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Aliases for HACE1 Gene

Aliases for HACE1 Gene

  • HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1 2 3 5
  • HECT Domain And Ankyrin Repeat-Containing E3 Ubiquitin-Protein Ligase 1 4
  • EC 6.3.2.- 4
  • KIAA1320 4
  • EC 6.3.2 63
  • SPPRS 3

External Ids for HACE1 Gene

Previous GeneCards Identifiers for HACE1 Gene

  • GC06M105176
  • GC06M105221
  • GC06M105282
  • GC06M102619

Summaries for HACE1 Gene

Entrez Gene Summary for HACE1 Gene

  • This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

GeneCards Summary for HACE1 Gene

HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with HACE1 include neuroblastoma. Among its related pathways are SMAD Signaling Network and Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include ligase activity and Rab GTPase binding. An important paralog of this gene is AREL1.

UniProtKB/Swiss-Prot for HACE1 Gene

  • E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HACE1 Gene

Genomics for HACE1 Gene

Regulatory Elements for HACE1 Gene

Enhancers for HACE1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HACE1 on UCSC Golden Path with GeneCards custom track

Promoters for HACE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HACE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HACE1 Gene

Chromosome:
6
Start:
104,682,659 bp from pter
End:
104,859,919 bp from pter
Size:
177,261 bases
Orientation:
Minus strand

Genomic View for HACE1 Gene

Genes around HACE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HACE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HACE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HACE1 Gene

Proteins for HACE1 Gene

  • Protein details for HACE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYU2-HACE1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase HACE1
    Protein Accession:
    Q8IYU2
    Secondary Accessions:
    • A8K6U5
    • B3KY89
    • B4DFM6
    • B4DTQ4
    • B7Z9X6
    • E9PGP0
    • Q5VU99
    • Q5VUA0
    • Q8ND12
    • Q9P2M6

    Protein attributes for HACE1 Gene

    Size:
    909 amino acids
    Molecular mass:
    102342 Da
    Quaternary structure:
    • Interacts with RARB (By similarity). Interacts with RAB1 (RAB1A, RAB1B or RAB1C), RAB4 (RAB4A or RAB4B) and RAB11 (RAB11A or RAB11B); in a GTP-dependent manner. Interacts with RAC1; in a GTP-dependent manner. Interacts with the 26S proteasomal complex through the 20S core proteasomal subunit.
    SequenceCaution:
    • Sequence=BAA92558.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG57487.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG62066.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH14462.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH71890.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH74024.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16815.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for HACE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HACE1 Gene

Proteomics data for HACE1 Gene at MOPED

Selected DME Specific Peptides for HACE1 Gene

Post-translational modifications for HACE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HACE1

Domains & Families for HACE1 Gene

Gene Families for HACE1 Gene

Suggested Antigen Peptide Sequences for HACE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IYU2

UniProtKB/Swiss-Prot:

HACE1_HUMAN :
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 6 ANK repeats.
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with HACE1: view

Function for HACE1 Gene

Molecular function for HACE1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.
UniProtKB/Swiss-Prot Induction:
Down-regulated in sporadic Wilms tumor.

Enzyme Numbers (IUBMB) for HACE1 Gene

Gene Ontology (GO) - Molecular Function for HACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016874 ligase activity IEA --
GO:0048365 Rac GTPase binding IPI 22036506
genes like me logo Genes that share ontologies with HACE1: view
genes like me logo Genes that share phenotypes with HACE1: view

Human Phenotype Ontology for HACE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HACE1 Gene

MGI Knock Outs for HACE1:

Animal Model Products

miRNA for HACE1 Gene

miRTarBase miRNAs that target HACE1

No data available for Transcription Factor Targets and HOMER Transcription for HACE1 Gene

Localization for HACE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HACE1 Gene

Golgi apparatus, Golgi stack membrane. Cytoplasm. Endoplasmic reticulum. Note=A significant portion localizes to the endoplasmic reticulum. Targeted to Golgi membrane via its interaction with Rab proteins.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HACE1 Gene COMPARTMENTS Subcellular localization image for HACE1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for HACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 21988917
genes like me logo Genes that share ontologies with HACE1: view

Pathways & Interactions for HACE1 Gene

genes like me logo Genes that share pathways with HACE1: view

UniProtKB/Swiss-Prot Q8IYU2-HACE1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IDA 21988917
GO:0016567 protein ubiquitination IEA,IDA 21988917
GO:0016601 Rac protein signal transduction TAS 22036506
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 22036506
GO:0061025 membrane fusion IMP 21988917
genes like me logo Genes that share ontologies with HACE1: view

No data available for SIGNOR curated interactions for HACE1 Gene

Drugs & Compounds for HACE1 Gene

No Compound Related Data Available

Transcripts for HACE1 Gene

Unigene Clusters for HACE1 Gene

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HACE1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: - -
SP2: - - - - - - -
SP3: -
SP4:

ExUns: 24a · 24b · 24c
SP1:
SP2:
SP3:
SP4:

Relevant External Links for HACE1 Gene

GeneLoc Exon Structure for
HACE1
ECgene alternative splicing isoforms for
HACE1

Expression for HACE1 Gene

mRNA expression in normal human tissues for HACE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HACE1 Gene

This gene is overexpressed in Bone marrow stromal cell (18.9) and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HACE1 Gene



SOURCE GeneReport for Unigene cluster for HACE1 Gene Hs.434340

mRNA Expression by UniProt/SwissProt for HACE1 Gene

Q8IYU2-HACE1_HUMAN
Tissue specificity: Expressed in multiple tissues including heart, brain and kidney.
genes like me logo Genes that share expression patterns with HACE1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for HACE1 Gene

Orthologs for HACE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HACE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HACE1 35
  • 95.09 (n)
  • 98.46 (a)
HACE1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HACE1 35
  • 95.2 (n)
  • 98.35 (a)
HACE1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hace1 35
  • 90.98 (n)
  • 97.14 (a)
Hace1 16
Hace1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HACE1 35
  • 99.82 (n)
  • 99.89 (a)
HACE1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hace1 35
  • 88.6 (n)
  • 96.92 (a)
oppossum
(Monodelphis domestica)
Mammalia HACE1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
chicken
(Gallus gallus)
Aves HACE1 35
  • 84.75 (n)
  • 94.94 (a)
HACE1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HACE1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hace1 35
  • 80.27 (n)
  • 91.09 (a)
Str.20391 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.22891 35
zebrafish
(Danio rerio)
Actinopterygii hace1 35
  • 74.05 (n)
  • 88.03 (a)
hace1 36
  • 85 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM1 36
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for HACE1:
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 HACE1 Gene

ENSEMBL:
Gene Tree for HACE1 (if available)
TreeFam:
Gene Tree for HACE1 (if available)

Paralogs for HACE1 Gene

Paralogs for HACE1 Gene

genes like me logo Genes that share paralogs with HACE1: view

Variants for HACE1 Gene

Sequence variations from dbSNP and Humsavar for HACE1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs17853353 - 104,859,593(+) GCGCG(C/T)GGCGC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs17857038 - 104,785,273(+) TGGCT(A/G)TTAAA nc-transcript-variant, reference, missense
rs1014287 -- 104,697,079(-) AGAAA(C/T)CGCCG intron-variant
rs1014288 -- 104,697,074(-) TCGCC(A/G)GCAAA intron-variant
rs1014289 -- 104,697,061(-) CAGCT(C/T)TGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HACE1 Gene

Variant ID Type Subtype PubMed ID
nsv886522 CNV Loss 21882294
nsv886523 CNV Loss 21882294
nsv5420 CNV Loss 18451855
nsv886524 CNV Loss 21882294
dgv6971n71 CNV Loss 21882294
nsv464020 CNV Loss 19166990
esv2463529 CNV Deletion 19546169
dgv2000e1 CNV Complex 17122850
nsv886528 CNV Loss 21882294
esv2518204 CNV Deletion 19546169
esv1963512 CNV Deletion 18987734
esv2732530 CNV Deletion 23290073
nsv5422 CNV Loss 18451855
nsv5423 CNV Insertion 18451855
nsv823812 CNV Gain 20364138
nsv511348 CNV Loss 21212237
nsv7949 CNV Loss 18304495
nsv511909 CNV Loss 21212237
esv27932 CNV Loss 19812545
esv2732531 CNV Deletion 23290073
esv2664784 CNV Deletion 23128226
nsv499549 CNV Loss 21111241
nsv514383 CNV Loss 21397061

Variation tolerance for HACE1 Gene

Residual Variation Intolerance Score: 5.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HACE1 Gene

HapMap Linkage Disequilibrium report
HACE1
Human Gene Mutation Database (HGMD)
HACE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HACE1 Gene

Disorders for HACE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HACE1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search HACE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HACE1_HUMAN
  • Note=Defects in HACE1 are a cause of Wilms tumor (WT). WT is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor. Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral, young-onset Wilms tumor (PubMed:19948536). {ECO:0000269 PubMed:17694067, ECO:0000269 PubMed:19948536}.

Relevant External Links for HACE1

Genetic Association Database (GAD)
HACE1
Human Genome Epidemiology (HuGE) Navigator
HACE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HACE1
genes like me logo Genes that share disorders with HACE1: view

No data available for Genatlas for HACE1 Gene

Publications for HACE1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 67
  2. HACE1: A novel repressor of RAR transcriptional activity. (PMID: 19350571) Zhao J. … Soprano D.R. (J. Cell. Biochem. 2009) 3 23
  3. Differential expression of a novel ankyrin containing E3 ubiquitin- protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney. (PMID: 15254018) Anglesio M.S. … Sorensen P.H.B. (Hum. Mol. Genet. 2004) 3 23
  4. Loss of the E3 ubiquitin ligase HACE1 results in enhanced Rac1 signaling contributing to breast cancer progression. (PMID: 25659579) Goka E.T. … Lippman M.E. (Oncogene 2015) 3
  5. Lack of evidence that HACE1 is not a tumor suppressor gene in NKTCL: to the editor-in-chief. (PMID: 25794710) KA1AsA1k C. … Chan W.C. (Am. J. Pathol. 2015) 3

Products for HACE1 Gene

Sources for HACE1 Gene

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