• Gene id: 10422

Gene Summary

• Gene Symbol: UBAC1   Gene   UCSC   Ensembl
• Aliases: GBDR1, KPC2, UBADC1
• Gene name: UBA domain containing 1
• Alternate names: ubiquitin-associated domain-containing protein 1, E3 ubiquitin-protein ligase subunit KPC2, Kip1 ubiquitination-promoting complex subunit 2, UBA domain-containing protein 1, glialblastoma cell differentiation-related protein 1, kip1 ubiquitination-promoting co,
• Gene location: 9q34.3 (135961372: 135932968)     Exons: 10     NC_000009.12
• OMIM: 0

Protein Summary

• Protein general information: Q9BSL1  
  • Name: Ubiquitin associated domain containing protein 1 (UBA domain containing protein 1) (E3 ubiquitin protein ligase subunit KPC2) (Glialblastoma cell differentiation related protein 1) (Kip1 ubiquitination promoting complex protein 2)
  • Length: 405  
  • Mass: 45338
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MFVQEEKIFAGKVLRLHICASDGAEWLEEATEDTSVEKLKERCLKHCAHGSLEDPKSITHHKLIHAASERVLSDA
  RTILEENIQDQDVLLLIKKRAPSPLPKMADVSAEEKKKQDQKAPDKEAILRATANLPSYNMDRAAVQTNMRDFQT
  ELRKILVSLIEVAQKLLALNPDAVELFKKANAMLDEDEDERVDEAALRQLTEMGFPENRATKALQLNHMSVPQAM
  EWLIEHAEDPTIDTPLPGQAPPEAEGATAAASEAAAGASATDEEARDELTEIFKKIRRKREFRADARAVISLMEM
  GFDEKEVIDALRVNNNQQNAACEWLLGDRKPSPEELDKGIDPDSPLFQAILDNPVVQLGLTNPKTLLAFEDMLEN
  PLNSTQWMNDPETGPVMLQISRIFQTLNRT

• Structural information:
  • Protein Domains: (14..9-)
    (/note="Ubiquitin-like-)
    (187..23-)
    (/note="UBA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212-)
    (288..32-)
    (/note="UBA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212-)
    (353..39-)
    (/note="STI1"-)
  • Interpro: IPR006636  IPR015940  IPR009060  IPR041926  IPR041927   IPR029071  
  • Prosite: PS50030
  • CDD: cd14303 cd14304
  • PDB: 2DAI
  • PDBsum: 2DAI
  • DIP: 47279
  • STRING: ENSP00000360821
• Other Databases: GeneCards:  UBAC1  Malacards:  UBAC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	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: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:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq