• Gene id: 92305

Gene Summary

• Gene Symbol: TMEM129   Gene   UCSC   Ensembl
• Aliases: D4S2561E
• Gene name: transmembrane protein 129, E3 ubiquitin ligase
• Alternate names: E3 ubiquitin-protein ligase TM129, RING-type E3 ubiquitin transferase TM129, transmembrane protein 129, E3 ubiquitin protein ligase,
• Gene location: 4p16.3 (1721372: 1715951)     Exons: 6     NC_000004.12
• OMIM: 615975

Protein Summary

• Protein general information: A0AVI4  
  • Name: E3 ubiquitin protein ligase TM129 (EC 2.3.2.27) (RING type E3 ubiquitin transferase TM129)
  • Length: 362  
  • Mass: 40464
• Sequence:

  MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMC
  LAASEKRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFR
  RIDKFATGAPGARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFD
  IWLNSTEYGELCEKLRAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKT
  CQEAATGECQQCYCRPMWCLTCMGKWFASRQDPLRPDTWLASRVPCPTCRARFCILDVCTVR

• Structural information:
  • Interpro: IPR018801  
  • STRING: ENSP00000372394
• Other Databases: GeneCards:  TMEM129  Malacards:  TMEM129

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq