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
External Ids for HUWE1 Gene
- HGNC: 30892
- Entrez Gene: 10075
- Ensembl: ENSG00000086758
- OMIM: 300697
- UniProtKB: Q7Z6Z7
Previous GeneCards Identifiers for HUWE1 Gene
- GC0XM053444
- GC0XM053575
- GC0XM050615
- GC0XM053559
Summaries 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.
Additional gene information for HUWE1 Gene
- Monarch Initiative
- Search for HUWE1 at DataMed
- Search for HUWE1 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around HUWE1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- Xp11.22 by Ensembl
- Xp11.22 by Entrez Gene
- Xp11.22 by HGNC
HUWE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for HUWE1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for HUWE1 (HUWE1)
-
Custom Antibody ServicesOriGene Antibodies for HUWE1
- Novus Biologicals Antibodies for HUWE1
-
Abcam antibodies for HUWE1
- Invitrogen Antibodies for HUWE1
- GeneTex HUWE1 antibody for HUWE1
-
Custom Antibody ServicesProSci Antibodies for HUWE1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HUWE1
- Origene Custom Protein Services for HUWE1
- Novus Biologicals proteins for HUWE1
- antibodies-online: Search results for 2 available HUWE1 Proteins ranked by validation data
- Compare Top HUWE1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for HUWE1
Assay Products
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
Protein Domains for HUWE1 Gene
Suggested Antigen Peptide Sequences for HUWE1 Gene
Graphical View of Domain Structure for InterPro Entry
Q7Z6Z7UniProtKB/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.
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
| 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 | -- |
Phenotypes for HUWE1 Gene
- MGI mutant phenotypes for HUWE1:
-
inferred from 7 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- GenomeRNAi human phenotypes for HUWE1:
Animal Models for HUWE1 Gene
- MGI Knock Outs for HUWE1:
-
- Huwe1 tm1.2Mak
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HUWE1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for HUWE1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HUWE1 gene
- Search ViGene Biosciences for HUWE1
CRISPR Products
-
OriGene CRISPR knockouts for HUWE1
- genomics-online: gRNA clones - Search results for 49 available HUWE1 gene related products
- Overview of 49 available HUWE1 gene related products
- Applied Biological Materials CRISPR for HUWE1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HUWE1
- GenScript: Design CRISPR guide RNA sequences for HUWE1
miRNA for HUWE1 Gene
- miRTarBase miRNAs that target HUWE1
-
- hsa-mir-34a-5p (MIRT025352)
- hsa-mir-1303 (MIRT035882)
- hsa-mir-877-3p (MIRT036979)
- hsa-mir-877-5p (MIRT037319)
- hsa-mir-424-3p (MIRT038010)
- hsa-mir-7-1-3p (MIRT038682)
- hsa-mir-30c-2-3p (MIRT038686)
- hsa-mir-93-3p (MIRT038776)
- hsa-mir-660-5p (MIRT039457)
- hsa-mir-193b-3p (MIRT041449)
- hsa-mir-484 (MIRT042210)
- hsa-mir-324-3p (MIRT042879)
- hsa-mir-361-5p (MIRT044071)
- hsa-mir-29c-3p (MIRT044240)
- hsa-mir-106b-5p (MIRT044343)
- hsa-mir-320a (MIRT044520)
- hsa-mir-186-5p (MIRT045042)
- hsa-mir-149-5p (MIRT045495)
- hsa-mir-125b-5p (MIRT045992)
- hsa-mir-181b-5p (MIRT047250)
- hsa-mir-181a-5p (MIRT047319)
- hsa-mir-196a-5p (MIRT048243)
- hsa-mir-93-5p (MIRT048861)
- hsa-mir-29a-3p (MIRT049984)
- hsa-mir-17-5p (MIRT050828)
- hsa-let-7c-5p (MIRT051832)
- hsa-let-7b-5p (MIRT051966)
- hsa-let-7a-5p (MIRT052488)
- hsa-mir-4446-5p (MIRT563777)
- hsa-mir-3679-3p (MIRT563778)
- hsa-mir-6826-3p (MIRT563779)
- hsa-mir-190a-3p (MIRT563780)
- hsa-mir-4775 (MIRT563781)
- hsa-mir-3613-3p (MIRT563782)
- hsa-mir-5011-5p (MIRT563783)
- hsa-mir-410-3p (MIRT563784)
- hsa-mir-590-3p (MIRT563785)
- hsa-mir-1277-5p (MIRT563786)
- hsa-mir-542-5p (MIRT733138)
miRNA Products
- Search ViGene Biosciences for HUWE1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HUWE1
- Browse OriGene Inhibitory RNA Products For HUWE1
- genomics-online: shRNA clones - Search results for 49 available HUWE1 gene related products
- Overview of 49 available HUWE1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HUWE1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for HUWE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HUWE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HUWE1
- Applied Biological Materials Clones for HUWE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HUWE1
-
ViGene Biosciences adenoviral particle packaged cDNA for HUWE1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HUWE1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HUWE1 gene
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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
- Cytosol (4)
- Nucleoplasm (4)
| 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 | -- |
Pathways & Interactions for HUWE1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Ubiquitin mediated proteolysis | ||
| 4 | p53 pathway | ||
| 5 | Validated targets of C-MYC transcriptional activation | ||
Pathways by source for HUWE1 Gene
2 BioSystems pathways for HUWE1 Gene
1 KEGG pathway for HUWE1 Gene
UniProtKB/Swiss-Prot Q7Z6Z7-HUWE1_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for HUWE1 Gene
Selected Interacting proteins:
ENSP00000262854
Q7Z6Z7-HUWE1_HUMAN
for HUWE1 Gene via
STRING
MINT
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for HUWE1 Gene
Drugs & Compounds for HUWE1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for HUWE1 Gene
mRNA/cDNA for HUWE1 Gene
- (20) REFSEQ mRNAs :
- (20) Additional mRNA sequences :
- (869) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HUWE1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HUWE1
- genomics-online: gRNA clones - Search results for 49 available HUWE1 gene related products
- Overview of 49 available HUWE1 gene related products
- Applied Biological Materials CRISPR for HUWE1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HUWE1
- GenScript: Design CRISPR guide RNA sequences for HUWE1
miRNA Products
- Search ViGene Biosciences for HUWE1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HUWE1
- Browse OriGene Inhibitory RNA Products For HUWE1
- genomics-online: shRNA clones - Search results for 49 available HUWE1 gene related products
- Overview of 49 available HUWE1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HUWE1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for HUWE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HUWE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HUWE1
- Applied Biological Materials Clones for HUWE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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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| SP19: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
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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 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| ExUns: | 50a | · | 50b | · | 50c | · | 50d | ^ | 51 | ^ | 52a | · | 52b | · | 52c | ^ | 53a | · | 53b | · | 53c | ^ | 54 | ^ | 55 | ^ | 56a | · | 56b | ^ | 57a | · | 57b | ^ | 58a | · |
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Expression for HUWE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HUWE1 Gene:
HUWE1SOURCE GeneReport for Unigene cluster for HUWE1 Gene:
Hs.136905mRNA 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
Organs:
Head and neck:
- brain
- head
Limb:
- arm
- digit
- elbow
- finger
- hand
- upper limb
Primer Products
-
OriGene qPCR primer pairs for HUWE1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HUWE1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | HUWE1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | HUWE1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Huwe1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HUWE1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HUWE1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HUWE1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | huwe1 33 |
|
||
| Str.8208 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7108 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | huwe1 33 34 |
|
||
| Dr.18821 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3798 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8184 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | eel-1 34 |
|
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 |
|
OneToMany | |
| -- 34 |
|
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)
Paralogs for HUWE1 Gene
(24) SIMAP similar genes for HUWE1 Gene using alignment to 12 proteins:
Pseudogenes.org Pseudogenes for HUWE1 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HUWE1 Gene
Disorders for HUWE1 Gene
(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 |
|
|
| syndromic x-linked intellectual disability turner type |
|
|
| angelman syndrome |
|
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
No data available for Genatlas for HUWE1 Gene
Publications for HUWE1 Gene
- ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor. (PMID: 15989956) Chen D … Gu W (Cell 2005) 3 4 22 58
- 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
- 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
- Ubiquitin ligase ARF-BP1/Mule modulates base excision repair. (PMID: 19713937) Parsons JL … Dianov GL (The EMBO journal 2009) 3 4 58
- 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
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- Cyagen custom Knockout/knockin (KOKI) mouse models for HUWE1
- VectorBuilder custom plasmid, inducible vectors for HUWE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HUWE1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HUWE1
- antibodies-online: Search results for 69 available HUWE1 Antibodies ranked by validation data
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- ViGene Biosciences adenoviral particle packaged cDNA for HUWE1 gene
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