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    HECTD4 HECT domain E3 ubiquitin protein ligase 4 [ Homo sapiens (human) ]

    Gene ID: 283450, updated on 5-May-2024

    Summary

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    Official Symbol
    HECTD4provided by HGNC
    Official Full Name
    HECT domain E3 ubiquitin protein ligase 4provided by HGNC
    Primary source
    HGNC:HGNC:26611
    See related
    Ensembl:ENSG00000173064 MIM:620209; AllianceGenome:HGNC:26611
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEEL; POTAGE; NEDSSCC; C12ord51; C12orf51
    Summary
    Predicted to enable ubiquitin-protein transferase activity. Involved in glucose homeostasis and glucose metabolic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 8.7), bone marrow (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q24.13
    Exon count:
    76
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (112160195..112382431, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (112137101..112359329, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112597999..112820235, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903022 Neighboring gene N-alpha-acetyltransferase 25, NatB auxiliary subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112540436-112540936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112544255-112544756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4881 Neighboring gene Sharpr-MPRA regulatory region 5940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7046 Neighboring gene TRAF-type zinc finger domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112603752-112604358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112616819-112617320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112617321-112617820 Neighboring gene Sharpr-MPRA regulatory region 5198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112622367-112622936 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112621798-112622366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112630491-112630990 Neighboring gene microRNA 6861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4882 Neighboring gene RN7SK pseudogene 71 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7048 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 2 pseudogene Neighboring gene ribosomal protein L7a pseudogene 60 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112818193-112818693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4883 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112819879-112820378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112855308-112855956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112855957-112856604 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112856605-112857252 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:112876497-112876700 Neighboring gene uncharacterized LOC124903023 Neighboring gene ribosomal protein L6 Neighboring gene protein tyrosine phosphatase non-receptor type 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans. Cha S, et al. PLoS One, 2015. PMID 26675016, Free PMC Article
    2. Genetic variation in C12orf51 is associated with prognosis of intestinal-type gastric cancer in a Chinese population. Zhang G, et al. Biomed Pharmacother, 2015 Feb. PMID 25661349
    3. Identification of a novel gene by whole human genome tiling array. Ishida H, et al. Gene, 2013 Mar 1. PMID 23261826
    4. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Faqeih EA, et al. Genet Med, 2023 Feb. PMID 36401616
    5. A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences. Cho SB, et al. Genes (Basel), 2021 Nov 16. PMID 34828409, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
      Title: Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
    2. A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences.
      Title: A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences.
    3. This exome-wide association study indicated that C12orf51 rs11066280, MYL2 rs12229654, and ALDH2 rs671 polymorphisms are linked to blood Pb levels in the Korean population.
      Title: Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population.
    4. SNPs in the HECTD4 gene is associated with decreased thoracic-to-hip circumference ratio in male Koreans.
      Title: A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans.
    5. There was no significant association between C12orf51 rs11066280 and survival of gastric cancer.
      Title: Genetic variation in C12orf51 is associated with prognosis of intestinal-type gastric cancer in a Chinese population.
    6. Newly implicated variants (MYL2, C12orf51 and OAS1) were found to be significantly associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes.
      Title: New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
    MedGen: C5830296 OMIM: 620250 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
    EBI GWAS Catalog
    Common variants at 12q24 are associated with drinking behavior in Han Chinese.
    EBI GWAS Catalog
    Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
    EBI GWAS Catalog
    Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
    EBI GWAS Catalog
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    EBI GWAS Catalog
    Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
    EBI GWAS Catalog
    New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10510, FLJ30092, FLJ30208, FLJ34154, KIAA0614, MGC126531, DKFZp586O1022

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glucose homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    probable E3 ubiquitin-protein ligase HECTD4
    Names
    AF-1 specific protein phosphatase
    HECT domain containing E3 ubiquitin protein ligase 4
    HECT domain-containing protein 4
    HECT-type E3 ubiquitin transferase HECTD4
    probable E3 ubiquitin-protein ligase C12orf51
    transmembrane protein C12orf51
    NP_001103132.4
    NP_001375232.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001109662.4 → NP_001103132.4  probable E3 ubiquitin-protein ligase HECTD4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC004031, AC004086, AC004217, AC073575
      UniProtKB/TrEMBL
      J3KPF0
      Related
      ENSP00000449784.2, ENST00000550722.5

    2. NM_001388303.1 → NP_001375232.1  probable E3 ubiquitin-protein ligase HECTD4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004031, AC004086, AC004217, AC073575
      Consensus CDS
      CCDS91751.1
      UniProtKB/TrEMBL
      A0A804HJX8, J3KPF0
      Related
      ENSP00000507687.1, ENST00000682272.1
      Conserved Domains (2) summary
      cd00078
      Location:4019 → 4413
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd13735
      Location:2399 → 2554
      SPRY_HECT_like; SPRY domain in HECT E3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      112160195..112382431 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      112137101..112359329 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173813.2: Suppressed sequence

      Description
      NM_173813.2: This RefSeq was suppressed because it appears to represent a partial coding sequence compared to the mouse predicted model XM_990451.2.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4D8.5 GenPept UniProtKB/Swiss-Prot:Q9Y4D8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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