• Gene id: 133619

Gene Summary

• Gene Symbol: PRRC1   Gene   UCSC   Ensembl
• Gene name: proline rich coiled-coil 1
• Alternate names: protein PRRC1, proline-rich and coiled-coil-containing protein 1,
• Gene location: 5q23.2 (147204183: 147390475)     Exons: 34     NC_000006.12

Protein Summary

• Protein general information: Q96M27  
  • Name: Protein PRRC1 (Proline rich and coiled coil containing protein 1)
  • Length: 445  
  • Mass: 46701
  • Tissue specificity: Isoform 4 is specifically expressed in liver. Ubiquitously expressed with higher expression in kidney, liver and placenta. {ECO
• Sequence:

  MMEESGIETTPPGTPPPNPAGLAATAMSSTPVPLAATSSFSSPNVSSMESFPPLAYSTPQPPLPPVRPSAPLPFV
  PPPAVPSVPPLVTSMPPPVSPSTAAAFGNPPVSHFPPSTSAPNTLLPAPPSGPPISGFSVGSTYDITRGHAGRAP
  QTPLMPSFSAPSGTGLLPTPITQQASLTSLAQGTGTTSAITFPEEQEDPRITRGQDEASAGGIWGFIKGVAGNPM
  VKSVLDKTKHSVESMITTLDPGMAPYIKSGGELDIVVTSNKEVKVAAVRDAFQEVFGLAVVVGEAGQSNIAPQPV
  GYAAGLKGAQERIDSLRRTGVIHEKQTAVSVENFIAELLPDKWFDIGCLVVEDPVHGIHLETFTQATPVPLEFVQ
  QAQSLTPQDYNLRWSGLLVTVGEVLEKSLLNVSRTDWHMAFTGMSRRQMIYSAARAIAGMYKQRLPPRTV

• Structural information:
  • Interpro: IPR029001  IPR026533  IPR026534  
  • STRING: ENSP00000421965
• Other Databases: GeneCards:  PRRC1  Malacards:  PRRC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034199	activation of protein kinase A activity	IBA	biological process
GO:0034237	protein kinase A regulatory subunit binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq