Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[suppl... See more...

Aliases for UBA6 Gene

Aliases for UBA6 Gene

  • Ubiquitin Like Modifier Activating Enzyme 6 2 3 5
  • Ubiquitin-Activating Enzyme E1-Like Protein 2 3 4
  • Ubiquitin-Like Modifier-Activating Enzyme 6 3 4
  • Ubiquitin-Activating Enzyme E1-Like 2 2 3
  • UBA6, Ubiquitin-Activating Enzyme E1 2 3
  • Ubiquitin-Activating Enzyme 6 3 4
  • Monocyte Protein 4 3 4
  • UBE1L2 3 4
  • E1-L2 3 4
  • MOP-4 3 4
  • Ubiquitin-Like Modifier Activating Enzyme 6 2
  • EC 6.2.1.45 4
  • MOP4 4

External Ids for UBA6 Gene

Previous HGNC Symbols for UBA6 Gene

  • UBE1L2

Previous GeneCards Identifiers for UBA6 Gene

  • GC04M068167
  • GC04M068481
  • GC04M064394

Summaries for UBA6 Gene

Entrez Gene Summary for UBA6 Gene

  • Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]

GeneCards Summary for UBA6 Gene

UBA6 (Ubiquitin Like Modifier Activating Enzyme 6) is a Protein Coding gene. Diseases associated with UBA6 include Ichthyosis, Congenital, Autosomal Recessive 4A and Johanson-Blizzard Syndrome. Among its related pathways are Metabolism of proteins and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and FAT10 activating enzyme activity. An important paralog of this gene is UBA1.

UniProtKB/Swiss-Prot Summary for UBA6 Gene

  • Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility.

Gene Wiki entry for UBA6 Gene

Additional gene information for UBA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBA6 Gene

Genomics for UBA6 Gene

GeneHancer (GH) Regulatory Elements for UBA6 Gene

Promoters and enhancers for UBA6 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 UBA6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBA6

Top Transcription factor binding sites by QIAGEN in the UBA6 gene promoter:
  • AML1a
  • CUTL1
  • Elk-1
  • HTF
  • NF-kappaB1
  • NF-kappaB2
  • Nkx2-5
  • Pax-4a
  • RSRFC4
  • Zic1

Genomic Locations for UBA6 Gene

Genomic Locations for UBA6 Gene
chr4:67,612,652-67,701,171
(GRCh38/hg38)
Size:
88,520 bases
Orientation:
Minus strand
chr4:68,478,370-68,566,897
(GRCh37/hg19)
Size:
88,528 bases
Orientation:
Minus strand

Genomic View for UBA6 Gene

Genes around UBA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA6 Gene

Proteins for UBA6 Gene

  • Protein details for UBA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0AVT1-UBA6_HUMAN
    Recommended name:
    Ubiquitin-like modifier-activating enzyme 6
    Protein Accession:
    A0AVT1
    Secondary Accessions:
    • A6N8M7
    • B2RAV3
    • Q4W5K0
    • Q6UV21
    • Q86T78
    • Q86TC7
    • Q8N5T3
    • Q8N9E4
    • Q9H3T7
    • Q9NVC9

    Protein attributes for UBA6 Gene

    Size:
    1052 amino acids
    Molecular mass:
    117970 Da
    Quaternary structure:
    • Forms a thioester with UBD in cells stimulated with tumor necrosis factor-alpha (TNFa) and interferon-gamma (IFNg) (PubMed:17889673, PubMed:25422469).
    SequenceCaution:
    • Sequence=BAA91824.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for UBA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBA6 Gene

Post-translational modifications for UBA6 Gene

  • Ubiquitination at Lys544, Lys644, Lys652, Lys687, Lys729, Lys739, Lys830, and Lys889
  • Modification sites at PhosphoSitePlus

Other Protein References for UBA6 Gene

No data available for DME Specific Peptides for UBA6 Gene

Domains & Families for UBA6 Gene

Gene Families for UBA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for UBA6 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-activating enzyme E1-like protein 2 (UBA6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0AVT1

UniProtKB/Swiss-Prot:

UBA6_HUMAN :
  • Belongs to the ubiquitin-activating E1 family.
Family:
  • Belongs to the ubiquitin-activating E1 family.
genes like me logo Genes that share domains with UBA6: view

Function for UBA6 Gene

Molecular function for UBA6 Gene

UniProtKB/Swiss-Prot Function:
Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + ubiquitin + [E1 ubiquitin-activating enzyme]-L-cysteine = AMP + diphosphate + S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine.; EC=6.2.1.45; Evidence=. ;.

Enzyme Numbers (IUBMB) for UBA6 Gene

Phenotypes From GWAS Catalog for UBA6 Gene

Gene Ontology (GO) - Molecular Function for UBA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004839 ubiquitin activating enzyme activity IBA 21873635
GO:0005515 protein binding IPI 17889673
GO:0005524 ATP binding IEA --
GO:0008641 ubiquitin-like modifier activating enzyme activity IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with UBA6: view
genes like me logo Genes that share phenotypes with UBA6: view

Animal Models for UBA6 Gene

MGI Knock Outs for UBA6:

Animal Model Products

  • Taconic Biosciences Mouse Models for UBA6

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBA6 Gene

Localization for UBA6 Gene

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 UBA6 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UBA6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UBA6 Gene

Pathways & Interactions for UBA6 Gene

genes like me logo Genes that share pathways with UBA6: view

UniProtKB/Swiss-Prot A0AVT1-UBA6_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IMP,IBA 17889673
GO:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0007612 learning IEA --
GO:0007626 locomotory behavior IEA --
genes like me logo Genes that share ontologies with UBA6: view

No data available for SIGNOR curated interactions for UBA6 Gene

Drugs & Compounds for UBA6 Gene

(5) Drugs for UBA6 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
PYZD 4409 Pharma E1 enzyme inhibitor, Ubiquitin-activating enzyme (E1) inhibitor 0
PYR 41 Pharma Ubiquitin-activating enzyme (E1) inhibitor 0

(2) Additional Compounds for UBA6 Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
NSC 624206
13116-77-3

(3) Tocris Compounds for UBA6 Gene

Compound Action Cas Number
NSC 624206 Ubiquitin-activating enzyme (E1) inhibitor 13116-77-3
PYR 41 Ubiquitin-activating enzyme (E1) inhibitor 418805-02-4
PYZD 4409 Ubiquitin-activating enzyme (E1) inhibitor 423148-78-1

(1) ApexBio Compounds for UBA6 Gene

Compound Action Cas Number
PYZD-4409 E1 enzyme inhibitor 423148-78-1
genes like me logo Genes that share compounds with UBA6: view

Drug Products

Transcripts for UBA6 Gene

mRNA/cDNA for UBA6 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBA6 Gene

No ASD Table

Relevant External Links for UBA6 Gene

GeneLoc Exon Structure for
UBA6

Expression for UBA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBA6 Gene

Protein differential expression in normal tissues from HIPED for UBA6 Gene

This gene is overexpressed in Lymph node (12.6) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBA6 Gene



Protein tissue co-expression partners for UBA6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBA6

SOURCE GeneReport for Unigene cluster for UBA6 Gene:

Hs.212774

mRNA Expression by UniProt/SwissProt for UBA6 Gene:

A0AVT1-UBA6_HUMAN
Tissue specificity: Widely expressed. Isoform 2 is predominantly expressed in testis with higher expression in adult testis than in fetal testis.

Evidence on tissue expression from TISSUES for UBA6 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Blood(4.2)
  • Muscle(4.2)
  • Heart(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with UBA6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBA6 Gene

Orthologs for UBA6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UBA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBA6 31 30
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBA6 31 30
  • 92.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBA6 31 30
  • 92.05 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Uba6 17 31 30
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Uba6 30
  • 88.02 (n)
oppossum
(Monodelphis domestica)
Mammalia UBA6 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBA6 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBA6 31 30
  • 78.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBA6 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uba6 30
  • 73.21 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13897 30
zebrafish
(Danio rerio)
Actinopterygii si:dkey-82j4.2 30
  • 65.36 (n)
UBA6 31
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Uba1 31
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea uba-1 31
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA1 31
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for UBA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for UBA6 Gene

ENSEMBL:
Gene Tree for UBA6 (if available)
TreeFam:
Gene Tree for UBA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBA6: view image

Paralogs for UBA6 Gene

Paralogs for UBA6 Gene

(3) SIMAP similar genes for UBA6 Gene using alignment to 4 proteins:

  • UBA6_HUMAN
  • H0Y8S8_HUMAN
  • H0Y9U5_HUMAN
  • L8E8V3_HUMAN
genes like me logo Genes that share paralogs with UBA6: view

Variants for UBA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBA6 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
714617 Benign: not provided 67,696,711(-) G/GA INTRON_VARIANT
rs10010188 - p.Ala224Thr

Additional dbSNP identifiers (rs#s) for UBA6 Gene

Structural Variations from Database of Genomic Variants (DGV) for UBA6 Gene

Variant ID Type Subtype PubMed ID
esv3372953 CNV insertion 20981092
nsv1114541 CNV deletion 24896259

Variation tolerance for UBA6 Gene

Residual Variation Intolerance Score: 7.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.74; 83.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBA6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBA6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBA6 Gene

Disorders for UBA6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBA6 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search UBA6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBA6

genes like me logo Genes that share disorders with UBA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBA6 Gene

Publications for UBA6 Gene

  1. UBE1L2, a novel E1 enzyme specific for ubiquitin. (PMID: 17580310) Pelzer C … Groettrup M (The Journal of biological chemistry 2007) 2 3 23 54
  2. Disruption of FAT10-MAD2 binding inhibits tumor progression. (PMID: 25422469) Theng SS … Lee CG (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 54
  3. Dual E1 activation systems for ubiquitin differentially regulate E2 enzyme charging. (PMID: 17597759) Jin J … Harper JW (Nature 2007) 3 4 54
  4. E1-L2 activates both ubiquitin and FAT10. (PMID: 17889673) Chiu YH … Chen ZJ (Molecular cell 2007) 3 4 54
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54

Products for UBA6 Gene

Sources for UBA6 Gene