• Gene id: 114822

Gene Summary

• Gene Symbol: RHPN1   Gene   UCSC   Ensembl
• Aliases: ODF5, RHOPHILIN, RHPN
• Gene name: rhophilin Rho GTPase binding protein 1
• Alternate names: rhophilin-1, GTP-Rho-binding protein 1, outer dense fiber of sperm tails 5,
• Gene location: 8q24.3 (143368826: 143384220)     Exons: 18     NC_000008.11
• OMIM: 608843

Protein Summary

• Protein general information: Q8TCX5  
  • Name: Rhophilin 1 (GTP Rho binding protein 1)
  • Length: 670  
  • Mass: 73590
• Sequence:

  MILEERPDGAGAGEESPRLQGCDSLTQIQCGQLQSRRAQIHQQIDKELQMRTGAENLYRATSNNRVRETVALELS
  YVNSNLQLLKEELEELSGGVDPGRHGSEAVTVPMIPLGLKETKELDWSTPLKELISVHFGEDGASYEAEIRELEA
  LRQAMRTPSRNESGLELLTAYYNQLCFLDARFLTPARSLGLFFHWYDSLTGVPAQQRALAFEKGSVLFNIGALHT
  QIGARQDRSCTEGARRAMEAFQRAAGAFSLLRENFSHAPSPDMSAASLCALEQLMMAQAQECVFEGLSPPASMAP
  QDCLAQLRLAQEAAQVAAEYRLVHRTMAQPPVHDYVPVSWTALVHVKAEYFRSLAHYHVAMALCDGSPATEGELP
  THEQVFLQPPTSSKPRGPVLPQELEERRQLGKAHLKRAILGQEEALRLHALCRVLREVDLLRAVISQTLQRSLAK
  YAELDREDDFCEAAEAPDIQPKTHQKPEARMPRLSQGKGPDIFHRLGPLSVFSAKNRWRLVGPVHLTRGEGGFGL
  TLRGDSPVLIAAVIPGSQAAAAGLKEGDYIVSVNGQPCRWWRHAEVVTELKAAGEAGASLQVVSLLPSSRLPSLG
  DRRPVLLGPRGLLRSQREHGCKTPASTWASPRPLLNWSRKAQQGKTGGCPQPCAPVKPAPPSSLKHPGWP

• Structural information:
  • Protein Domains: (23..9-)
    (/note="REM-1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01207-)
    (108..45-)
    (/note="BRO1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00526-)
    (513..59-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR004328  IPR038499  IPR011072  IPR036274  IPR001478   IPR036034  IPR042715  
  • Prosite: PS51180 PS50106 PS51860
  • CDD: cd09248
  • STRING: ENSP00000289013
• Other Databases: GeneCards:  RHPN1  Malacards:  RHPN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray