• Gene id: 51136

Gene Summary

• Gene Symbol: RNFT1   Gene   UCSC   Ensembl
• Aliases: PTD016
• Gene name: ring finger protein, transmembrane 1
• Alternate names: E3 ubiquitin-protein ligase RNFT1, RING finger and transmembrane domain-containing protein 1,
• Gene location: 17q23.1 (59964739: 59952239)     Exons: 9     NC_000017.11
• OMIM: 615172

Protein Summary

• Protein general information: Q5M7Z0  
  • Name: E3 ubiquitin protein ligase RNFT1 (EC 2.3.2.27) (Protein PTD016) (RING finger and transmembrane domain containing protein 1)
  • Length: 435  
  • Mass: 49710
  • Tissue specificity: Expressed at highest levels in testis, lower levels in heart, liver, lung, and kidney (PubMed
• Sequence:

  MPLFLLSLPTPPSASGHERRQRPEAKTSGSEKKYLRAMQANRSQLHSPPGTGSSEDASTPQCVHTRLTGEGSCPH
  SGDVHIQINSIPKECAENASSRNIRSGVHSCAHGCVHSRLRGHSHSEARLTDDTAAESGDHGSSSFSEFRYLFKW
  LQKSLPYILILSVKLVMQHITGISLGIGLLTTFMYANKSIVNQVFLRERSSKIQCAWLLVFLAGSSVLLYYTFHS
  QSLYYSLIFLNPTLDHLSFWEVFWIVGITDFILKFFFMGLKCLILLVPSFIMPFKSKGYWYMLLEELCQYYRTFV
  PIPVWFRYLISYGEFGNVTRWSLGILLALLYLILKLLEFFGHLRTFRQVLRIFFTQPSYGVAASKRQCSDVDDIC
  SICQAEFQKPILLICQHIFCEECMTLWFNREKTCPLCRTVISDHINKWKDGATSSHLQIY

• Structural information:
  • Interpro: IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • STRING: ENSP00000304670
• Other Databases: GeneCards:  RNFT1  Malacards:  RNFT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0051865	protein autoubiquitination	IDA	biological process
GO:1904294	positive regulation of ERAD pathway	IMP	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R