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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 5
  • Homologous To E6AP Carboxyl Terminus Homologous Protein 9 3 4
  • Upstream Regulatory Element-Binding Protein 1 3 4
  • HECT-Type E3 Ubiquitin Transferase HUWE1 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
  • ARF-BP1 3 4
  • HECTH9 3 4
  • URE-B1 3 4
  • LASU1 3 4
  • UREB1 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 2.3.2.26 4
  • EC 6.3.2.6 56
  • KIAA0312 4
  • KIAA1578 4
  • EC 6.3.2 56
  • HSPC272 3
  • Ib772 3

External Ids for HUWE1 Gene

Previous GeneCards Identifiers for HUWE1 Gene

  • GC0XM053444
  • GC0XM053575
  • GC0XM050615
  • GC0XM053559

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 cognitive disability. [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 Syndromic X-Linked Intellectual Disability Turner Type. 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 ligase activity. An important paralog of this gene is UBR5.

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

Additional gene information for HUWE1 Gene

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

Genomics for HUWE1 Gene

GeneHancer (GH) Regulatory Elements for HUWE1 Gene

Promoters and enhancers for HUWE1 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
GH0XI053681 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 572.9 +2.3 2330 6 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 HUWE1 FAM156B PHF8 KANTR ACTG1P10 ENSG00000233250 TSPYL2 KDM5C FGD1 HSD17B10
GH0XI052994 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.4 +691.4 691355 2.6 PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 BRCA1 YY1 ZNF213 ZNF207 FAM156A SMC1A KDM5C FAM156B ENSG00000233250 ACTG1P10 KDM5C-IT1 HUWE1 GC0XP052962
GH0XI053223 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.4 +462.0 461994 2.9 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 KDM5C GPR173 TSPYL2 FAM156B ACTG1P10 KANTR FAM120C HUWE1 ENSG00000227329 FAM156A
GH0XI054042 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 -357.6 -357620 3.9 PKNOX1 CLOCK FOXA2 ARNT NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 PHF8 KDM5C ACTG1P10 SMC1A KANTR ENSG00000233250 TSPYL2 APEX2 GPR173 MAGED2
GH0XI054439 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 -753.9 -753872 2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF143 TSR2 GNL3L PHF8 HUWE1 PIR39642 GC0XM054327
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HUWE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HUWE1 gene promoter:

Genomic Locations for HUWE1 Gene

Genomic Locations for HUWE1 Gene
chrX:53,532,096-53,686,729
(GRCh38/hg38)
Size:
154,634 bases
Orientation:
Minus strand
chrX:53,559,057-53,713,673
(GRCh37/hg19)

Genomic View for HUWE1 Gene

Genes around HUWE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HUWE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HUWE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for HUWE1 Gene

Q7Z6Z7:
  • DDLKSNTEY
  • TGTSKVPL
  • RLPSAHTCFNQLDLP
  • YFTRSFYKHILG
  • LPEGVDP
  • HLSYFKF
  • ELELLISGLP

Post-translational modifications for HUWE1 Gene

  • Phosphorylated on tyrosine; phosphorylation is probably required for its ability to inhibit TP53 transactivation.
  • Ubiquitination at posLast=173173, isoforms=2, 3190, isoforms=2, 3324, isoforms=2, 3342, isoforms=2, 3632, posLast=674674, isoforms=2, 31050, isoforms=2, 31107, posLast=11111111, isoforms=2, 31147, isoforms=2, 31225, posLast=12951295, isoforms=2, 31470, isoforms=2, 31608, posLast=16431643, isoforms=2, 31702, isoforms=2, 31713, isoforms=2, 31917, isoforms=2, 31926, isoforms=2, 31931, isoforms=2, 32172, isoforms=2, 32219, posLast=26562656, posLast=26712671, isoforms=2, 33244, isoforms=2, 33274, isoforms=2, 33314, posLast=33453345, posLast=33703370, posLast=34093409, posLast=34523452, posLast=35583558, posLast=36213621, isoforms=2, 33675, isoforms=2, 33697, posLast=39543954, posLast=42954295, isoforms=2, 34305, and isoforms=2, 34322
  • Modification sites at PhosphoSitePlus

Domains & Families for HUWE1 Gene

Gene Families for HUWE1 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q7Z6Z7

UniProtKB/Swiss-Prot:

HUWE1_HUMAN :
  • The HECT domain mediates inhibition of the transcriptional activity of p53.
  • Belongs to the UPL family. TOM1/PTR1 subfamily.
Domain:
  • The HECT domain mediates inhibition of the transcriptional activity of p53.
Family:
  • Belongs to the UPL family. TOM1/PTR1 subfamily.
genes like me logo Genes that share domains with HUWE1: view

Function for HUWE1 Gene

Molecular function for HUWE1 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:
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

Phenotypes From GWAS Catalog 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:0003723 RNA binding HDA,IDA 22658674
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 15989956
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HUWE1: view
genes like me logo Genes that share phenotypes with HUWE1: view

Human Phenotype Ontology for HUWE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HUWE1 Gene

MGI Knock Outs for HUWE1:

Animal Model Products

Clone Products

  • Addgene plasmids for HUWE1

No data available for Transcription Factor Targets 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
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 HUWE1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HUWE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IBA,ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 19713937
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HUWE1: view

Pathways & Interactions for HUWE1 Gene

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

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 TAS --
GO:0006281 DNA repair IEA --
GO:0006284 base-excision repair IMP 19713937
GO:0006513 protein monoubiquitination IDA 19713937
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with HUWE1: view

No data available for SIGNOR curated interactions for HUWE1 Gene

Drugs & Compounds for HUWE1 Gene

(4) Drugs for HUWE1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(3) Additional Compounds for HUWE1 Gene - From: HMDB and Novoseek

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 HUWE1: view

Transcripts for HUWE1 Gene

Unigene Clusters for HUWE1 Gene

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

Clone Products

  • Addgene plasmids for HUWE1

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 ^
SP1:
SP2: -
SP3:
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SP20: - - - - - - - - - - - - - - - - -
SP21:
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SP23:
SP24:

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 ·
SP1:
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SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
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SP14:
SP15:
SP16:
SP17:
SP18: - -
SP19: -
SP20: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP21:
SP22:
SP23:
SP24:

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 ^
SP1:
SP2:
SP3:
SP4: - -
SP5:
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11: -
SP12: - -
SP13: - - -
SP14:
SP15:
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SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:

ExUns: 50a · 50b · 50c · 50d ^ 51 ^ 52a · 52b · 52c ^ 53a · 53b · 53c ^ 54 ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58a ·
SP1:
SP2:
SP3:
SP4: - - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for HUWE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HUWE1 Gene

This gene is overexpressed in Fetal ovary (8.2) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HUWE1 Gene



Protein tissue co-expression partners for HUWE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HUWE1 Gene:

HUWE1

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.

Evidence on tissue expression from TISSUES for HUWE1 Gene

  • Nervous system(5)
  • Liver(4.8)
  • Blood(4.5)
  • Heart(4.3)
  • Intestine(4.2)
  • Lung(4)
  • Eye(3.6)
  • Adrenal gland(2.3)
  • Skin(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HUWE1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Limb:
  • arm
  • digit
  • elbow
  • finger
  • hand
  • upper limb
genes like me logo Genes that share expression patterns with HUWE1: view

No data available for mRNA differential expression in normal tissues for HUWE1 Gene

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 33 34
  • 98.83 (n)
dog
(Canis familiaris)
Mammalia HUWE1 33 34
  • 94.63 (n)
cow
(Bos Taurus)
Mammalia HUWE1 33 34
  • 94.17 (n)
mouse
(Mus musculus)
Mammalia Huwe1 33 16 34
  • 91.99 (n)
oppossum
(Monodelphis domestica)
Mammalia HUWE1 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HUWE1 34
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HUWE1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia huwe1 33
  • 75.78 (n)
Str.8208 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7108 33
zebrafish
(Danio rerio)
Actinopterygii huwe1 33 34
  • 71.89 (n)
Dr.18821 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3798 33
fruit fly
(Drosophila melanogaster)
Insecta CG8184 33 34
  • 51.1 (n)
worm
(Caenorhabditis elegans)
Secernentea eel-1 34
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM1 36
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.655 33
barley
(Hordeum vulgare)
Liliopsida Hv.5280 33
rice
(Oryza sativa)
Liliopsida Os.7856 33
corn
(Zea mays)
Liliopsida Zm.3978 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 76 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5451 33
Species where no ortholog for HUWE1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057518704 likely-pathogenic, Mental retardation, X-linked, syndromic, turner type 53,595,328(-) C/T coding_sequence_variant, missense_variant
rs1057520538 pathogenic, uncertain-significance, not provided, not specified 53,647,391(-) G/A coding_sequence_variant, missense_variant
rs1085307073 uncertain-significance, Mental retardation, X-linked, syndromic, turner type 53,539,012(-) G/A coding_sequence_variant, stop_gained
rs121918525 pathogenic, Mental retardation, X-linked, syndromic, turner type, Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706] 53,537,656(-) G/A coding_sequence_variant, missense_variant
rs121918526 pathogenic, likely-pathogenic, Mental retardation, X-linked, syndromic, turner type, not provided, Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706] 53,551,420(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2740175 CNV deletion 23290073
esv3576879 CNV gain 25503493
esv3576880 CNV gain 25503493
nsv435891 CNV deletion 17901297
nsv6910 CNV deletion 18451855

Variation tolerance for HUWE1 Gene

Residual Variation Intolerance Score: 0.148% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HUWE1 Gene

Human Gene Mutation Database (HGMD)
HUWE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HUWE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HUWE1 Gene

Disorders for HUWE1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HUWE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, turner type
  • mrxst
syndromic x-linked intellectual disability turner type
  • mental retardation, x-linked, syndromic, turner type
angelman syndrome
  • as
- elite association - COSMIC cancer census association via MalaCards
Search HUWE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HUWE1_HUMAN
  • 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.
  • Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:300706]: A syndrome characterized by the association of mental retardation with macrocephaly and variable contractures. {ECO:0000269 PubMed:18252223}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HUWE1

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 HUWE1: view

No data available for Genatlas for HUWE1 Gene

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 22 58
  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 22 58
  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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  4. Ubiquitin ligase ARF-BP1/Mule modulates base excision repair. (PMID: 19713937) Parsons JL … Dianov GL (The EMBO journal 2009) 3 4 58
  5. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (PMID: 18252223) Froyen G … Gécz J (American journal of human genetics 2008) 3 4 58

Products for HUWE1 Gene

  • Addgene plasmids for HUWE1