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 his... See more...

Aliases for HUWE1 Gene

Aliases for HUWE1 Gene

  • HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1 2 3 5
  • UREB1 2 3 4
  • 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
  • E3 Ubiquitin-Protein Ligase 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
  • KIAA0312 2 4
  • ARF-BP1 3 4
  • URE-B1 3 4
  • Ib772 2 3
  • LASU1 3 4
  • HECT, UBA And WWE Domain Containing 1, E3 Ubiquitin Protein Ligase 3
  • HECT, UBA And WWE Domain-Containing Protein 1 4
  • HECT, UBA And WWE Domain Containing 1 2
  • HECT Domain Protein LASU1 3
  • BJ-HCC-24 Tumor Antigen 3
  • EC 2.3.2.26 4
  • EC 6.3.2.6 50
  • KIAA1578 4
  • EC 6.3.2 50
  • HSPC272 3
  • HECTH9 3
  • HectH9 4
  • MRXST 3
  • HUWE1 5
  • MULE 3
  • Mule 4

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 E3 Ubiquitin Protein Ligase 1) 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 Class I MHC mediated antigen processing and presentation and Validated targets of C-MYC transcriptional activation. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is HECTD4.

UniProtKB/Swiss-Prot Summary for HUWE1 Gene

  • E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15989957, PubMed:19713937, PubMed:15567145, PubMed:15767685, PubMed:18488021, PubMed:17567951, PubMed:19037095, PubMed:20534529). Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1 (PubMed:15989957). Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair (PubMed:19713937). Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4 (PubMed:15567145, PubMed:15767685, PubMed:15989956). Ubiquitinates MFN2 to negatively regulate mitochondrial fusion in response to decreased stearoylation of TFRC (PubMed:26214738). Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN (PubMed:18488021). May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation (PubMed:17567951). Mediates polyubiquitination of isoform 2 of PA2G4 (PubMed:19037095). Acts in concert with MYCBP2 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquination and degradation of NR1D1 (PubMed:20534529).

Gene Wiki entry for HUWE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HUWE1 Gene

Genomics for HUWE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HUWE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HUWE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HUWE1

Top Transcription factor binding sites by QIAGEN in the HUWE1 gene promoter:
  • AML1a
  • AP-1
  • CBF(2)
  • CREB
  • deltaCREB
  • Egr-1
  • FOXC1
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-Y

Genomic Locations for HUWE1 Gene

Latest Assembly
chrX:53,532,096-53,686,728
(GRCh38/hg38)
Size:
154,633 bases
Orientation:
Minus strand

Previous Assembly
chrX:53,559,057-53,713,664
(GRCh37/hg19 by Entrez Gene)
Size:
154,608 bases
Orientation:
Minus strand

chrX:53,559,057-53,713,673
(GRCh37/hg19 by Ensembl)
Size:
154,617 bases
Orientation:
Minus strand

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. Interacts with NR1D1 (PubMed:20534529).
    SequenceCaution:
    • Sequence=AAC62492.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAF28950.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF28950.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB13404.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA, contains the C-terminal part of ATP5ME.; Evidence={ECO:0000305}; Sequence=BAC06833.1; Type=Frameshift; 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 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
  • Modification sites at PhosphoSitePlus

Domains & Families for HUWE1 Gene

Gene Families for HUWE1 Gene

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

Protein Domains for HUWE1 Gene

InterPro:
Blocks:
  • Ubiquitin-associated domain
  • HECT domain (Ubiquitin-protein ligase)

Suggested Antigen Peptide Sequences for HUWE1 Gene

GenScript: Design optimal peptide antigens:
  • Upstream regulatory element-binding protein 1 (HUWE1_HUMAN)
  • HUWE1 protein (Q3B7K0_HUMAN)
  • HECT, UBA and WWE domain containing 1 (Q5H924_HUMAN)
  • HECT, UBA and WWE domain containing 1 (Q5H935_HUMAN)
  • HECT, UBA and WWE domain containing 1 (Q5H964_HUMAN)

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 Function:
E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15989957, PubMed:19713937, PubMed:15567145, PubMed:15767685, PubMed:18488021, PubMed:17567951, PubMed:19037095, PubMed:20534529). Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1 (PubMed:15989957). Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair (PubMed:19713937). Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4 (PubMed:15567145, PubMed:15767685, PubMed:15989956). Ubiquitinates MFN2 to negatively regulate mitochondrial fusion in response to decreased stearoylation of TFRC (PubMed:26214738). Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN (PubMed:18488021). May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation (PubMed:17567951). Mediates polyubiquitination of isoform 2 of PA2G4 (PubMed:19037095). Acts in concert with MYCBP2 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquination and degradation of NR1D1 (PubMed:20534529).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.26;.

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 22658674
GO:0004842 ubiquitin-protein transferase activity IDA 15989957
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
nucleus 5
cytosol 5
extracellular 4
plasma membrane 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1

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:0000139 Golgi membrane IBA 21873635
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IBA,ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 19713937
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.

SIGNOR curated interactions for HUWE1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for HUWE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA,TAS --
GO:0006281 DNA repair IEA --
GO:0006284 base-excision repair IBA,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

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
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with HUWE1: view

Transcripts for HUWE1 Gene

mRNA/cDNA for HUWE1 Gene

1 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 ^
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SP20: - - - - - - - - - - - - - - - - -
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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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SP18: - -
SP19: -
SP20: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP21:
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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:
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SP7: -
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SP11: -
SP12: - -
SP13: - - -
SP14:
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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: -
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SP24:

Relevant External Links for HUWE1 Gene

GeneLoc Exon Structure for
HUWE1

Expression for HUWE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for HUWE1 Gene



Protein tissue co-expression partners for HUWE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Heart(4.5)
  • Intestine(4.4)
  • Lung(4.2)
  • Eye(3.8)
  • Kidney(3)
  • Skin(2.9)
  • Pancreas(2.6)
  • Muscle(2.6)
  • Adrenal gland(2.6)
  • Spleen(2.2)
  • Thyroid gland(2)

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

Primer products for research

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 29 30
  • 98.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HUWE1 29 30
  • 94.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HUWE1 29 30
  • 94.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Huwe1 29 16 30
  • 91.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HUWE1 30
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HUWE1 30
  • 89 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HUWE1 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia huwe1 29
  • 75.78 (n)
Str.8208 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.7108 29
Zebrafish
(Danio rerio)
Actinopterygii huwe1 29 30
  • 71.89 (n)
OneToOne
Dr.18821 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3798 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG8184 29 30
  • 51.1 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea eel-1 30
  • 30 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM1 32 32
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.655 29
Barley
(Hordeum vulgare)
Liliopsida Hv.5280 29
Rice
(Oryza sativa)
Liliopsida Os.7856 29
Corn
(Zea mays)
Liliopsida Zm.3978 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 76 (a)
OneToMany
-- 30
  • 50 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5451 29
Species where no ortholog for HUWE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for HUWE1: view image
Alliance of Genome Resources:
Additional Orthologs for HUWE1

Paralogs for HUWE1 Gene

(24) SIMAP similar genes for HUWE1 Gene using alignment to 12 proteins:

  • HUWE1_HUMAN
  • H0Y5W0_HUMAN
  • H0Y659_HUMAN
  • H0Y7U1_HUMAN
  • L8E996_HUMAN
  • Q3B7K0_HUMAN
  • Q5H924_HUMAN
  • Q5H935_HUMAN
  • Q5H962_HUMAN
  • Q5H963_HUMAN
  • Q5H964_HUMAN
  • Q8IWJ0_HUMAN

Pseudogenes.org Pseudogenes for HUWE1 Gene

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

Variants for HUWE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HUWE1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1040586 Uncertain Significance: not provided 53,534,071(-) T/A
NM_031407.7(HUWE1):c.12958A>T (p.Ile4320Phe)
MISSENSE
1041460 Uncertain Significance: not provided 53,547,795(-) G/A
NM_031407.7(HUWE1):c.10514C>T (p.Pro3505Leu)
MISSENSE
1048095 Uncertain Significance: Syndromic X-linked intellectual disability Turner type 53,535,394(-) C/T
NM_031407.7(HUWE1):c.12639G>A (p.Met4213Ile)
MISSENSE
841299 Pathogenic: Syndromic X-linked intellectual disability Turner type; not provided 53,551,077(-) C/T
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His)
MISSENSE
870378 Uncertain Significance: Syndromic X-linked intellectual disability Turner type 53,545,113(-) C/T
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HUWE1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
HUWE1

SNP Genotyping and Copy Number Assays for research

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

Disorders for HUWE1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for HUWE1 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

UniProtKB/Swiss-Prot

HUWE1_HUMAN
  • Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]: An X-linked neurodevelopmental disorder with highly variable clinical manifestations. Common features consist of moderate to profound intellectual disability, delayed or absent speech, short stature with small hands and feet, and non-specific but recurrent dysmorphic facial features such as macrocephaly, microcephaly, a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures and a short philtrum. Patients may manifest other features, such as hypotonia, seizures and delayed bone age. {ECO:0000269 PubMed:18252223, ECO:0000269 PubMed:25985138, ECO:0000269 PubMed:27130160, ECO:0000269 PubMed:27884935, ECO:0000269 PubMed:29180823}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for HUWE1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HUWE1: view

No data available for Genatlas for HUWE1 Gene

Publications for HUWE1 Gene

  1. 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 72
  2. ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor. (PMID: 15989956) Chen D … Gu W (Cell 2005) 3 4 22
  3. 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
  4. 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
  5. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (PMID: 29180823) Moortgat S … Newbury-Ecob RA (European journal of human genetics : EJHG 2018) 3 4

Products for HUWE1 Gene

Sources for HUWE1 Gene