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
  • Probable E3 Ubiquitin-Protein Ligase HECTD4 3 4
  • 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
  • Chromosome 12 Open Reading Frame 51 2
  • AF-1 Specific Protein Phosphatase 3
  • Transmembrane Protein C12orf51 3
  • EC 2.3.2.26 4
  • C12ord51 3
  • KIAA0614 4
  • POTAGE 3
  • HEEL 3

External Ids for HECTD4 Gene

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. Diseases associated with HECTD4 include Achilles Bursitis and Palmoplantar Keratoderma, Punctate Type Iii. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HERC2.

UniProtKB/Swiss-Prot Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HECTD4 Gene

Genomics for HECTD4 Gene

GeneHancer (GH) Regulatory Elements for HECTD4 Gene

Promoters and enhancers for HECTD4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J112380 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 750.6 +0.6 638 2.8 SP1 ZBTB40 RBPJ POLR2A TCF7L2 NR2F1 NR2F6 HCFC1 MIXL1 ZNF362 HECTD4 HSALNG0094111 ADAM1A MAPKAPK5 PCNPP1 TMEM116 RF00017-1279
GH12J111402 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.4 +973.5 973474 13.1 GTF3C2 ZNF785 ZNF24 SP1 CTCF RBPJ SMARCE1 POLR2A USF2 ZNF362 SH2B3 ATXN2 HSPA8P14 ADAM1A FAM216A PHETA1 HECTD4 ARPC3 MAPKAPK5 ACAD10
GH12J113183 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 18.4 -803.2 -803215 3.7 SIN3A SP1 SREBF1 ZBTB6 RBPJ SMARCE1 POLR2A USF2 NR2F6 FOS RITA1 DDX54 RBM19 SLC8B1 HECTD4 RPL6 CFAP73 DYNLL1P4 ENSG00000257286
GH12J111766 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +615.0 614967 3.3 ZBTB40 RBPJ SMARCE1 NFYC HLF L3MBTL2 DACH1 ZNF121 POLR2A NFIB ALDH2 ATXN2 ADAM1A HECTD4 ENSG00000257767 MIR6761
GH12J111424 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +946.4 946375 23.7 ZNF24 SP1 ZBTB40 SREBF1 FOXA1 HDAC2 NR2F6 MYC ETV6 RELA piR-51327 ADAM1A SH2B3 ATXN2 PHETA1 MAPKAPK5 PCNPP1 RPL6 HECTD4 HSPA8P14
- 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

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:
HECTD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HECTD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for HECTD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HECTD4 Gene

Post-translational modifications for HECTD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HECTD4 Gene

No data available for DME Specific Peptides for HECTD4 Gene

Domains & Families for HECTD4 Gene

Gene Families for HECTD4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HECTD4 Gene

Suggested Antigen Peptide Sequences for HECTD4 Gene

GenScript: Design optimal peptide antigens:
  • C12orf51 protein (B7ZKU4_HUMAN)
  • C12orf51 protein (B7ZKU8_HUMAN)
  • Probable E3 ubiquitin-protein ligase C12orf51 (K0614_HUMAN)
genes like me logo Genes that share domains with HECTD4: view

No data available for Graphical View of Domain Structure and 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:
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 HECTD4 Gene

Phenotypes From GWAS Catalog for HECTD4 Gene

Gene Ontology (GO) - Molecular Function for HECTD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HECTD4: view
genes like me logo Genes that share phenotypes with HECTD4: view

Animal Model Products

CRISPR Products

miRNA for HECTD4 Gene

miRTarBase miRNAs that target HECTD4

Clone Products

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.

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 HECTD4 gene
Compartment Confidence
cytosol 4
plasma membrane 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HECTD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HECTD4: view

Pathways & Interactions for HECTD4 Gene

PathCards logo

SuperPathways for HECTD4 Gene

No Data Available

UniProtKB/Swiss-Prot Q9Y4D8-HECD4_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for HECTD4 Gene

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
genes like me logo Genes that share ontologies with HECTD4: view

No data available for Pathways by source and SIGNOR curated interactions for HECTD4 Gene

Drugs & Compounds for HECTD4 Gene

No Compound Related Data Available

Transcripts for HECTD4 Gene

mRNA/cDNA for HECTD4 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HECTD4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15
SP1:
SP2:

Relevant External Links for HECTD4 Gene

GeneLoc Exon Structure for
HECTD4
ECgene alternative splicing isoforms for
HECTD4

Expression for HECTD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HECTD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HECTD4 Gene

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:

HECTD4

SOURCE GeneReport for Unigene cluster for HECTD4 Gene:

Hs.530943

Evidence on tissue expression from TISSUES for HECTD4 Gene

  • Nervous system(4.5)
  • Eye(4.2)
  • Liver(4.2)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with HECTD4: view

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.

Orthologs for HECTD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HECTD4 33 32
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 33
  • 99 (a)
OneToMany
-- 33
  • 98 (a)
OneToMany
-- 33
  • 97 (a)
OneToMany
HECTD4 32
  • 92.28 (n)
oppossum
(Monodelphis domestica)
Mammalia HECTD4 33
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HECTD4 33 32
  • 91.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gm15800 33 32
  • 88.55 (n)
OneToOne
Hectd4 17
rat
(Rattus norvegicus)
Mammalia RGD1309762 32
  • 88.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HECTD4 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves HECTD4 33
  • 93 (a)
OneToOne
C15H12orf51 32
  • 80.86 (n)
lizard
(Anolis carolinensis)
Reptilia HECTD4 33
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hectd4 32
  • 76.25 (n)
zebrafish
(Danio rerio)
Actinopterygii CU459012.3 33
  • 84 (a)
OneToMany
HECTD4 (1 of 3) 33
  • 77 (a)
OneToMany
HECTD4 (3 of 3) 33
  • 76 (a)
OneToMany
LOC101885095 32
  • 71.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM1 33
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 29 (a)
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

genes like me logo Genes that share paralogs with HECTD4: view

Variants for HECTD4 Gene

Sequence variations from dbSNP and Humsavar for HECTD4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1555248311 uncertain-significance, not specified 112,184,981(-) G/A coding_sequence_variant, stop_gained
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

Structural Variations from Database of Genomic Variants (DGV) for HECTD4 Gene

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

Variation tolerance for HECTD4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HECTD4 Gene

Disorders for HECTD4 Gene

MalaCards: The human disease database

(60) MalaCards diseases for HECTD4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
achilles bursitis
  • achilles bursitis or tendinitis
palmoplantar keratoderma, punctate type iii
  • ppkp3
heel spur
  • calcaneal spur
erythrasma
  • infection due to corynebacterium minutissimum
cone-rod dystrophy 17
  • cord17
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HECTD4

genes like me logo Genes that share disorders with HECTD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HECTD4 Gene

Publications for HECTD4 Gene

  1. Identification of a novel gene by whole human genome tiling array. (PMID: 23261826) Ishida H … Tashiro K (Gene 2013) 3 4 56
  2. 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 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. 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 56
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 56

Products for HECTD4 Gene

Sources for HECTD4 Gene