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Aliases for UBE2H Gene

Aliases for UBE2H Gene

  • Ubiquitin Conjugating Enzyme E2 H 2 3
  • Ubiquitin-Conjugating Enzyme E2H (Homologous To Yeast UBC8) 2 3
  • Ubiquitin-Conjugating Enzyme E2H (UBC8 Homolog, Yeast) 2 3
  • (E3-Independent) E2 Ubiquitin-Conjugating Enzyme H 3 4
  • Ubiquitin-Conjugating Enzyme E2-20K 3 4
  • E2 Ubiquitin-Conjugating Enzyme H 3 4
  • Ubiquitin Conjugating Enzyme E2H 3 5
  • Ubiquitin Carrier Protein H 3 4
  • Ubiquitin-Protein Ligase H 3 4
  • UBCH2 3 4
  • GID Complex Subunit 3, UBC8 Homolog 3
  • Ubiquitin-Conjugating Enzyme E2H 2
  • UBC8 Homolog (S. Cerevisiae) 2
  • GID Complex Subunit 3 2
  • EC 6.3.2.19 63
  • EC 2.3.2.23 4
  • EC 2.3.2.24 4
  • E2-20K 3
  • GID3 3
  • UBC8 3
  • UBCH 3

External Ids for UBE2H Gene

Previous GeneCards Identifiers for UBE2H Gene

  • GC07M127950
  • GC07M129009
  • GC07M129026
  • GC07M129064
  • GC07M129257
  • GC07M129470
  • GC07M123834

Summaries for UBE2H Gene

Entrez Gene Summary for UBE2H Gene

  • The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]

GeneCards Summary for UBE2H Gene

UBE2H (Ubiquitin Conjugating Enzyme E2 H) is a Protein Coding gene. Diseases associated with UBE2H include autistic disorder. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Ubiquitination Cascade Pathway. GO annotations related to this gene include ligase activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for UBE2H Gene

  • Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes Lys-11- and Lys-48-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A.

Gene Wiki entry for UBE2H Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE2H Gene

Genomics for UBE2H Gene

Regulatory Elements for UBE2H Gene

Enhancers for UBE2H Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UBE2H on UCSC Golden Path with GeneCards custom track

Promoters for UBE2H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBE2H on UCSC Golden Path with GeneCards custom track

Genomic Location for UBE2H Gene

Chromosome:
7
Start:
129,830,732 bp from pter
End:
129,952,960 bp from pter
Size:
122,229 bases
Orientation:
Minus strand

Genomic View for UBE2H Gene

Genes around UBE2H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2H Gene

Proteins for UBE2H Gene

  • Protein details for UBE2H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62256-UBE2H_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 H
    Protein Accession:
    P62256
    Secondary Accessions:
    • A4D1L6
    • C9JY93
    • P37286
    • Q7Z6F4

    Protein attributes for UBE2H Gene

    Size:
    183 amino acids
    Molecular mass:
    20655 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for UBE2H Gene

    Alternative splice isoforms for UBE2H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBE2H Gene

Proteomics data for UBE2H Gene at MOPED

Selected DME Specific Peptides for UBE2H Gene

Post-translational modifications for UBE2H Gene

  • Ubiquitination at Lys 60, Lys 64, and Lys 147
  • Modification sites at PhosphoSitePlus

Other Protein References for UBE2H Gene

Antibody Products

Domains & Families for UBE2H Gene

Gene Families for UBE2H Gene

Protein Domains for UBE2H Gene

Suggested Antigen Peptide Sequences for UBE2H Gene

Graphical View of Domain Structure for InterPro Entry

P62256

UniProtKB/Swiss-Prot:

UBE2H_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family.
genes like me logo Genes that share domains with UBE2H: view

Function for UBE2H Gene

Molecular function for UBE2H Gene

GENATLAS Biochemistry:
ubiquitin conjugating enzyme H2A,homolog to yeast UBC8
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes Lys-11- and Lys-48-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A.

Enzyme Numbers (IUBMB) for UBE2H Gene

Gene Ontology (GO) - Molecular Function for UBE2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 20061386
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with UBE2H: view
genes like me logo Genes that share phenotypes with UBE2H: view

Animal Models for UBE2H Gene

MGI Knock Outs for UBE2H:

Animal Model Products

  • Taconic Biosciences Mouse Models for UBE2H

miRNA for UBE2H Gene

miRTarBase miRNAs that target UBE2H

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBE2H Gene

Localization for UBE2H Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBE2H Gene COMPARTMENTS Subcellular localization image for UBE2H gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for UBE2H Gene

Pathways & Interactions for UBE2H Gene

genes like me logo Genes that share pathways with UBE2H: view

UniProtKB/Swiss-Prot P62256-UBE2H_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IEA --
GO:0070979 protein K11-linked ubiquitination IDA 20061386
genes like me logo Genes that share ontologies with UBE2H: view

No data available for SIGNOR curated interactions for UBE2H Gene

Drugs & Compounds for UBE2H Gene

(3) Drugs for UBE2H Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for UBE2H Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with UBE2H: view

Transcripts for UBE2H Gene

Unigene Clusters for UBE2H Gene

Ubiquitin-conjugating enzyme E2H:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2H Gene

No ASD Table

Relevant External Links for UBE2H Gene

GeneLoc Exon Structure for
UBE2H
ECgene alternative splicing isoforms for
UBE2H

Expression for UBE2H Gene

mRNA expression in normal human tissues for UBE2H Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBE2H Gene



SOURCE GeneReport for Unigene cluster for UBE2H Gene Hs.643548

genes like me logo Genes that share expression patterns with UBE2H: view

Protein tissue co-expression partners for UBE2H Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UBE2H Gene

Orthologs for UBE2H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2H Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBE2H 35
  • 95.08 (n)
  • 100 (a)
UBE2H 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBE2H 35
  • 96.72 (n)
  • 100 (a)
UBE2H 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ube2h 35
  • 93.81 (n)
  • 100 (a)
Ube2h 16
Gm2058 36
  • 99 (a)
OneToMany
Ube2h 36
  • 100 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia UBE2H 35
  • 99.82 (n)
  • 100 (a)
UBE2H 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ube2h 35
  • 93.62 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia UBE2H 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBE2H 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBE2H 35
  • 89.25 (n)
  • 100 (a)
UBE2H 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE2H 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5927 35
ube2h 35
  • 87.07 (n)
  • 98.91 (a)
African clawed frog
(Xenopus laevis)
Amphibia ube2h-prov 35
zebrafish
(Danio rerio)
Actinopterygii ube2h 35
  • 82.33 (n)
  • 98.36 (a)
wufc07a05 35
ube2h 36
  • 98 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1397 35
fruit fly
(Drosophila melanogaster)
Insecta CG14739 37
  • 43 (a)
Ubc-E2H 37
  • 78 (a)
Ubc-E2H 35
  • 65.76 (n)
  • 78.69 (a)
Ubc-E2H 36
  • 79 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001068 35
  • 70.15 (n)
  • 83.52 (a)
worm
(Caenorhabditis elegans)
Secernentea ubc-8 37
  • 56 (a)
ubc-8 35
  • 62.58 (n)
  • 67.74 (a)
ubc-8 36
  • 52 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL045W 35
  • 55.7 (n)
  • 60.13 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11198g 35
  • 58.28 (n)
  • 60 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBC8 35
  • 58.99 (n)
  • 59.21 (a)
UBC8 36
  • 46 (a)
OneToOne
UBC8 38
thale cress
(Arabidopsis thaliana)
eudicotyledons UBC4 35
  • 63.5 (n)
  • 59.49 (a)
soybean
(Glycine max)
eudicotyledons Gma.18138 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7729 35
rice
(Oryza sativa)
Liliopsida Os10g0447100 35
  • 61.15 (n)
  • 61.87 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3173 35
bread mold
(Neurospora crassa)
Ascomycetes NCU10046 35
  • 64.79 (n)
  • 67.61 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubc8 35
  • 60.18 (n)
  • 62.42 (a)
Species with no ortholog for UBE2H:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBE2H Gene

ENSEMBL:
Gene Tree for UBE2H (if available)
TreeFam:
Gene Tree for UBE2H (if available)

Paralogs for UBE2H Gene

Pseudogenes.org Pseudogenes for UBE2H Gene

genes like me logo Genes that share paralogs with UBE2H: view

No data available for Paralogs for UBE2H Gene

Variants for UBE2H Gene

Sequence variations from dbSNP and Humsavar for UBE2H Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs873664 -- 129,830,327(-) CTGAT(C/T)TGCCT downstream-variant-500B
rs923231 -- 129,851,851(+) CTGAA(G/T)ATTTC intron-variant
rs1045894 -- 129,952,702(-) GGGGG(A/G)CGGCG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1045896 -- 129,952,677(-) GACCG(C/T)CGGGA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1045897 -- 129,952,670(-) GGGAC(A/C)GCGGG intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for UBE2H Gene

Variant ID Type Subtype PubMed ID
nsv366414 CNV Loss 16902084
nsv831129 CNV Loss 17160897
esv2735150 CNV Deletion 23290073
nsv510968 CNV Complex 20534489

Variation tolerance for UBE2H Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBE2H Gene

HapMap Linkage Disequilibrium report
UBE2H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2H Gene

Disorders for UBE2H Gene

MalaCards: The human disease database

(1) MalaCards diseases for UBE2H Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autistic disorder
  • autism
- elite association - COSMIC cancer census association via MalaCards
Search UBE2H in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBE2H

Genetic Association Database (GAD)
UBE2H
Human Genome Epidemiology (HuGE) Navigator
UBE2H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE2H
genes like me logo Genes that share disorders with UBE2H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2H Gene

Publications for UBE2H Gene

  1. A human ubiquitin-conjugating enzyme homologous to yeast UBC8. (PMID: 8132613) Kaiser P. … Schneider R. (J. Biol. Chem. 1994) 2 3 4 23 67
  2. Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder. (PMID: 14639049) Vourc'h P. … Andres C. (Psychiatr. Genet. 2003) 3 23
  3. Induction of ubiquitin-conjugating enzymes during terminal erythroid differentiation. (PMID: 7761435) Wefes I. … Finley D. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 23
  4. Mitsugumin 53 (MG53) ligase ubiquitinates focal adhesion kinase during skeletal myogenesis. (PMID: 24344130) Nguyen N. … Ko Y.G. (J. Biol. Chem. 2014) 3
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3

Products for UBE2H Gene

Sources for UBE2H Gene

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