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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
  • P532 3 4
  • P619 3 4
  • Guanine Nucleotide Exchange Factor P532 3
  • EC 6.3.2.- 4
  • EC 6.3.2 63

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 gestational choriocarcinoma. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. 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

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

Genomics for HERC1 Gene

Regulatory Elements for HERC1 Gene

Promoters for HERC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HERC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HERC1 Gene

Chromosome:
15
Start:
63,608,618 bp from pter
End:
63,833,949 bp from pter
Size:
225,332 bases
Orientation:
Minus strand

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

Proteomics data for HERC1 Gene at MOPED

Selected DME Specific Peptides for HERC1 Gene

Post-translational modifications for HERC1 Gene

  • Ubiquitination at Lys 2769, Lys 2881, Lys 3311, Lys 3460, Lys 4462, and Lys 4468
  • Modification sites at PhosphoSitePlus

Domains & Families for HERC1 Gene

Gene Families for HERC1 Gene

Suggested Antigen Peptide Sequences for HERC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15751

UniProtKB/Swiss-Prot:

HERC1_HUMAN :
  • Contains 1 B30.2/SPRY domain.
  • Contains 14 RCC1 repeats.
Domain:
  • Contains 1 B30.2/SPRY domain.
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Similarity:
  • Contains 14 RCC1 repeats.
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with HERC1: view

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 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

Gene Ontology (GO) - Molecular Function for HERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity TAS 8861955
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with HERC1: view
genes like me logo Genes that share phenotypes with HERC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , 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
Jensen Localization Image for HERC1 Gene COMPARTMENTS Subcellular localization image for HERC1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 2
plasma membrane 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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:0016567 protein ubiquitination IEA --
GO:0050885 neuromuscular process controlling balance 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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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:

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 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



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.
genes like me logo Genes that share expression patterns with HERC1: view

Protein tissue co-expression partners for HERC1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
dog
(Canis familiaris)
Mammalia HERC1 35
  • 94.19 (n)
  • 98.25 (a)
HERC1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Herc1 35
  • 91.71 (n)
  • 97.32 (a)
Herc1 16
Herc1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HERC1 35
  • 99.63 (n)
  • 99.73 (a)
HERC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Herc1 35
  • 91.43 (n)
  • 97.16 (a)
cow
(Bos Taurus)
Mammalia HERC1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HERC1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HERC1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves HERC1 35
  • 82 (n)
  • 93.06 (a)
HERC1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HERC1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia herc1 35
  • 74.82 (n)
  • 85.95 (a)
Str.16459 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9584 35
zebrafish
(Danio rerio)
Actinopterygii LOC569603 35
  • 71.68 (n)
  • 81.81 (a)
HERC1 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HERC2 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for HERC1:
  • 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 Sequence Context AA Info Type
rs1063423 - 63,727,729(-) GACTT(C/G)TTGCC nc-transcript-variant, reference, missense
rs3764187 - 63,718,808(-) ATTTA(C/T)TTAGT nc-transcript-variant, reference, missense
rs36089909 - 63,713,584(+) GAGCC(A/C)CAGAC nc-transcript-variant, reference, missense
rs7162519 - 63,713,477(+) CCGAT(G/T)GATCA nc-transcript-variant, reference, missense
rs16947363 - 63,698,919(+) GGAGG(A/C)GTTGC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833034 CNV Loss 17160897
nsv833035 CNV Gain 17160897
nsv1565 CNV Loss 18451855

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)

Relevant External Links for HERC1 Gene

HapMap Linkage Disequilibrium report
HERC1
Human Gene Mutation Database (HGMD)
HERC1

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

Disorders for HERC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HERC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gestational choriocarcinoma
  • gestational chorionepithelioma
- elite association - COSMIC cancer census association via MalaCards
Search HERC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HERC1

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

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

Publications for HERC1 Gene

  1. p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins. (PMID: 8861955) Rosa J.L. … Barbacid M. (EMBO J. 1996) 2 3 4 23 67
  2. 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 J.L. … Barbacid M. (Oncogene 1997) 2 3 23
  3. The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells. (PMID: 14960311) Garcia-Gonzalo F.R. … Rosa J.L. (FEBS Lett. 2004) 3 23
  4. Interaction between HERC1 and M2-type pyruvate kinase. (PMID: 12650930) Garcia-Gonzalo F.R. … Rosa J.L. (FEBS Lett. 2003) 3 23
  5. Assignment of the human P532 gene (HERC1) to chromosome 15q22 by fluorescence in situ hybridization. (PMID: 10516438) Cruz C. … Rosa J.L. (Cytogenet. Cell Genet. 1999) 3 23

Products for HERC1 Gene

Sources for HERC1 Gene

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