• Gene id: 7318

Gene Summary

• Gene Symbol: UBA7   Gene   UCSC   Ensembl
• Aliases: D8, UBA1B, UBE1L, UBE2
• Gene name: ubiquitin like modifier activating enzyme 7
• Alternate names: ubiquitin-like modifier-activating enzyme 7, UBA1, ubiquitin-activating enzyme E1 homolog B, UBA7, ubiquitin-activating enzyme E1, ubiquitin-activating enzyme 7, ubiquitin-activating enzyme E1 homolog, ubiquitin-activating enzyme E1-related protein, ubiquitin-a,
• Gene location: 3p21.31 (97869063: 98036723)     Exons: 19     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 191325

Protein Summary

• Protein general information: P41226  
  • Name: Ubiquitin like modifier activating enzyme 7 (Ubiquitin activating enzyme 7) (D8) (Ubiquitin activating enzyme E1 homolog)
  • Length: 1012  
  • Mass: 111694
  • Tissue specificity: Expressed in a variety of normal and tumor cell types, but is reduced in lung cancer cell lines.
• Sequence:

  MDALDASKLLDEELYSRQLYVLGSPAMQRIQGARVLVSGLQGLGAEVAKNLVLMGVGSLTLHDPHPTCWSDLAAQ
  FLLSEQDLERSRAEASQELLAQLNRAVQVVVHTGDITEDLLLDFQVVVLTAAKLEEQLKVGTLCHKHGVCFLAAD
  TRGLVGQLFCDFGEDFTVQDPTEAEPLTAAIQHISQGSPGILTLRKGANTHYFRDGDLVTFSGIEGMVELNDCDP
  RSIHVREDGSLEIGDTTTFSRYLRGGAITEVKRPKTVRHKSLDTALLQPHVVAQSSQEVHHAHCLHQAFCALHKF
  QHLHGRPPQPWDPVDAETVVGLARDLEPLKRTEEEPLEEPLDEALVRTVALSSAGVLSPMVAMLGAVAAQEVLKA
  ISRKFMPLDQWLYFDALDCLPEDGELLPSPEDCALRGSRYDGQIAVFGAGFQEKLRRQHYLLVGAGAIGCELLKV
  FALVGLGAGNSGGLTVVDMDHIERSNLSRQFLFRSQDVGRPKAEVAAAAARGLNPDLQVIPLTYPLDPTTEHIYG
  DNFFSRVDGVAAALDSFQARRYVAARCTHYLKPLLEAGTSGTWGSATVFMPHVTEAYRAPASAAASEDAPYPVCT
  VRYFPSTAEHTLQWARHEFEELFRLSAETINHHQQAHTSLADMDEPQTLTLLKPVLGVLRVRPQNWQDCVAWALG
  HWKLCFHYGIKQLLRHFPPNKVLEDGTPFWSGPKQCPQPLEFDTNQDTHLLYVLAAANLYAQMHGLPGSQDWTAL
  RELLKLLPQPDPQQMAPIFASNLELASASAEFGPEQQKELNKALEVWSVGPPLKPLMFEKDDDSNFHVDFVVAAA
  SLRCQNYGIPPVNRAQSKRIVGQIIPAIATTTAAVAGLLGLELYKVVSGPRPRSAFRHSYLHLAENYLIRYMPFA
  PAIQTFHHLKWTSWDRLKVPAGQPERTLESLLAHLQEQHGLRVRILLHGSALLYAAGWSPEKQAQHLPLRVTELV
  QQLTGQAPAPGQRVLVLELSCEGDDEDTAFPPLHYEL

• Structural information:
  • Interpro: IPR032420  IPR032418  IPR042302  IPR000594  IPR018965   IPR042449  IPR038252  IPR019572  IPR042063  IPR035985  IPR018075  IPR033127  IPR000011  
  • Prosite: PS00865
  • DIP: 60526
  • STRING: ENSP00000333266
• Other Databases: GeneCards:  UBA7  Malacards:  UBA7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006464	cellular protein modification process	IDA	biological process
GO:0019782	ISG15 activating enzyme activity	IDA	molecular function
GO:0032020	ISG15-protein conjugation	IDA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0032020	ISG15-protein conjugation	IBA	biological process
GO:0019782	ISG15 activating enzyme activity	IBA	molecular function
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0006464	cellular protein modification process	IEA	biological process
GO:0008641	ubiquitin-like modifier activating enzyme activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004842	ubiquitin-protein transferase activity	EXP	molecular function
GO:0004842	ubiquitin-protein transferase activity	EXP	molecular function
GO:0032480	negative regulation of type I interferon production	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032020	ISG15-protein conjugation	IEA	biological process
GO:0019941	modification-dependent protein catabolic process	IEA	biological process
GO:0019782	ISG15 activating enzyme activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881