GC10P068600
GH10H067883 1.2 ENCODE 33.7 +190.1 190092 3 HNRNPUL1 HDGF MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SIRT1 HERC4 CCAR1 HNRNPH3 RPL12P8 RPL26P27 MYPN GC10M067961
GH10H068119 0.8 dbSUPER 50.3 -44.5 -44501 1 ZBTB21 ZFP64 ZNF140 ZNF266 ZNF697 ZNF664 ZNF138 ZNF354C RBAK ZNF19 CCAR1 HNRNPH3 DDX50 SIRT1 HERC4 KIF1BP RPL26P27 RPL12P8 TET1 MYPN
GH10H068954 1.4 ENCODE dbSUPER 24.9 -881.2 -881162 3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 CCAR1 DDX50 HERC4 KIF1BP DDX21 HNRNPH3 VPS26A STOX1 GC10P068966
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000029115 1148 2801 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

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

Selected DME Specific Peptides for HERC4 Gene

Q5GLZ8:
  • GQLGHNST
  • FLLFLTGSDRIPI
  • NLLDLPKY
  • GQVYAWG
  • QVAAGGAHSF
  • GGVFTFGAG
  • EETFCLNFTI
  • YHSLALSK
  • NRQEFVDAYV
  • TIKIFWEV
  • FPLALYKKLL

Post-translational modifications for HERC4 Gene

  • Ubiquitination at isoforms=2, 3, 6132, posLast=365365, posLast=469469, isoforms=2, 3, 6488, isoforms=2, 3, 6493, and isoforms=2, 3, 6890
  • Modification sites at PhosphoSitePlus

Domains & Families for HERC4 Gene

Gene Families for HERC4 Gene

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

Suggested Antigen Peptide Sequences for HERC4 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

Phenotypes From GWAS Catalog 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 IEA --
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
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

CRISPR Products

miRNA for HERC4 Gene

miRTarBase miRNAs that target HERC4

Inhibitory RNA 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
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 HERC4 gene
Compartment Confidence
cytosol 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HERC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IDA,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 --
genes like me logo Genes that share ontologies with HERC4: view

No data available for SIGNOR curated interactions for HERC4 Gene

Drugs & Compounds for HERC4 Gene

No Compound Related Data Available

Transcripts for HERC4 Gene

Unigene Clusters for HERC4 Gene

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

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for HERC4 Gene

  • Nervous system(4.7)
  • Blood(4.1)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia HERC4 33 34
  • 95.65 (n)
cow
(Bos Taurus)
Mammalia HERC4 33 34
  • 94.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HERC4 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Herc4 33
  • 91.86 (n)
mouse
(Mus musculus)
Mammalia Herc4 33 16 34
  • 91.64 (n)
oppossum
(Monodelphis domestica)
Mammalia HERC4 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves gga-mir-1772 34
  • 88 (a)
OneToOne
HERC4 33
  • 81.98 (n)
lizard
(Anolis carolinensis)
Reptilia HERC4 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia herc4 33
  • 74.32 (n)
Str.10009 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3006 33
zebrafish
(Danio rerio)
Actinopterygii HERC4 34
  • 74 (a)
OneToOne
herc4 33
  • 68.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9153 33 34
  • 50.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006994 33
  • 49.87 (n)
worm
(Caenorhabditis elegans)
Secernentea herc-1 34
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HUL4 34
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UVR8 33
  • 47.92 (n)
rice
(Oryza sativa)
Liliopsida Os04g0435700 33
  • 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
rs1000002975 -- 68,069,441(+) AACAT(A/G)AACAT intron-variant, utr-variant-3-prime
rs1000025051 -- 68,072,236(+) ATGAA(A/G)TGTGA intron-variant
rs1000027469 -- 68,071,379(+) ACCTA(A/G)GTAAC intron-variant
rs1000046380 -- 67,948,677(+) GCACT(C/T)TGGGA intron-variant
rs1000057699 -- 68,072,003(+) CAGAA(A/G)CCACC 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

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

No disorders were found for HERC4 Gene.

No data available for MalaCards , 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 60
  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 60
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 60

Products for HERC4 Gene

Sources for HERC4 Gene

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