HECTD4 Gene (Protein Coding)

HECT Domain E3 Ubiquitin Protein Ligase 4

GC12M112160
GIFtS:
31
See more...

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
  • KIAA0614 2 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
  • FLJ34154 2
  • POTAGE 3
  • HECTD4 5
  • 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 Plantar Fasciitis and Heel Spur. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is HUWE1.

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 Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HECTD4

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 Structure • Gene Density

RefSeq DNA sequence for HECTD4 Gene

Proteins for HECTD4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=Truncated N-terminus.; 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=Truncated N-terminus.; 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HECTD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HECTD4 Gene

Protein Expression for HECTD4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HECTD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HECTD4 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0005515 protein binding IPI 15161933
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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
plasma membrane 4
cytosol 4
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HECTD4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HECTD4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HECTD4

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

Expression for HECTD4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for HECTD4 Gene
mRNA expression by BioGPS for HECTD4 GenemRNA expression by GTEx 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HECTD4

SOURCE GeneReport for Unigene cluster for HECTD4 Gene:

Hs.530943

Evidence on tissue expression from TISSUES for HECTD4 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Eye(4.5)
  • Lung(4.4)
  • Bone(3.8)
  • Muscle(3.6)
  • Skin(3.5)
  • Blood(3.2)
  • Heart(2.8)
  • Intestine(2.8)
  • Thyroid gland(2.6)
  • Kidney(2.5)
  • Bone marrow(2.5)
  • Stomach(2.2)
  • Lymph node(2.2)
  • Urine(2.1)
  • Adrenal gland(2.1)
  • Spleen(2.1)
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 30 31
  • 99.71 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia -- 31
  • 99 (a)
 OneToMany
-- 31
  • 98 (a)
 OneToMany
-- 31
  • 97 (a)
 OneToMany
HECTD4 30
  • 92.28 (n)
Oppossum
(Monodelphis domestica)
 Mammalia HECTD4 31
  • 92 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HECTD4 30 31
  • 91.99 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gm15800 30 31
  • 88.55 (n)
 OneToOne
Hectd4 17
Rat
(Rattus norvegicus)
 Mammalia RGD1309762 30
  • 88.36 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia HECTD4 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves HECTD4 31
  • 93 (a)
 OneToOne
C15H12orf51 30
  • 80.86 (n)
Lizard
(Anolis carolinensis)
 Reptilia HECTD4 31
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia hectd4 30
  • 76.25 (n)
Zebrafish
(Danio rerio)
 Actinopterygii CU459012.3 31
  • 84 (a)
 OneToMany
HECTD4 (1 of 3) 31
  • 77 (a)
 OneToMany
HECTD4 (3 of 3) 31
  • 76 (a)
 OneToMany
LOC101885095 30
  • 71.68 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TOM1 31
  • 19 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 29 (a)
 OneToOne
Species where no ortholog for HECTD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HECTD4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
714185 Benign: not provided 112,167,443(-) G/A SYNONYMOUS_VARIANT
714186 Benign: not provided 112,216,859(-) T/G SYNONYMOUS_VARIANT
773266 Benign: not provided 112,163,079(-) C/T SYNONYMOUS_VARIANT
787932 Benign: not provided 112,167,392(-) G/A SYNONYMOUS_VARIANT
787933 Benign: not provided 112,216,356(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HECTD4 Gene

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

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

Disorder Aliases PubMed IDs
plantar fasciitis
  • fasciitis, plantar
heel spur
  • calcaneal spur
tibial neuropathy
  • posterior tibial neuropathy
tarsal tunnel syndrome
  • neuropathy of the posterior tibial nerve and its branches
achilles bursitis
  • achilles bursitis or tendinitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HECTD4

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

ExternalLinks

View latest publications for HECTD4 gene in Mastermind

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