UBA7 (ubiquitin like modifier activating enzyme 7)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7318
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin like modifier activating enzyme 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBA7
Synonyms (NCBI Gene) Gene synonyms aliases
D8, UBA1B, UBE1L, UBE2, UBE7
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez 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-conju
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
miRTarBase ID miRNA Experiments Reference
MIRT732231 hsa-miR-455-5p Luciferase reporter assay, qRT-PCR, Western blot 27235675
MIRT732231 hsa-miR-455-5p Luciferase reporter assay, qRT-PCR, Western blot 27235675
MIRT1466655 hsa-miR-4265 CLIP-seq
MIRT1466656 hsa-miR-4296 CLIP-seq
MIRT1466657 hsa-miR-4318 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
PML Repression 11891284
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004842 Function Ubiquitin-protein transferase activity EXP 18583345, 19073728
GO:0005515 Function Protein binding IPI 16189514, 17597759, 25416956, 32296183, 32814053, 33961781
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191325 12471 ENSG00000182179
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P41226
Protein name Ubiquitin-like modifier-activating enzyme 7 (Ubiquitin-activating enzyme 7) (EC 6.2.1.-) (D8) (Ubiquitin-activating enzyme E1 homolog)
Protein function E1-activating enzyme that catalyzes the covalent conjugation of the ubiquitin-like protein product of ISG15 to additional interferon stimulated proteins (ISGs) as well as other cellular proteins such as P53 in a process termed protein ISGylation
PDB 8OIF , 8SE9 , 8SEA , 8SEB , 8SV8 , 8WWX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00899 ThiF 15 → 410 ThiF family Domain
PF16190 E1_FCCH 187 → 258 Ubiquitin-activating enzyme E1 FCCH domain Domain
PF16191 E1_4HB 259 → 327 Ubiquitin-activating enzyme E1 four-helix bundle Domain
PF00899 ThiF 415 → 910 ThiF family Domain
PF10585 UBA_e1_thiolCys 605 → 843 Ubiquitin-activating enzyme active site Domain
PF09358 E1_UFD 914 → 1008 Ubiquitin fold domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of normal and tumor cell types, but is reduced in lung cancer cell lines.
Sequence 
MDALDASKLLDEELYSRQLYVLGSPAMQRIQGARVLVSGLQGLGAEVAKNLVLMGVGSLT
LHDPHPTCWSDLAAQFLLSEQDLERSRAEASQELLAQLNRAVQVVVHTGDITEDLLLDFQ
VVVLTAAKLEEQLKVGTLCHKHGVCFLAADTRGLVGQLFCDFGEDFTVQDPTEAEPLTAA
IQHISQGSPGILTLRKGANTHYFRDGDLVTFSGIEGMVELNDCDPRSIHVREDGSLEIGD
TTTFSRYLRGGAITEVKRPKTVRHKSLDTALLQPHVVAQSSQEVHHAHCLHQAFCALHKF
QHLHGRPPQPWDPVDAETVVGLARDLEPLKRTEEEPLEEPLDEALVRTVALSSAGVLSPM
VAMLGAVAAQEVLKAISRKFMPLDQWLYFDALDCLPEDGELLPSPEDCALRGSRYDGQIA
VFGAGFQEKLRRQHYLLVGAGAIGCELLKVFALVGLGAGNSGGLTVVDMDHIERSNLSRQ
FLFRSQDVGRPKAEVAAAAARGLNPDLQVIPLTYPLDPTTEHIYGDNFFSRVDGVAAALD
SFQARRYVAARCTHYLKPLLEAGTSGTWGSATVFMPHVTEAYRAPASAAASEDAPYPVCT
VRYFPSTAEHTLQWARHEFEELFRLSAETINHHQQAHTSLADMDEPQTLTLLKPVLGVLR
VRPQNWQDCVAWALGHWKLCFHYGIKQLLRHFPPNKVLEDGTPFWSGPKQCPQPLEFDTN
QDTHLLYVLAAANLYAQMHGLPGSQDWTALRELLKLLPQPDPQQMAPIFASNLELASASA
EFGPEQQKELNKALEVWSVGPPLKPLMFEKDDDSNFHVDFVVAAASLRCQNYGIPPVNRA
QSKRIVGQIIPAIATTTAAVAGLLGLELYKVVSGPRPRSAFRHSYLHLAENYLIRYMPFA
PAIQTFHHLKWTSWDRLKVPAGQPERTLESLLAHLQEQHGLRVRILLHGSALLYAAGWSP
EKQAQHLPLRVTELVQQLTGQAPAPGQRVLVLELSCEGDDEDTAFPPLHYEL
Sequence length 1012
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Ubiquitin mediated proteolysis
Parkinson disease
Pathways of neurodegeneration - multiple diseases 		  ISG15 antiviral mechanism
DDX58/IFIH1-mediated induction of interferon-alpha/beta
Termination of translesion DNA synthesis
Negative regulators of DDX58/IFIH1 signaling
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39684409
Carcinogenesis Associate 19074853
Carcinoma Renal Cell Associate 39871215
Diabetes Mellitus Type 2 Associate 26606528
Endometrial Neoplasms Associate 37803076
Head and Neck Neoplasms Associate 36010616
Inflammation Associate 39684409
Inflammatory Bowel Diseases Associate 25766683
Leukemia Lymphocytic Chronic B Cell Associate 40158006
Lung Neoplasms Associate 19074853, 7734949