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 E1 ubiquitin-activating enzy... See more...

Aliases for UBA7 Gene

Aliases for UBA7 Gene

  • Ubiquitin Like Modifier Activating Enzyme 7 2 3 5
  • UBE2 2 3 4
  • D8 2 3 4
  • Ubiquitin-Like Modifier-Activating Enzyme 7 3 4
  • Ubiquitin-Activating Enzyme E1 Homolog 3 4
  • UBA7, Ubiquitin-Activating Enzyme E1 2 3
  • Ubiquitin-Activating Enzyme 7 3 4
  • UBA1B 2 3
  • UBE1L 3 4
  • UBA1, Ubiquitin-Activating Enzyme E1 Homolog B (Yeast) 2
  • UBA1, Ubiquitin-Activating Enzyme E1 Homolog B 3
  • Ubiquitin-Activating Enzyme E1-Related Protein 3
  • Ubiquitin-Like Modifier Activating Enzyme 7 2
  • Ubiquitin-Activating Enzyme E1-Like 2
  • Ubiquitin-Activating Enzyme-2 3
  • UBA7 5

External Ids for UBA7 Gene

Previous HGNC Symbols for UBA7 Gene

  • UBE1L

Previous GeneCards Identifiers for UBA7 Gene

  • GC03M049818
  • GC03M049844
  • GC03M049848

Summaries for UBA7 Gene

Entrez Gene Summary for UBA7 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 E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for UBA7 Gene

UBA7 (Ubiquitin Like Modifier Activating Enzyme 7) is a Protein Coding gene. Diseases associated with UBA7 include Acute Promyelocytic Leukemia and Lung Cancer. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and ubiquitin activating enzyme activity. An important paralog of this gene is UBA1.

UniProtKB/Swiss-Prot Summary for UBA7 Gene

  • Activates ubiquitin by first adenylating with ATP its C-terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Catalyzes the ISGylation of influenza A virus NS1 protein.

Gene Wiki entry for UBA7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBA7 Gene

Genomics for UBA7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBA7 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 UBA7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBA7

Top Transcription factor binding sites by QIAGEN in the UBA7 gene promoter:
  • AML1a
  • GR
  • GR-alpha
  • GR-beta
  • MyoD
  • NF-1
  • NF-1/L
  • Pax-5

Genomic Locations for UBA7 Gene

Latest Assembly
chr3:49,805,205-49,813,953
(GRCh38/hg38)
Size:
8,749 bases
Orientation:
Minus strand

Previous Assembly
chr3:49,842,642-49,851,386
(GRCh37/hg19 by Entrez Gene)
Size:
8,745 bases
Orientation:
Minus strand

chr3:49,842,640-49,851,379
(GRCh37/hg19 by Ensembl)
Size:
8,740 bases
Orientation:
Minus strand

Genomic View for UBA7 Gene

Genes around UBA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA7 Gene

Proteins for UBA7 Gene

  • Protein details for UBA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41226-UBA7_HUMAN
    Recommended name:
    Ubiquitin-like modifier-activating enzyme 7
    Protein Accession:
    P41226
    Secondary Accessions:
    • Q9BRB2

    Protein attributes for UBA7 Gene

    Size:
    1012 amino acids
    Molecular mass:
    111694 Da
    Quaternary structure:
    • Monomer (By similarity). Binds and is involved in the conjugation of G1P2/ISG15.
    Miscellaneous:
    • There are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site.

neXtProt entry for UBA7 Gene

Post-translational modifications for UBA7 Gene

Other Protein References for UBA7 Gene

No data available for DME Specific Peptides for UBA7 Gene

Domains & Families for UBA7 Gene

Gene Families for UBA7 Gene

Suggested Antigen Peptide Sequences for UBA7 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-activating enzyme E1 homolog (UBA7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41226

UniProtKB/Swiss-Prot:

UBA7_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 UBA7: view

Function for UBA7 Gene

Molecular function for UBA7 Gene

UniProtKB/Swiss-Prot Function:
Activates ubiquitin by first adenylating with ATP its C-terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Catalyzes the ISGylation of influenza A virus NS1 protein.

Phenotypes From GWAS Catalog for UBA7 Gene

Gene Ontology (GO) - Molecular Function for UBA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004842 ubiquitin-protein transferase activity EXP 18583345
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0008641 ubiquitin-like modifier activating enzyme activity IEA --
genes like me logo Genes that share ontologies with UBA7: view
genes like me logo Genes that share phenotypes with UBA7: view

miRNA for UBA7 Gene

miRTarBase miRNAs that target UBA7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBA7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBA7 Gene

Localization for UBA7 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 UBA7 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UBA7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UBA7 Gene

Pathways & Interactions for UBA7 Gene

genes like me logo Genes that share pathways with UBA7: view

UniProtKB/Swiss-Prot P41226-UBA7_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IDA 16428300
GO:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0016567 protein ubiquitination IEA --
GO:0018215 protein phosphopantetheinylation IEA --
GO:0019941 modification-dependent protein catabolic process IEA --
genes like me logo Genes that share ontologies with UBA7: view

No data available for SIGNOR curated interactions for UBA7 Gene

Drugs & Compounds for UBA7 Gene

(4) Drugs for UBA7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(3) Additional Compounds for UBA7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with UBA7: view

Transcripts for UBA7 Gene

mRNA/cDNA for UBA7 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBA7

Alternative Splicing Database (ASD) splice patterns (SP) for UBA7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^
SP1: - -
SP2:
SP3: - - - - - -
SP4: -
SP5:
SP6:
SP7:
SP8: - -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14: -

ExUns: 18 ^ 19a · 19b · 19c · 19d ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3: - - - - - - -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:

Relevant External Links for UBA7 Gene

GeneLoc Exon Structure for
UBA7

Expression for UBA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBA7 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.8) and Platelet (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBA7 Gene



Protein tissue co-expression partners for UBA7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBA7

SOURCE GeneReport for Unigene cluster for UBA7 Gene:

Hs.16695

mRNA Expression by UniProt/SwissProt for UBA7 Gene:

P41226-UBA7_HUMAN
Tissue specificity: Expressed in a variety of normal and tumor cell types, but is reduced in lung cancer cell lines.

Evidence on tissue expression from TISSUES for UBA7 Gene

  • Blood(4.6)
  • Liver(4.4)
  • Eye(4.2)
  • Spleen(2.7)
  • Lymph node(2.7)
  • Lung(2.6)
  • Intestine(2.5)
  • Bone marrow(2.4)
  • Skin(2.3)
  • Kidney(2.3)
  • Nervous system(2.2)
  • Muscle(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with UBA7: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBA7 Gene

Orthologs for UBA7 Gene

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

Orthologs for UBA7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBA7 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBA7 29 30
  • 84.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBA7 29 30
  • 82.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Uba7 29 16 30
  • 80.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uba7 29
  • 79.11 (n)
Oppossum
(Monodelphis domestica)
Mammalia UBA7 30
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UBA7 30
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UBA7 30
  • 46 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBA7 30
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii uba7 30
  • 43 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Uba1 30
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea uba-1 30
  • 33 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA1 30
  • 37 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToMany
Species where no ortholog for UBA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for UBA7 Gene

ENSEMBL:
Gene Tree for UBA7 (if available)
TreeFam:
Gene Tree for UBA7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBA7: view image
Alliance of Genome Resources:
Additional Orthologs for UBA7

Paralogs for UBA7 Gene

Paralogs for UBA7 Gene

(2) SIMAP similar genes for UBA7 Gene using alignment to 1 proteins:

  • UBA7_HUMAN
genes like me logo Genes that share paralogs with UBA7: view

Variants for UBA7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBA7 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
981909 Uncertain Significance: Intellectual disability 49,809,812(-) T/C
NM_003335.3(UBA7):c.1904+3A>G
INTRON
rs116746221 Likely Benign: not provided 49,813,085(-) C/T
NM_003335.3(UBA7):c.444G>A (p.Ala148=)
SYNONYMOUS
rs141482367 Benign: not provided 49,809,100(-) C/A
NM_003335.3(UBA7):c.2223G>T (p.Leu741=)
SYNONYMOUS
rs2230149 Benign: not provided 49,808,093(-) T/Cp.His817Arg
NM_003335.3(UBA7):c.2450A>G (p.His817Arg)
MISSENSE
rs61760190 Likely Benign: not provided 49,807,819(-) G/A
NM_003335.3(UBA7):c.2632C>T (p.Arg878Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UBA7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UBA7 Gene

Variant ID Type Subtype PubMed ID
nsv834688 CNV loss 17160897

Variation tolerance for UBA7 Gene

Residual Variation Intolerance Score: 69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBA7 Gene

Human Gene Mutation Database (HGMD)
UBA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBA7
Leiden Open Variation Database (LOVD)
UBA7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBA7 Gene

Disorders for UBA7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBA7 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
acute promyelocytic leukemia
  • apl
lung cancer
  • lung cancer, susceptibility to
hutchinson-gilford progeria syndrome
  • hgps
- elite association - COSMIC cancer census association via MalaCards
Search UBA7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBA7

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UBA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBA7 Gene

Publications for UBA7 Gene

  1. A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme. (PMID: 8327486) Kok K … Carritt B (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4
  2. Covalent protein modification with ISG15 via a conserved cysteine in the hinge region. (PMID: 22693631) Bade VN … Praefcke GJ (PloS one 2012) 3 4
  3. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PMID: 20307617) Morgan AR … Ferguson LR (Human immunology 2010) 3 40
  4. Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. (PMID: 20601676) Fransen K … Weersma RK (Human molecular genetics 2010) 3 40
  5. ISG15 Arg151 and the ISG15-conjugating enzyme UbE1L are important for innate immune control of Sindbis virus. (PMID: 19073728) Giannakopoulos NV … Virgin HW (Journal of virology 2009) 3 22

Products for UBA7 Gene

Sources for UBA7 Gene