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Aliases for HUWE1 Gene

Aliases for HUWE1 Gene

  • HECT, UBA And WWE Domain Containing 1, E3 Ubiquitin Protein Ligase 2 3
  • LASU1 3 4 6
  • UREB1 3 4 6
  • Homologous To E6AP Carboxyl Terminus Homologous Protein 9 3 4
  • Upstream Regulatory Element-Binding Protein 1 3 4
  • Mcl-1 Ubiquitin Ligase E3 3 4
  • Large Structure Of UREB1 3 4
  • ARF-Binding Protein 1 3 4
  • URE-Binding Protein 1 3 4
  • KIAA0312 4 6
  • ARF-BP1 3 4
  • HECTH9 3 4
  • URE-B1 3 4
  • MULE 3 4
  • HECT, UBA And WWE Domain-Containing Protein 1 4
  • HECT, UBA And WWE Domain Containing 1 2
  • E3 Ubiquitin-Protein Ligase HUWE1 3
  • HECT Domain Protein LASU1 3
  • BJ-HCC-24 Tumor Antigen 3
  • EC 6.3.2.6 64
  • EC 6.3.2.- 4
  • KIAA1578 4
  • EC 6.3.2 64
  • HSPC272 3
  • Ib772 3

External Ids for HUWE1 Gene

Summaries for HUWE1 Gene

Entrez Gene Summary for HUWE1 Gene

  • This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013]

GeneCards Summary for HUWE1 Gene

HUWE1 (HECT, UBA And WWE Domain Containing 1, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with HUWE1 include mental retardation, x-linked syndromic, turner type and x-linked intellectual disability, turner type. Among its related pathways are Class I MHC mediated antigen processing and presentation and Protein Stability. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is AREL1.

UniProtKB/Swiss-Prot for HUWE1 Gene

  • E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at Lys-41, Lys-61 and Lys-81, thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation. Mediates polyubiquitination of isoform 2 of PA2G4.

Gene Wiki entry for HUWE1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HUWE1 Gene

Genomics for HUWE1 Gene

Genomic Location for HUWE1 Gene

Start:
53,532,096 bp from pter
End:
53,686,729 bp from pter
Size:
154,634 bases
Orientation:
Minus strand

Genomic View for HUWE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HUWE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HUWE1 Gene

Regulatory Elements for HUWE1 Gene

Proteins for HUWE1 Gene

  • Protein details for HUWE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6Z7-HUWE1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase HUWE1
    Protein Accession:
    Q7Z6Z7
    Secondary Accessions:
    • O15029
    • Q4G2Z2
    • Q5H961
    • Q6P4D0
    • Q8NG67
    • Q9BUI0
    • Q9HCJ4
    • Q9NSL6
    • Q9P0A9

    Protein attributes for HUWE1 Gene

    Size:
    4374 amino acids
    Molecular mass:
    481891 Da
    Quaternary structure:
    • Interacts with isoform p14ARF of CDKN2A which strongly inhibits HUWE1 ubiquitin ligase activity. Interacts with MYCN, POLB and CDC6. Interacts with isoform 2 of PA2G4.
    SequenceCaution:
    • Sequence=AAC62492.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF28950.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF28950.1; Type=Frameshift; Positions=4356; Evidence={ECO:0000305}; Sequence=BAB13404.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA, contains the C-terminal part of ATP5I.; Evidence={ECO:0000305}; Sequence=BAC06833.1; Type=Frameshift; Positions=982, 1055; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HUWE1 Gene

    Alternative splice isoforms for HUWE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HUWE1 Gene

Proteomics data for HUWE1 Gene at MOPED

Selected DME Specific Peptides for HUWE1 Gene

Post-translational modifications for HUWE1 Gene

  • Phosphorylated on tyrosine; phosphorylation is probably required for its ability to inhibit TP53 transactivation.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys173, Lys190, Lys324, Lys342, Lys632, Lys674, Lys1050, Lys1107, Lys1111, Lys1147, Lys1225, Lys1295, Lys1470, Lys1608, Lys1643, Lys1702, Lys1713, Lys1917, Lys1926, Lys1931, Lys2172, Lys2219, Lys2248, Lys2267, Lys2656, Lys2671, Lys3244, Lys3274, Lys3314, Lys3345, Lys3370, Lys3409, Lys3452, Lys3558, Lys3621, Lys3675, Lys3697, Lys3912, Lys3954, Lys4295, Lys4305, and Lys4322

Other Protein References for HUWE1 Gene

Domains for HUWE1 Gene

UniProtKB/Swiss-Prot:

HUWE1_HUMAN
Domain:
  • The HECT domain mediates inhibition of the transcriptional activity of p53:
    • Q7Z6Z7
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.:
    • Q7Z6Z7
  • Contains 1 UBA domain.:
    • Q7Z6Z7
  • Contains 1 UIM (ubiquitin-interacting motif) domain.:
    • Q7Z6Z7
  • Contains 1 WWE domain.:
    • Q7Z6Z7
Family:
  • Belongs to the UPL family. TOM1/PTR1 subfamily.:
    • Q7Z6Z7
genes like me logo Genes that share domains with HUWE1: view

No data available for Gene Families for HUWE1 Gene

Function for HUWE1 Gene

Molecular function for HUWE1 Gene

UniProtKB/Swiss-Prot Function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at Lys-41, Lys-61 and Lys-81, thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation. Mediates polyubiquitination of isoform 2 of PA2G4.

Enzyme Numbers (IUBMB) for HUWE1 Gene

Gene Ontology (GO) - Molecular Function for HUWE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding ISS --
GO:0004842 ubiquitin-protein transferase activity IDA 15989957
GO:0005488 binding --
GO:0005515 protein binding IPI 15989956
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with HUWE1: view
genes like me logo Genes that share phenotypes with HUWE1: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HUWE1 Gene

Localization for HUWE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HUWE1 Gene

Cytoplasm. Nucleus. Note=Mainly expressed in the cytoplasm of most tissues, except in the nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Predominantly cytosolic or perinuclear in some colorectal carcinoma cells. {ECO:0000250 UniProtKB:Q7TMY8}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HUWE1 Gene COMPARTMENTS Subcellular localization image for HUWE1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for HUWE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with HUWE1: view

Pathways for HUWE1 Gene

genes like me logo Genes that share pathways with HUWE1: view

Pathways by source for HUWE1 Gene

UniProtKB/Swiss-Prot Q7Z6Z7-HUWE1_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for HUWE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 15989957
GO:0006284 base-excision repair IMP 19713937
GO:0006513 protein monoubiquitination IDA 19713937
GO:0016574 histone ubiquitination IDA 15767685
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with HUWE1: view

Compounds for HUWE1 Gene

(4) HMDB Compounds for HUWE1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(3) Novoseek inferred chemical compound relationships for HUWE1 Gene

Compound -log(P) Hits PubMed IDs
auxin 26.7 1
tyrosine 0.491 3
oligonucleotide 0 2
genes like me logo Genes that share compounds with HUWE1: view

Transcripts for HUWE1 Gene

Unigene Clusters for HUWE1 Gene

HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HUWE1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
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ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36a · 36b · 36c ^ 37 ^ 38a · 38b ^ 39 ^ 40a ·
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SP20: - - - - - - - - - - - - - - - - - - - - - - - - - -
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ExUns: 40b · 40c · 40d · 40e · 40f · 40g ^ 41 ^ 42 ^ 43a · 43b ^ 44a · 44b ^ 45a · 45b ^ 46a · 46b · 46c · 46d ^ 47a · 47b · 47c ^ 48a · 48b ^ 49a · 49b · 49c ^
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SP13: - - -
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ExUns: 50a · 50b · 50c · 50d ^ 51 ^ 52a · 52b · 52c ^ 53a · 53b · 53c ^ 54 ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58a ·
SP1:
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SP4: - - - -
SP5: -
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Relevant External Links for HUWE1 Gene

GeneLoc Exon Structure for
HUWE1
ECgene alternative splicing isoforms for
HUWE1

Expression for HUWE1 Gene

mRNA expression in normal human tissues for HUWE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HUWE1 Gene

SOURCE GeneReport for Unigene cluster for HUWE1 Gene Hs.136905

mRNA Expression by UniProt/SwissProt for HUWE1 Gene

Q7Z6Z7-HUWE1_HUMAN
Tissue specificity: Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas.
genes like me logo Genes that share expressions with HUWE1: view

Orthologs for HUWE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HUWE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HUWE1 36
  • 98.83 (n)
  • 98.77 (a)
HUWE1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HUWE1 36
  • 94.17 (n)
  • 98.29 (a)
HUWE1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HUWE1 36
  • 94.63 (n)
  • 98.77 (a)
HUWE1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Huwe1 36
  • 91.99 (n)
  • 97.74 (a)
Huwe1 16
Huwe1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HUWE1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HUWE1 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HUWE1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7108 36
tropical clawed frog
(Silurana tropicalis)
Amphibia huwe1 36
  • 75.78 (n)
  • 88.77 (a)
Str.8208 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3798 36
zebrafish
(Danio rerio)
Actinopterygii Dr.18821 36
huwe1 36
  • 71.89 (n)
  • 82.18 (a)
huwe1 37
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8184 36
  • 51.1 (n)
  • 45.83 (a)
CG8184 37
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea eel-1 37
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM1 39
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.655 36
barley
(Hordeum vulgare)
Liliopsida Hv.5280 36
corn
(Zea mays)
Liliopsida Zm.3978 36
rice
(Oryza sativa)
Liliopsida Os.7856 36
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5451 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
OneToMany
-- 37
  • 76 (a)
OneToMany
Species with no ortholog for HUWE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for HUWE1 Gene

ENSEMBL:
Gene Tree for HUWE1 (if available)
TreeFam:
Gene Tree for HUWE1 (if available)

Paralogs for HUWE1 Gene

Paralogs for HUWE1 Gene

Pseudogenes.org Pseudogenes for HUWE1 Gene

genes like me logo Genes that share paralogs with HUWE1: view

Variants for HUWE1 Gene

Sequence variations from dbSNP and Humsavar for HUWE1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs149215 -- 53,620,644(+) TAAAT(G/T)GATCT intron-variant
rs155440 -- 53,624,463(+) ctaca(C/T)tccag intron-variant
rs155441 -- 53,621,903(+) ATGAC(A/G)TTAGC intron-variant
rs169161 -- 53,635,868(+) GGTAC(A/C)TACTA intron-variant
rs198501 -- 53,625,883(-) ggccc(C/T)ggccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HUWE1 Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073
nsv6910 CNV Loss 18451855

Relevant External Links for HUWE1 Gene

HapMap Linkage Disequilibrium report
HUWE1
Human Gene Mutation Database (HGMD)
HUWE1
Locus Specific Mutation Databases (LSDB)
HUWE1

Disorders for HUWE1 Gene

(1) OMIM Diseases for HUWE1 Gene (300697)

UniProtKB/Swiss-Prot

HUWE1_HUMAN
  • Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706]: A syndrome characterized by the association of mental retardation with macrocephaly and variable contractures. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, X-linked 17 (MRX17) [MIM:300705]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:18252223}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation.

(6) Novoseek inferred disease relationships for HUWE1 Gene

Disease -log(P) Hits PubMed IDs
parkinsonism juvenile autosomal recessive 80.3 1
angelman syndrome 54.5 1
tumors 21.3 6
neurological disorders 10.3 1
parkinson disease 0 1

Relevant External Links for HUWE1

Genetic Association Database (GAD)
HUWE1
Human Genome Epidemiology (HuGE) Navigator
HUWE1
genes like me logo Genes that share disorders with HUWE1: view

Publications for HUWE1 Gene

  1. ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor. (PMID: 15989956) Chen D. … Gu W. (Cell 2005) 3 4 23
  2. Mule/ARF-BP1, a BH3-only E3 ubiquitin ligase, catalyzes the polyubiquitination of Mcl-1 and regulates apoptosis. (PMID: 15989957) Zhong Q. … Wang X. (Cell 2005) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4
  4. Cdc6 stability is regulated by the Huwe1 ubiquitin ligase after DNA damage. (PMID: 17567951) Hall J.R. … Cook J.G. (Mol. Biol. Cell 2007) 3 4
  5. 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) 3 4

Products for HUWE1 Gene

Sources for HUWE1 Gene

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