• Gene id: 79876

Gene Summary

• Gene Symbol: UBA5   Gene   UCSC   Ensembl
• Aliases: EIEE44, SCAR24, THIFP1, UBE1DC1
• Gene name: ubiquitin like modifier activating enzyme 5
• Alternate names: ubiquitin-like modifier-activating enzyme 5, UBA5, ubiquitin-activating enzyme E1 homolog, UFM1-activating enzyme, ubiquitin-activating enzyme 5, ubiquitin-activating enzyme E1 domain-containing protein 1, ubiquitin-activating enzyme E1-domain containing 1,
• Gene location: 3q22.1 (132654445: 132679785)     Exons: 13     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing r
• OMIM: 610552

Protein Summary

• Protein general information: Q9GZZ9  
  • Name: Ubiquitin like modifier activating enzyme 5 (Ubiquitin activating enzyme 5) (ThiFP1) (UFM1 activating enzyme) (Ubiquitin activating enzyme E1 domain containing protein 1)
  • Length: 404  
  • Mass: 44863
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAESVERLQQRVQELERELAQERSLQVPRSGDGGGGRVRIEKMSSEVVDSNPYSRLMALKRMGIVSDYEKIRTFA
  VAIVGVGGVGSVTAEMLTRCGIGKLLLFDYDKVELANMNRLFFQPHQAGLSKVQAAEHTLRNINPDVLFEVHNYN
  ITTVENFQHFMDRISNGGLEEGKPVDLVLSCVDNFEARMTINTACNELGQTWMESGVSENAVSGHIQLIIPGESA
  CFACAPPLVVAANIDEKTLKREGVCAASLPTTMGVVAGILVQNVLKFLLNFGTVSFYLGYNAMQDFFPTMSMKPN
  PQCDDRNCRKQQEEYKKKVAALPKQEVIQEEEEIIHEDNEWGIELVSEVSEEELKNFSGPVPDLPEGITVAYTIP
  KKQEDSVTELTVEDSGESLEDLMAKMKNM

• Structural information:
  • Interpro: IPR029752  IPR000594  IPR035985  
  • PDB: 3GUC 3H8V 5HKH 5IA8 5IAA 5L95 6H77 6H78 6H8C
  • PDBsum: 3GUC 3H8V 5HKH 5IA8 5IAA 5L95 6H77 6H78 6H8C
  • STRING: ENSP00000348565
• Other Databases: GeneCards:  UBA5  Malacards:  UBA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071569	protein ufmylation	IBA	biological process
GO:0071566	UFM1 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:0005829	cytosol	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:1990592	protein K69-linked ufmylation	IDA	biological process
GO:0071569	protein ufmylation	IDA	biological process
GO:0071566	UFM1 activating enzyme activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0033146	regulation of intracellular estrogen receptor signaling pathway	IMP	biological process
GO:0071569	protein ufmylation	IMP	biological process
GO:0071566	UFM1 activating enzyme activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008641	ubiquitin-like modifier activating enzyme activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0071569	protein ufmylation	IMP	biological process
GO:0005737	cytoplasm	IDA	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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071566	UFM1 activating enzyme activity	IEA	molecular function
GO:0071569	protein ufmylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0050905	neuromuscular process	IGI	biological process

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881