• Gene id: 51569

Gene Summary

• Gene Symbol: UFM1   Gene   UCSC   Ensembl
• Aliases: BM-002, C13orf20, HLD14
• Gene name: ubiquitin fold modifier 1
• Alternate names: ubiquitin-fold modifier 1,
• Gene location: 13q13.3 (38349850: 38363618)     Exons: 8     NC_000013.11
• Gene summary(Entrez): UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al.
• OMIM: 610553

Protein Summary

• Protein general information: P61960  
  • Name: Ubiquitin fold modifier 1
  • Length: 85  
  • Mass: 9118
• Sequence:

  MSKVSFKITLTSDPRLPYKVLSVPESTPFTAVLKFAAEEFKVPAATSAIITNDGIGINPAQTAGNVFLKHGSELR
  IIPRDRVGSC

• Structural information:
  • Interpro: IPR029071  IPR005375  
  • PDB: 1WXS 5HKH 5IA7 5IA8 5IAA 5L95 6H77
  • PDBsum: 1WXS 5HKH 5IA7 5IA8 5IAA 5L95 6H77
  • STRING: ENSP00000368970
• Other Databases: GeneCards:  UFM1  Malacards:  UFM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0042308	negative regulation of protein import into nucleus	IMP	biological process
GO:1990592	protein K69-linked ufmylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0071569	protein ufmylation	IDA	biological process
GO:0033146	regulation of intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1990592	protein K69-linked ufmylation	IDA	biological process
GO:0071569	protein ufmylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007420	brain development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071569	protein ufmylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
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:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0071569	protein ufmylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)