Aliases for HECTD4 Gene
Aliases for HECTD4 Gene
- HECT Domain E3 Ubiquitin Protein Ligase 4 2 3 5
- HECT Domain Containing E3 Ubiquitin Protein Ligase 4 2 3
- HECT-Type E3 Ubiquitin Transferase HECTD4 3 4
- HECT Domain-Containing Protein 4 3 4
- C12orf51 3 4
- Probable E3 Ubiquitin-Protein Ligase C12orf51 3
- Probable E3 Ubiquitin-Protein Ligase HECTD4 3
- Chromosome 12 Open Reading Frame 51 2
External Ids for HECTD4 Gene
- HGNC: 26611
- Entrez Gene: 283450
- Ensembl: ENSG00000173064
- UniProtKB: Q9Y4D8
Previous HGNC Symbols for HECTD4 Gene
- C12orf51
Previous GeneCards Identifiers for HECTD4 Gene
- GC12M112597
Summaries for HECTD4 Gene
GeneCards Summary for HECTD4 Gene
HECTD4 (HECT Domain E3 Ubiquitin Protein Ligase 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity.
UniProtKB/Swiss-Prot for HECTD4 Gene
-
E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
Additional gene information for HECTD4 Gene
- Monarch Initiative
- Search for HECTD4 at DataMed
- Search for HECTD4 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HECTD4 Gene
Genomics for HECTD4 Gene
GeneHancer (GH) Regulatory Elements for HECTD4 Gene
Promoters and enhancers for HECTD4 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 HECTD4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for HECTD4 Gene
Genomic Locations for HECTD4 Gene
- chr12:112,160,188-112,382,439
- (GRCh38/hg38)
- Size:
- 222,252 bases
- Orientation:
- Minus strand
- chr12:112,597,992-112,819,896
- (GRCh37/hg19)
- Size:
- 221,905 bases
- Orientation:
- Minus strand
Genomic View for HECTD4 Gene
Genes around HECTD4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.13 by Entrez Gene
- 12q24.13 by HGNC
- 12q24.13 by Ensembl
HECTD4 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 HECTD4 Gene
Proteins for HECTD4 Gene
-
Protein details for HECTD4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y4D8-HECD4_HUMAN
- Recommended name:
- Probable E3 ubiquitin-protein ligase HECTD4
- Protein Accession:
- Q9Y4D8
- L8B0P6
- Q3MJD5
- Q6P0A0
- Q7L530
- Q8NB70
- Q8WU73
- Q96NT9
- Q9NZS4
- Q9UFT6
Protein attributes for HECTD4 Gene
- Size:
- 3996 amino acids
- Molecular mass:
- 439344 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAF36539.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAH65706.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH65706.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI01483.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA31589.3; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAC03671.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for HECTD4 Gene
Post-translational modifications for HECTD4 Gene
Other Protein References for HECTD4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HECTD4
- Invitrogen Antibodies for HECTD4 (AFLGC-HECTD4)
- Search GeneTex for Antibodies for HECTD4
Protein Products
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Assay Products
No data available for DME Specific Peptides for HECTD4 Gene
Domains & Families for HECTD4 Gene
Gene Families for HECTD4 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for HECTD4 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HECTD4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HECTD4 Gene
Function for HECTD4 Gene
Molecular function for HECTD4 Gene
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
- 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.
Enzyme Numbers (IUBMB) for HECTD4 Gene
Phenotypes From GWAS Catalog for HECTD4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016740 | transferase activity | IEA | -- |
| GO:0061630 | ubiquitin protein ligase activity | IBA | -- |
Phenotypes for HECTD4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for HECTD4
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- Applied Biological Materials CRISPR for HECTD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HECTD4
miRNA for HECTD4 Gene
- miRTarBase miRNAs that target HECTD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HECTD4
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- genomics-online: shRNA clones - Search results for 21 available HECTD4 gene related products
- Overview of 21 available HECTD4 gene related products
Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HECTD4
- Applied Biological Materials Clones for HECTD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HECTD4
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HECTD4 Gene
Localization for HECTD4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HECTD4 Gene
- Membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| cytosol | 3 |
| nucleus | 2 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for HECTD4 Gene
No Data Available
UniProtKB/Swiss-Prot Q9Y4D8-HECD4_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for HECTD4 Gene
Selected Interacting proteins:
Q9Y4D8-HECD4_HUMAN
ENSP00000449784
for HECTD4 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for HECTD4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006006 | glucose metabolic process | IMP | 23575436 |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0042593 | glucose homeostasis | IMP | 23575436 |
| GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HECTD4 Gene
Transcripts for HECTD4 Gene
mRNA/cDNA for HECTD4 Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (61) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000377560 15759 bps (uc058tks.2)
- ENST00000549306 543 bps (uc058tkt.1)
- ENST00000549141 564 bps (uc058tku.1)
- ENST00000547085 1868 bps (uc058tkv.1)
- ENST00000548140 1426 bps (uc058tkw.1)
Unigene Clusters for HECTD4 Gene
- HECT domain containing E3 ubiquitin protein ligase 4:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for HECTD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HECTD4
- genomics-online: gRNA clones - Search results for 21 available HECTD4 gene related products
- Overview of 21 available HECTD4 gene related products
- Applied Biological Materials CRISPR for HECTD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HECTD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HECTD4
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HECTD4
- genomics-online: shRNA clones - Search results for 21 available HECTD4 gene related products
- Overview of 21 available HECTD4 gene related products
Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HECTD4
- Applied Biological Materials Clones for HECTD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||
| SP2: |
Expression for HECTD4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Adrenal (10.2), Plasma (9.0), Fetal Brain (6.9), Skin (6.3), and Liver, secretome (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HECTD4 Gene
NURSA nuclear receptor signaling pathways regulating expression of HECTD4 Gene:
HECTD4SOURCE GeneReport for Unigene cluster for HECTD4 Gene:
Hs.530943Evidence on tissue expression from TISSUES for HECTD4 Gene
- Nervous system(4.5)
- Eye(4.2)
- Liver(4.2)
- Lung(4.1)
Primer Products
-
OriGene qPCR primer pairs for HECTD4
- genomics-online: primer clones - Search results for 21 available HECTD4 gene related products
- Overview of 21 available HECTD4 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HECTD4 Gene
Orthologs for HECTD4 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HECTD4 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| HECTD4 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | HECTD4 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HECTD4 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gm15800 34 33 |
|
OneToOne | |
| Hectd4 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | RGD1309762 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HECTD4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HECTD4 34 |
|
OneToOne | |
| C15H12orf51 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | HECTD4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hectd4 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CU459012.3 34 |
|
OneToMany | |
| HECTD4 (1 of 3) 34 |
|
OneToMany | |||
| HECTD4 (3 of 3) 34 |
|
OneToMany | |||
| LOC101885095 33 |
|
||||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOM1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for HECTD4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- 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)
- worm (Caenorhabditis elegans)
Evolution for HECTD4 Gene
- ENSEMBL:
- Gene Tree for HECTD4 (if available)
- TreeFam:
- Gene Tree for HECTD4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HECTD4: view image
Paralogs for HECTD4 Gene
(1) SIMAP similar genes for HECTD4 Gene using alignment to 5 proteins:
- HECD4_HUMAN
- F8VU57_HUMAN
- F8VWT9_HUMAN
- J3KPF0_HUMAN
- V9GYT9_HUMAN
Pseudogenes.org Pseudogenes for HECTD4 Gene
No data available for Paralogs for HECTD4 Gene
Variants for HECTD4 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000001866 | -- | 112,184,511(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1000008290 | -- | 112,176,356(-) | T/G | intron_variant | |
| rs1000012077 | -- | 112,329,373(-) | T/G | intron_variant | |
| rs1000069855 | -- | 112,192,695(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1000080080 | -- | 112,351,880(-) | C/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv305e214 | CNV | gain | 21293372 |
| esv1004944 | CNV | deletion | 20482838 |
| esv1916833 | CNV | deletion | 18987734 |
| esv2746362 | CNV | deletion | 23290073 |
| esv2746365 | CNV | deletion | 23290073 |
| esv2746366 | CNV | deletion | 23290073 |
| esv2746367 | CNV | deletion | 23290073 |
| esv2746368 | CNV | deletion | 23290073 |
| esv3349536 | CNV | insertion | 20981092 |
| esv4498 | CNV | loss | 18987735 |
| nsv1122765 | CNV | deletion | 24896259 |
| nsv1126321 | CNV | deletion | 24896259 |
| nsv1142815 | CNV | tandem duplication | 24896259 |
| nsv1148350 | CNV | insertion | 26484159 |
| nsv470318 | CNV | gain | 18288195 |
| nsv476648 | CNV | novel sequence insertion | 20440878 |
| nsv483114 | CNV | gain | 15286789 |
| nsv975530 | CNV | duplication | 23825009 |
| nsv983364 | CNV | duplication | 23825009 |
Gene Damage Index Score:
3.58;
56.10% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HECTD4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HECTD4
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HECTD4 Gene
Disorders for HECTD4 Gene
Additional Disease Information for HECTD4
No disorders were found for HECTD4 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HECTD4 Gene
Publications for HECTD4 Gene
- Identification of a novel gene by whole human genome tiling array. (PMID: 23261826) Ishida H … Tashiro K (Gene 2013) 3 4 58
- Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. (PMID: 21270382) Baik I … Shin C (The American journal of clinical nutrition 2011) 2 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for HECTD4 Gene
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Sources for HECTD4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
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