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

Gene ID: 283450, updated on 18-Jan-2023

Summary

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; 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
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Genomic context

See HECTD4 in Genome Data Viewer
Location:
12q24.13
Exon count:
76
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (112160195..112382431, complement)
110 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 Sharpr-MPRA regulatory region 5940 Neighboring gene TRAF-type zinc finger domain containing 1 Neighboring gene microRNA 6861 Neighboring gene RN7SK pseudogene 71 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 2 pseudogene Neighboring gene ribosomal protein L7a pseudogene 60 Neighboring gene uncharacterized LOC124903023 Neighboring gene ribosomal protein L6 Neighboring gene protein tyrosine phosphatase non-receptor type 11

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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

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_001109662.4NP_001103132.4  probable E3 ubiquitin-protein ligase HECTD4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC004031, AC004086, AC004217, AC073575
    Related
    ENSP00000449784.2, ENST00000550722.5
  2. NM_001388303.1NP_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
    Related
    ENSP00000507687.1, ENST00000682272.1
    Conserved Domains (2) summary
    cd00078
    Location:40194413
    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:23992554
    SPRY_HECT_like; SPRY domain in HECT E3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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.