• Gene id: 51320

Gene Summary

• Gene Symbol: MEX3C   Gene   UCSC   Ensembl
• Aliases: BM-013, MEX-3C, RKHD2, RNF194
• Gene name: mex-3 RNA binding family member C
• Alternate names: RNA-binding E3 ubiquitin-protein ligase MEX3C, MEX3C variant 1, MEX3C variant 2, RING finger and KH domain-containing protein 2, RING finger protein 194, RING-type E3 ubiquitin transferase MEX3C, RNA-binding protein MEX3C, ring finger and KH domain containing 2,
• Gene location: 18q21.2 (100895410: 100872371)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphi
• OMIM: 611005

Protein Summary

• Protein general information: Q5U5Q3  
  • Name: RNA binding E3 ubiquitin protein ligase MEX3C (EC 2.3.2.27) (RING finger and KH domain containing protein 2) (RING finger protein 194) (RING type E3 ubiquitin transferase MEX3C)
  • Length: 659  
  • Mass: 69366
  • Tissue specificity: Highest levels found in fetal brain and testis. Also expressed in thymus, salivary gland and uterus. Highly expressed in cells of the innate immune system, in particular activated NK cells. Week expression in the intestine. {ECO
• Sequence:

  MPSGSSAALALAAAPAPLPQPPPPPPPPPPPLPPPSGGPELEGDGLLLRERLAALGLDDPSPAEPGAPALRAPAA
  AAQGQARRAAELSPEERAPPGRPGAPEAAELELEEDEEEGEEAELDGDLLEEEELEEAEEEDRSSLLLLSPPAAT
  ASQTQQIPGGSLGSVLLPAARFDAREAAAAAAAAGVLYGGDDAQGMMAAMLSHAYGPGGCGAAAAALNGEQAALL
  RRKSVNTTECVPVPSSEHVAEIVGRQGCKIKALRAKTNTYIKTPVRGEEPIFVVTGRKEDVAMAKREILSAAEHF
  SMIRASRNKNGPALGGLSCSPNLPGQTTVQVRVPYRVVGLVVGPKGATIKRIQQQTHTYIVTPSRDKEPVFEVTG
  MPENVDRAREEIEMHIAMRTGNYIELNEENDFHYNGTDVSFEGGTLGSAWLSSNPVPPSRARMISNYRNDSSSSL
  GSGSTDSYFGSNRLADFSPTSPFSTGNFWFGDTLPSVGSEDLAVDSPAFDSLPTSAQTIWTPFEPVNPLSGFGSD
  PSGNMKTQRRGSQPSTPRLSPTFPESIEHPLARRVRSDPPSTGNHVGLPIYIPAFSNGTNSYSSSNGGSTSSSPP
  ESRRKHDCVICFENEVIAALVPCGHNLFCMECANKICEKRTPSCPVCQTAVTQAIQIHS

• Structural information:
  • Protein Domains: (232..29-)
    (/note="KH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (326..38-)
    (/note="KH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117"-)
  • Interpro: IPR004087  IPR004088  IPR036612  IPR001841  IPR013083  
  • Prosite: PS50084 PS50089
  • PDB: 5WWW 5WWX 5WWZ 5ZI6
  • PDBsum: 5WWW 5WWX 5WWZ 5ZI6
  • STRING: ENSP00000385610
• Other Databases: GeneCards:  MEX3C  Malacards:  MEX3C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003415	chondrocyte hypertrophy	IEA	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:0045598	regulation of fat cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881