• Gene id: 55599

Gene Summary

• Gene Symbol: RNPC3   Gene   UCSC   Ensembl
• Aliases: IGHD5, RBM40, RNP, SNRNP65
• Gene name: RNA binding region (RNP1, RRM) containing 3
• Alternate names: RNA-binding region-containing protein 3, RNA-binding motif protein 40, RNA-binding protein 40, U11/U12 small nuclear ribonucleoprotein 65 kDa protein, U11/U12 snRNP 65 kDa protein, U11/U12 snRNP 65K, U11/U12-65K,
• Gene location: 1p21.1 (103525698: 103555238)     Exons: 15     NC_000001.11
• Gene summary(Entrez): Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes a
• OMIM: 618016

Protein Summary

• Protein general information: Q96LT9  
  • Name: RNA binding region containing protein 3 (RNA binding motif protein 40) (RNA binding protein 40) (U11/U12 small nuclear ribonucleoprotein 65 kDa protein) (U11/U12 snRNP 65 kDa protein) (U11/U12 65K)
  • Length: 517  
  • Mass: 58575
  • Tissue specificity: Highly expressed in pancreas and kidney. Detected at lower levels in heart, brain, placenta, lung, liver, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. {ECO
• Sequence:

  MAAPEQPLAISRGCTSSSSLSPPRGDRTLLVRHLPAELTAEEKEDLLKYFGAQSVRVLSDKGRLKHTAFATFPNE
  KAAIKALTRLHQLKLLGHTLVVEFAKEQDRVHSPCPTSGSEKKKRSDDPVEDDKEKKELGYLTVENGIAPNHGLT
  FPLNSCLKYMYPPPSSTILANIVNALASVPKFYVQVLHLMNKMNLPTPFGPITARPPMYEDYMPLHAPLPPTSPQ
  PPEEPPLPDEDEELSSEESEYESTDDEDRQRMNKLMELANLQPKRPKTIKQRHVRKKRKIKDMLNTPLCPSHSSL
  HPVLLPSDVFDQPQPVGNKRIEFHISTDMPAAFKKDLEKEQNCEEKNHDLPATEVDASNIGFGKIFPKPNLDITE
  EIKEDSDEMPSECISRRELEKGRISREEMETLSVFRSYEPGEPNCRIYVKNLAKHVQEKDLKYIFGRYVDFSSET
  QRIMFDIRLMKEGRMKGQAFIGLPNEKAAAKALKEANGYVLFGKPMVVQFARSARPKQDPKEGKRKC

• Structural information:
  • Protein Domains: (27..10-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (420..50-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR034147  IPR000504  
  • Prosite: PS50102
  • CDD: cd12238
  • PDB: 3EGN 5OBN
  • PDBsum: 3EGN 5OBN
  • STRING: ENSP00000432886
• Other Databases: GeneCards:  RNPC3  Malacards:  RNPC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030626	U12 snRNA binding	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0005689	U12-type spliceosomal complex	IBA	cellular component
GO:0097157	pre-mRNA intronic binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0008380	RNA splicing	IC	biological process
GO:0005689	U12-type spliceosomal complex	IDA	cellular component

Diseases

Associated diseases	References
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)