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FLASH GENE
Symbol UBE2H contributors: mct - updated : 20-03-2017
HGNC name ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
HGNC id 12484
Location 7q32.2      Physical location : 129.472.994 - 129.592.789
Synonym symbol(s) E2-20K, GID3, UBC8, UBCH, UBCH2
EC.number 2.3.2.23 /2.3.2.24
DNA
TYPE functioning gene
STRUCTURE 122.23 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • promoter region contains a functional NF-kappaB binding site
  • MAPPING cloned Y linked   status provisional
    Physical map
    LOC389553 7 hypothetical gene supported by AL137733 LOC389554 7 hypothetical gene supported by BC062355 LOC392095 7 similar to capicua homolog LOC346653 7q32.2 hypothetical protein LOC346653 NYD-SP18 7q32.2-q32.3 testes development-related NYD-SP18 CALU 7q32 calumenin OPN1SW 7q31.3-q32 opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) DKFZP434G156 7q33 hypothetical protein DKFZp434G156 FLNC 7q32 filamin C, gamma (actin binding protein 280) ATP6V1F 7q32 ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F LOC389555 7 similar to Filamin C (Gamma-filamin) (Filamin 2) (Protein FLNc) (Actin-binding like protein) (ABP-L) (ABP-280-like protein) IRF5 7q32 interferon regulatory factor 5 TNPO3 7q32.3 transportin 3 LOC392096 7 similar to Triosephosphate isomerase (TIM) HCP20 7q32.3 cytochrome c, somatic pseudogene LOC286017 7q32.3 similar to mitogen-activated protein kinase kinase 2; mitogen-activated protein kinase kinase 2, p45; MAP kinase kinase 2; MAPK/ERK kinase 2; dual specificity mitogen-activated protein kinase kinase 2; ERK activator kinase 2 MGC50844 7q32.3 hypothetical protein MGC50844 LOC154981 7q32.3 hypothetical LOC154981 SMO 7q31 smoothened homolog (Drosophila) KIAA0828 7q32.3 KIAA0828 protein KIAA1170 7q32.3 KIAA1170 protein NRF1 7q32 nuclear respiratory factor 1 UBE2H 7q32 ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) NIPA 7q32.3 nuclear interacting partner of anaplastic lymphoma kinase (ALK) KIAA0265 7q32.3 KIAA0265 protein LOC389556 7 LOC389556 FLJ14803 7q32.3 hypothetical protein FLJ14803 LOC136263 7q32.3 LOC136263 CPA2 7q32 carboxypeptidase A2 (pancreatic) CPA4 7q32 carboxypeptidase A4 CPA5 7q32 carboxypeptidase A5 CPA1 7q32 carboxypeptidase A1 (pancreatic) TSGA14 7q32 testis specific, 14 MEST 7q32 mesoderm specific transcript homolog (mouse) COPG2 7q32 coatomer protein complex, subunit gamma 2 TSGA13 7q32 testis specific, 13 KLF14 7q32.3 Kruppel-like factor 14 LOC347674 7q32 ALEX2 pseudogene LOC340349 7q32.3 hypothetical LOC340349 FLJ43663 7q32.3 hypothetical protein FLJ43663
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 5081 - 152 - 2000 10860668
    7 - 5174 - 183 - 2000 10860668
    7 - 4778 - 113 - 2000 10860668
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved UBC domain of 150AA harboring the cysteine residue required for enzyme-ubiquitin thioester formation
  • HOMOLOGY
    interspecies homolog to yeast UBC8
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • ubiquitin conjugating enzyme H2A
  • E2 enzyme of the ubiquitin-dependent proteolytic system
  • is an ubiquitin conjugating enzyme known to act on histones and cytoskeletal proteins, both involved in the degenerative pathway of the motor neuron
  • E2 enzyme UBE2H and the E3 enzyme TRIM72 were up-regulated during myogenesis
  • UBE2H and TRIM72 complexes are required for PTK2 ubiquitination and degradation
  • CELLULAR PROCESS cell cycle
    protein, degradation
    PHYSIOLOGICAL PROCESS development
    text brain
    PATHWAY
    metabolism
    signaling
    a component
  • PTK2 formed a complex with its E2 enzyme, UBE2H, and E3 enzyme, TRIM72
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activating PARK2
  • UBE2H is an E2 partner of TRIM72 for IRS1 ubiquitination
  • TAL1 expression activated UBE2H expression, whereas TAL1 knock-down reduced UBE2H expression and ubiquitin transfer activity
  • TRIM72 is an ubiquitin E3 ligase that induces IRS1 ubiquitination with the help of an E2-conjugating enzyme, UBE2H
  • TRIM72 induces PTK2 ubiquitination with the aid of UBE2H during skeletal myogenesis
  • cell & other
    REGULATION
    activated by PARK2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to autism with developmental quotient higher than 30
  • Variant & Polymorphism SNP
  • significant association was found between the G allele and a subgroup of autistic patients with developmental quotient higher than 30
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS