• Gene id: 51132

Gene Summary

• Gene Symbol: RLIM   Gene   UCSC   Ensembl
• Aliases: MRX61, NY-REN-43, RNF12, TOKAS
• Gene name: ring finger protein, LIM domain interacting
• Alternate names: E3 ubiquitin-protein ligase RLIM, E3 ubiquitin-protein ligase RNF12, LIM domain-interacting RING finger protein, R-LIM, RING finger LIM domain-binding protein, RING-type E3 ubiquitin transferase RLIM, renal carcinoma antigen NY-REN-43, ring finger protein 12, rin,
• Gene location: Xq13.2 (74614623: 74582975)     Exons: 18     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repr
• OMIM: 300379

Protein Summary

• Protein general information: Q9NVW2  
  • Name: E3 ubiquitin protein ligase RLIM (EC 2.3.2.27) (LIM domain interacting RING finger protein) (RING finger LIM domain binding protein) (R LIM) (RING finger protein 12) (RING type E3 ubiquitin transferase RLIM) (Renal carcinoma antigen NY REN 43)
  • Length: 624  
  • Mass: 68549
  • Tissue specificity: Expressed in many tissues.
• Sequence:

  MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGP
  PPQNSDENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQ
  NSENENEPSARRSSGENVENNSQRQVENPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARA
  ERSRSPLHPMSEIPRRSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGS
  SDTAASGESTGSGQRPPTIVLDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGV
  RTYVSTIRIPIRRILNTGLSETTSVAIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAESRSGRGGSG
  GGSSSGSSSSSSSSSSSSSSSSSSSSPSSSSGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGS
  LPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRSFGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRW
  LSENSTCPICRRAVLASGNRESVV

• Structural information:
  • Interpro: IPR001841  IPR013083  
  • Prosite: PS50089
  • STRING: ENSP00000328059
• Other Databases: GeneCards:  RLIM  Malacards:  RLIM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0060816	random inactivation of X chromosome	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:1900095	regulation of dosage compensation by inactivation of X chromosome	IBA	biological process
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0060816	random inactivation of X chromosome	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0016567	protein ubiquitination	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0060816	random inactivation of X chromosome	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:1900095	regulation of dosage compensation by inactivation of X chromosome	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0003714	transcription corepressor activity	NAS	molecular function
GO:0017053	transcription repressor complex	NAS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray