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Aliases for HERC1 Gene

Aliases for HERC1 Gene

  • HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1 2 3 5
  • Hect (Homologous To The E6-AP (UBE3A) Carboxyl Terminus) Domain And RCC1 (CHC1)-Like Domain (RLD) 1 2 3
  • HECT Domain And RCC1-Like Domain-Containing Protein 1 3 4
  • HECT-Type E3 Ubiquitin Transferase HERC1 3 4
  • P532 3 4
  • P619 3 4
  • Probable E3 Ubiquitin-Protein Ligase HERC1 3
  • Guanine Nucleotide Exchange Factor P532 3
  • EC 2.3.2.26 4
  • EC 6.3.2 56
  • MDFPMR 3

External Ids for HERC1 Gene

Previous GeneCards Identifiers for HERC1 Gene

  • GC15M059686
  • GC15M057058
  • GC15M061479
  • GC15M061616
  • GC15M061687
  • GC15M063900
  • GC15M040725

Summaries for HERC1 Gene

Entrez Gene Summary for HERC1 Gene

  • This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

GeneCards Summary for HERC1 Gene

HERC1 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1) is a Protein Coding gene. Diseases associated with HERC1 include Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation and Chromosome 1Q41-Q42 Deletion Syndrome. 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 binding and ubiquitin-protein transferase activity. An important paralog of this gene is HERC2.

UniProtKB/Swiss-Prot for HERC1 Gene

  • Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a 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.

Gene Wiki entry for HERC1 Gene

Additional gene information for HERC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HERC1 Gene

Genomics for HERC1 Gene

GeneHancer (GH) Regulatory Elements for HERC1 Gene

Promoters and enhancers for HERC1 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
GH15I063831 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556.2 +0.4 377 3.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 HERC1 USP3-AS1 TRIP4 ENSG00000264937 CSNK1G1 ZNF609 ENSG00000259635 USP3 ENSG00000265967 FBXL22
GH15I063891 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.4 -60.6 -60556 6.8 HDGF PKNOX1 CLOCK FOXA2 ARNT NEUROD1 SIN3A ZNF2 IRF4 POLR2B DAPK2 HERC1 USP3 TRIP4 MIR422A SNX1 TPM1-AS USP3-AS1 RPS27L ENSG00000275785
GH15I063478 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.3 +353.9 353910 4 PKNOX1 ATF1 FOXA2 SMAD1 FEZF1 ZNF766 ZNF207 ZNF143 FOS ATF7 USP3 LACTB HERC1 FBXL22 ENSG00000259268 CA12 SNX1 RAB8B TPM1 GC15P069438
GH15I063841 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14 -8.8 -8755 3.3 HDGF ATF1 SMAD1 ARNT ZNF766 ATF7 NCOA1 ZNF592 MEF2D SMARCA4 HERC1 MIR422A CSNK1G1 DAPK2 USP3-AS1 USP3 GC15M063862
GH15I063805 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.1 +27.4 27370 1.8 HDAC1 PKNOX1 E4F1 ZNF121 ZNF316 NFE2 SMARCE1 AFF1 SOX6 L3MBTL2 HERC1 DAPK2 USP3-AS1 LOC101928988 ENSG00000259589
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HERC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HERC1 gene promoter:

Genomic Locations for HERC1 Gene

Genomic Locations for HERC1 Gene
chr15:63,608,618-63,833,949
(GRCh38/hg38)
Size:
225,332 bases
Orientation:
Minus strand
chr15:63,900,817-64,126,147
(GRCh37/hg19)

Genomic View for HERC1 Gene

Genes around HERC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HERC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HERC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HERC1 Gene

Proteins for HERC1 Gene

  • Protein details for HERC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15751-HERC1_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase HERC1
    Protein Accession:
    Q15751
    Secondary Accessions:
    • Q8IW65

    Protein attributes for HERC1 Gene

    Size:
    4861 amino acids
    Molecular mass:
    532228 Da
    Quaternary structure:
    • Interacts with TSC2; interaction is inhibited by TSC1. Interacts with PKM, ARF1 and ARF6. Forms a ternary complex with clathrin heavy chain (CLTC) and HSPA1A.

    Three dimensional structures from OCA and Proteopedia for HERC1 Gene

neXtProt entry for HERC1 Gene

Selected DME Specific Peptides for HERC1 Gene

Q15751:
  • GQVYAWG
  • GDGDYGKLG
  • GELYTWG

Post-translational modifications for HERC1 Gene

  • Ubiquitination at posLast=27692769, isoforms=2881, isoforms=3311, posLast=34603460, isoforms=4462, and isoforms=4468

Domains & Families for HERC1 Gene

Gene Families for HERC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HERC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HERC1: view

No data available for UniProtKB/Swiss-Prot for HERC1 Gene

Function for HERC1 Gene

Molecular function for HERC1 Gene

GENATLAS Biochemistry:
HECT (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD)1,ubiquitously expressed,located in the cytosol in the Golgi apparatus,stimulating guanine nucleotide,forming a cytosolic ternary complex with clathrin and Hsp70,involved in protein trafficking
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:
Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a 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 HERC1 Gene

Phenotypes From GWAS Catalog for HERC1 Gene

Gene Ontology (GO) - Molecular Function for HERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005086 ARF guanyl-nucleotide exchange factor activity TAS 8861955
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HERC1: view
genes like me logo Genes that share phenotypes with HERC1: view

Human Phenotype Ontology for HERC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

  • Addgene plasmids for HERC1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HERC1 Gene

Localization for HERC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HERC1 Gene

Membrane; Peripheral membrane protein. Cytoplasm, cytosol. Golgi apparatus. Note=Recruited onto actin-rich surface protrusions.

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 HERC1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for HERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 8861955
GO:0005794 Golgi apparatus TAS,IEA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HERC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HERC1 Gene

Pathways & Interactions for HERC1 Gene

genes like me logo Genes that share pathways with HERC1: view

UniProtKB/Swiss-Prot Q15751-HERC1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0010507 negative regulation of autophagy IEA --
GO:0016567 protein ubiquitination IEA --
GO:0021702 cerebellar Purkinje cell differentiation IEA --
GO:0031175 neuron projection development IEA --
genes like me logo Genes that share ontologies with HERC1: view

No data available for SIGNOR curated interactions for HERC1 Gene

Drugs & Compounds for HERC1 Gene

(6) Drugs for HERC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for HERC1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with HERC1: view

Transcripts for HERC1 Gene

Unigene Clusters for HERC1 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for HERC1

Alternative Splicing Database (ASD) splice patterns (SP) for HERC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: - -
SP9: - -
SP10:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for HERC1 Gene

GeneLoc Exon Structure for
HERC1
ECgene alternative splicing isoforms for
HERC1

Expression for HERC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HERC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HERC1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (51.4) and Cervix (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HERC1 Gene



Protein tissue co-expression partners for HERC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HERC1 Gene:

HERC1

SOURCE GeneReport for Unigene cluster for HERC1 Gene:

Hs.210385

mRNA Expression by UniProt/SwissProt for HERC1 Gene:

Q15751-HERC1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for HERC1 Gene

  • Liver(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with HERC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HERC1 Gene

Orthologs for HERC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HERC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HERC1 33 34
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia HERC1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HERC1 33 34
  • 94.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HERC1 34
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HERC1 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Herc1 33 16 34
  • 91.71 (n)
rat
(Rattus norvegicus)
Mammalia Herc1 33
  • 91.43 (n)
chicken
(Gallus gallus)
Aves HERC1 33 34
  • 82 (n)
lizard
(Anolis carolinensis)
Reptilia HERC1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia herc1 33
  • 74.82 (n)
Str.16459 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9584 33
zebrafish
(Danio rerio)
Actinopterygii HERC1 34
  • 81 (a)
OneToOne
LOC569603 33
  • 71.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta HERC2 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
OneToOne
Species where no ortholog for HERC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 (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)
  • worm (Caenorhabditis elegans)

Evolution for HERC1 Gene

ENSEMBL:
Gene Tree for HERC1 (if available)
TreeFam:
Gene Tree for HERC1 (if available)

Paralogs for HERC1 Gene

Paralogs for HERC1 Gene

genes like me logo Genes that share paralogs with HERC1: view

Variants for HERC1 Gene

Sequence variations from dbSNP and Humsavar for HERC1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs753780877 pathogenic, Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability, Macrocephaly, dysmorphic facies, and psychomotor retardation 63,656,210(-) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, stop_gained
rs769677823 pathogenic, Macrocephaly, dysmorphic facies, and psychomotor retardation, Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) [MIM:617011] 63,623,777(-) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs797045141 likely-pathogenic, pathogenic, Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability, Macrocephaly, dysmorphic facies, and psychomotor retardation 63,696,341(-) T/G splice_acceptor_variant
rs879253786 pathogenic, Macrocephaly, dysmorphic facies, and psychomotor retardation 63,734,745(-) C/T coding_sequence_variant, stop_gained
rs1064794786 likely-pathogenic, not provided 63,718,575(-) C/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for HERC1 Gene

Variant ID Type Subtype PubMed ID
nsv1047695 CNV loss 25217958
nsv1127440 CNV deletion 24896259
nsv1565 CNV deletion 18451855
nsv472089 CNV novel sequence insertion 20440878
nsv833034 CNV loss 17160897
nsv833035 CNV gain 17160897
nsv958028 CNV deletion 24416366

Variation tolerance for HERC1 Gene

Residual Variation Intolerance Score: 0.0542% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.90; 93.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HERC1 Gene

Human Gene Mutation Database (HGMD)
HERC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HERC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HERC1 Gene

Disorders for HERC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HERC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macrocephaly, dysmorphic facies, and psychomotor retardation
  • mdfpmr
chromosome 1q41-q42 deletion syndrome
  • holoprosencephaly 10, included; hpe10, included
gestational choriocarcinoma
  • gestational chorionepithelioma
syndromic intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search HERC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HERC1_HUMAN
  • Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) [MIM:617011]: An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients. {ECO:0000269 PubMed:26138117}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HERC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HERC1: view

No data available for Genatlas for HERC1 Gene

Publications for HERC1 Gene

  1. A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70. (PMID: 9233772) Rosa JL … Barbacid M (Oncogene 1997) 2 3 4 22 58
  2. p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins. (PMID: 8861955) Rosa JL … Barbacid M (The EMBO journal 1996) 2 3 4 22 58
  3. The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells. (PMID: 14960311) Garcia-Gonzalo FR … Rosa JL (FEBS letters 2004) 3 4 22 58
  4. Interaction between HERC1 and M2-type pyruvate kinase. (PMID: 12650930) Garcia-Gonzalo FR … Rosa JL (FEBS letters 2003) 3 4 22 58
  5. Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability. (PMID: 26138117) Ortega-Recalde O … Laissue P (Clinical genetics 2015) 3 4 58

Products for HERC1 Gene

Sources for HERC1 Gene

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