HUWE1 Gene
protein-coding GIFtS: 64
GCID: GC0XM053575
|
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein...(Previous names: HECT, UBA and WWE domain containing 1 )
| |
Aliases
for HUWE1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| HECT, UBA And WWE Domain Containing 1, E3 Ubiquitin Protein Ligase1 2 | | HECTH92 | | UREB11 2 3 5 | | HSPC2722 | | KIAA03121 3 5 | | MULE2 | | LASU12 3 5 | | BJ-HCC-24 Tumor Antigen2 | | Ib7721 2 | | E3 Ubiquitin-Protein Ligase HUWE12 | | Homologous To E6AP Carboxyl Terminus Homologous Protein 92 3 | | HECT Domain Protein LASU12 | | Large Structure Of UREB12 3 | | EC 6.3.2.-3 | | Upstream Regulatory Element-Binding Protein 12 3 | | HectH93 | | ARF-BP12 3 | | KIAA15783 | | URE-B12 3 | | Mule3 | | ARF-Binding Protein 12 3 | | HECT, UBA And WWE Domain-Containing Protein 13 | | Mcl-1 Ubiquitin Ligase E32 3 | | EC 6.3.28 | | URE-Binding Protein 12 3 | | EC 6.3.2.68 | | HECT, UBA And WWE Domain Containing 11 | | |
Export aliases for HUWE1 gene to outside databasesPrevious GC identifers: GC0XM053444 GC0XM050615 |
Summaries
for HUWE1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HUWE1:
This gene encodes a member of the HECT E3 ubiquitin ligase family. The HECT domain lies in the C-terminus and containsthe active-site cysteine which forms an intermediate ubiquitin-thioester bond. E3 family members are divided intothree subfamilies based on their protein-protein interaction domains; this gene encodes a member of the SI(ngle)-HECTE3 subfamily. In lung, breast, and colorectal carcinomas, this gene is highly expressed. Mutations in this gene hasbeen found in 3 unrelated families with X-linked syndromic mental retardation, Turner type. (provided by RefSeq, Nov2009)
UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7Function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of targetproteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediatesmonoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role inbase-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation andproliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNAdamage by polyubiquitinating and targeting CDC6 to degradation
Gene Wiki entry for HUWE1
|
Genomic Views
for HUWE1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011630.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HUWE1 gene promoter:
AML1a AP-1 Egr-1 CREB FOXC1 FOXJ2 (long isoform) deltaCREB FOXJ2 NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for HUWE1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HUWE1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp11.22 Ensembl cytogenetic band: Xp11.22 HGNC cytogenetic band: Xp11.22HUWE1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM053575: view genomic region
(about GC identifiers)
Start:
|
53,559,057 bp from pter |
End:
|
53,713,673 bp from pter |
Size:
|
154,617 bases |
Orientation:
|
minus strand |
|
Proteins
for HUWE1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7 (See
protein sequence)Recommended Name: E3 ubiquitin-protein ligase HUWE1 Size: 4374 amino acids; 481891 Da
Subunit: Interacts with isoform p14ARF of CDKN2A which strongly inhibits HUWE1 ubiquitin ligase activity. Interactswith MYCN, POLB and CDC6
Subcellular location: Cytoplasm. Nucleus. Note=Mainly expressed in the cytoplasm of most tissues, except in the nucleusof spermatogonia, primary spermatocytes and neuronal cells (By similarity). Predominantly cytosolic or perinuclear insome colorectal carcinoma cells
Sequence caution: Sequence=AAC62492.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=AAF28950.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF28950.1;Type=Frameshift; Positions=4356; Sequence=BAB13404.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA, contains theC-terminal part of ATP5I; Sequence=BAC06833.1; Type=Frameshift; Positions=982, 1055;
3 PDB 3D structures from  and Proteopedia  for HUWE1:2EKK (3D)
3G1N (3D)
3H1D (3D)
Secondary accessions: O15029 Q4G2Z2 Q5H961 Q6P4D0 Q8NG67 Q9BUI0 Q9HCJ4 Q9NSL6 Q9P0A9Alternative splicing: 3 isoforms: Q7Z6Z7-1 Q7Z6Z7-2 Q7Z6Z7-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for HUWE1: NX_Q7Z6Z7
Post-translational modifications:
Phosphorylated on tyrosine; phosphorylation is probably required for its ability to inhibit TP53 transactivation (Bysimilarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7Z6Z7
4/7 DME Specific Peptides for HUWE1 (Q7Z6Z7) (see all 7)
HUWE1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_113584.3
ENSEMBL proteins: ENSP00000340648 ENSP00000401253 ENSP00000403236 ENSP00000218328 ENSP00000415122 ENSP00000413651 ENSP00000262854 Reactome Protein details: Q7Z6Z7
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
HUWE1 for ontologies About GeneDecksing
HUWE1 Antibody Products:
Assay Products for HUWE1: |
Protein
Domains /
Families
for HUWE1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HUWE1 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q7Z6Z7ProtoNet protein and cluster: Q7Z6Z7 2 Blocks protein families: IPB000449 Ubiquitin-associated domain IPB000569 HECT domain (Ubiquitin-protein ligase)
UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7Domain: The HECT domain mediates inhibition of the transcriptional activity of p53Similarity: Belongs to the TOM1/PTR1 familySimilarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domainSimilarity: Contains 1 UBA domainSimilarity: Contains 1 UIM (ubiquitin-interacting motif) repeatSimilarity: Contains 1 WWE domain |
Function
for HUWE1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7Function: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of targetproteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediatesmonoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role inbase-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation andproliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNAdamage by polyubiquitinating and targeting CDC6 to degradationEnzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22 EC 6.3.2.62
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HUWE1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HUWE1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HUWE1 (NM_031407) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HUWE1 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HUWE1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HUWE1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
HUWE1 for ontologies About GeneDecksing
5 GenomeRNAi human phenotypes for HUWE1:
Animal Models:
13 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Huwe1):
HUWE1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for HUWE1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Antigen processing: Ubiquitination & Proteasome degradation | | | 2 | Immune System | | | 3 | Protein Stability | | | 4 | Validated targets of C-MYC transcriptional activation | | | 5 | p53 pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for HUWE1
1 
Cell Signaling Technology (CST) Pathway for HUWE1
2  BioSystems Pathways for HUWE1
5 
Reactome Pathways for HUWE1
1 
Kegg Pathway (Kegg details for HUWE1):
UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7Pathway: Protein modification; protein ubiquitination
HUWE1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HUWE1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/680 Interacting proteins for HUWE1 (Q7Z6Z71, 2, 3 ENSP000002628544) via UniProtKB, MINT, STRING, and/or I2D (see all 680)
About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
HUWE1 for ontologies About GeneDecksing
|
Drugs & Compounds
for HUWE1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HUWE1 for compounds About GeneDecksing
 Browse Tocris compounds for HUWE1
4 HMDB Compounds for HUWE1 About this table
3 Novoseek chemical compound relationships for HUWE1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| auxin |
26.7 |
1 |
12932326 (1) |
| tyrosine |
0.491 |
4 |
12907674 (1), 7968380 (1), 10966114 (1) |
| oligonucleotide |
0 |
2 |
7968380 (2) |
Search CenterWatch for drugs/clinical trials and news about HUWE1
|
Transcripts
for HUWE1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HUWE1 gene: NM_031407.5 Unigene Cluster for HUWE1: HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase Hs.136905 [show with all ESTs]Unigene Representative Sequence: NM_03140715 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000342160 ENST00000427052(uc004dsn.3) ENST00000426907(uc004dsq.1)
ENST00000488459 ENST00000474971 ENST00000480438 ENST00000463852 ENST00000468322
ENST00000474288 ENST00000218328 ENST00000489876 ENST00000424562 ENST00000471676
ENST00000446750 ENST00000262854(uc004dsp.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HUWE1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HUWE1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HUWE1 (NM_031407) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HUWE1 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HUWE1 |
Additional cDNA sequence: AB002310.3 AB071605.1 AF057569.1 AF161390.1 AK056671.1 AK091352.1 AK223167.1 AK294575.1 AL162050.1 AL832105.1 AY772009.1 AY929612.1 BC002602.2 BC018750.1 BC038184.1 BC063505.1 BC072421.1 BC107576.1 CR456813.1 DQ097177.1 24/47 DOTS entries (see all 47): DT.100029764 DT.219587 DT.95140457 DT.91781905 DT.99988746 DT.87017491 DT.92474896 DT.87017492 DT.91661861 DT.91750987 DT.100796956 DT.435099 DT.95165381 DT.40106390 DT.100745331 DT.121315583 DT.95165483 DT.100745413 DT.121315458 DT.95245723 DT.121315613 DT.100014744 DT.100796961 DT.92414722 24/869 AceView cDNA sequences (see all 869): BE046446 BQ056779 BM894241 BM694935 BU742187 BU619074 BU733938 AI919228 BF929685 BC072421 AL705183 AB002310 BU630144 BE045327 AA987654 AK091352 BX281070 BQ229336 AI923747 BE675126 AA622290 BQ225549 CK000767 AL705808
GeneLoc Exon Structure
5/24 Alternative Splicing Database (ASD) splice patterns (SP) for HUWE1 (see all 24) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 50a | · | 50b | · | 50c | · | 50d | ^ | 51 | ^ | 52a | · | 52b | · | 52c | ^ | 53a | · | 53b | · | 53c | ^ | 54 | ^ | 55 | ^ | 56a | · | 56b | ^ | 57a | · | 57b | ^ | 58a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | - | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | |
ECgene alternative splicing isoforms for HUWE1
|
Expression
for HUWE1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HUWE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See HUWE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HUWE1
SOURCE GeneReport for Unigene cluster: Hs.136905
UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7Tissue specificity: Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number ofcell lines, predominantly in those from colorectal carcinomas
SABiosciences Expression via Pathway-Focused PCR Arrays including HUWE1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HUWE1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HUWE1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HUWE1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HUWE1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HUWE1 |
Orthologs
for HUWE1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for HUWE1 gene from 7/32 species (see all 32) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
HUWE16 |
-- |
90(a) |
1 ↔ 1 |
1(205005682-205100877) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.71082 |
Xenopus laevis transcribed sequence with weak similarity more |
81.56(n) |
|
CA788838.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.188212 |
Transcribed sequence with strong similarity to protein more |
80.32(n) |
|
CD757656.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG81841 |
CG8184 |
49.08(n)
42.47(a) |
|
32510 NM_132831.1 NP_573059.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
eel-16 |
Enhancer of EfL-1 mutant phenotype family member (... |
23(a) |
1 ↔ 1 |
IV(3032764-3050100) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
UPL11 |
ubiquitin-protein ligase 1 |
42.47(n)
32.62(a) |
|
842036 NM_001198316.1 NP_001185245.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.78562 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
73.55(n) |
|
AK073264.1 |
ENSEMBL Gene Tree for HUWE1 (if available)
TreeFam Gene Tree for HUWE1 (if available) |
Paralogs
for HUWE1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HUWE1 gene
- UBR52
18/24 SIMAP similar genes for HUWE1 using alignment to 12 protein entries: HUWE1_HUMAN (see all proteins)
(see all similar genes):DKFZp564H223 ITCH NEDD4 SMURF1 DKFZp564G092 NEDD4L
WWP1 WWP2 SMURF2 HECW1 NEDL1 HECW2
KIAA0317 UBE3A HACE1 HECTD2 HERC4 UBE3C
HUWE1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for HUWE1
PGOHUM00000248873
|
Genomic Variants
for HUWE1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HUWE1 (53559057 - 53713673 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HUWE1
1 CNV: 23256
Human Gene Mutation Database (HGMD): HUWE1
Locus Specific Mutation Databases (LSDB): HUWE1
| SABiosciences Cancer Mutation PCR Assays |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing HUWE1: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HUWE1 |
|
Disorders
/ Diseases
for HUWE1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HUWE1 for disorders About GeneDecksing
OMIM gene information: 300697
OMIM disorders: 300706
UniProtKB/Swiss-Prot: HUWE1_HUMAN, Q7Z6Z7
Defects in HUWE1 are the cause of mental retardation syndromic X-linked Turner type (MRXST) [MIM:300706]; alsoknown as mental retardation and macrocephaly syndrome. MRXST shows clinical variability. Associated phenotypes includemacrocephaly and variable contractures A chromosomal microduplication involving HUWE1 and HSD17B10 is the cause of mental retardation X-linked type17 (MRX17) [MIM:300705]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation ischaracterized by significantly sub-average general intellectual functioning associated with impairments in adaptativebehavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mentalretardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectualdeficiency is the only primary symptom of non-syndromic X-linked mental retardation
20/27  diseases for HUWE1 (see all 27): About MalaCardsmental retardation, x-linked, syndromic, turner type mental retardation, x-linked mental retardation, x-linked syndromic la crosse encephalitis
dientamoebiasis carcinoma rhinosporidiosis chronic wasting disease
amyotrophic lateral sclerosis tracheitis mental retardation syndrome enophthalmos
lateral sclerosis coccidiosis angelman syndrome hemorrhagic disease
ataxia telangiectasia glanders parkinson's disease encephalitis
6 Novoseek disease relationships for HUWE1 gene About this table
Human Genome Epidemiology (HuGE) Navigator: HUWE1 (3 documents)
Export disorders for HUWE1 gene to outside databases
|
Publications
for HUWE1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HUWE1 gene, integrated from 9 sources (see all 183):
(articles sorted by number of sources associating them with HUWE1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (1997)
- Mule/ARF-BP1, a BH3-only E3 ubiquitin ligase, catalyzes the polyubiquitination of Mcl-1 and regulates apoptosis. (PubMed id 15989957)1, 2, 9 Zhong Q.... Wang X. (2005)
- ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor. (PubMed id 15989956)1, 2, 9 Chen D.... Gu W. (2005)
- Ubiquitin ligase ARF-BP1/Mule modulates base excision repair. (PubMed id 19713937)1, 2 Parsons J.L....Dianov G.L. (2009)
- The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein. (PubMed id 18488021)1, 2 Zhao X.... Lasorella A. (2008)
- Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (PubMed id 18252223)1, 2 Froyen G.... Gecz J. (2008)
- Cdc6 stability is regulated by the Huwe1 ubiquitin ligase after DNA damage. (PubMed id 17567951)1, 2 Hall J.R....Cook J.G. (2007)
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
|
External Searches for HUWE1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HUWE1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HUWE1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing HUWE1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for HUWE1 gene:
Search GeneIP for patents involving HUWE1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HUWE1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for HUWE1 | | OriGene shRNA RFP for HUWE1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HUWE1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HUWE1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HUWE1 | | OriGene 3'-UTR Clone for HUWE1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HUWE1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HUWE1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HUWE1 | | OriGene Custom Protein Services for HUWE1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HUWE1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HUWE1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HUWE1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HUWE1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HUWE1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HUWE1 |
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| | Antibodies & Assays for HUWE1 |
| | | | Search Tocris compounds for HUWE1 |
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 | | | HUWE1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HUWE1 |
|  |  |  | | | | ThermoFisher Antibodies for HUWE1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HUWE1 |
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