• Gene id: 56704

Gene Summary

• Gene Symbol: JPH1   Gene   UCSC   Ensembl
• Aliases: CMT2K, JP-1, JP1
• Gene name: junctophilin 1
• Alternate names: junctophilin-1, junctophilin type 1,
• Gene location: 8q21.11 (74321539: 74234699)     Exons: 6     NC_000008.11
• Gene summary(Entrez): Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a comp

Protein Summary

• Protein general information: Q9HDC5  
  • Name: Junctophilin 1 (JP 1) (Junctophilin type 1)
  • Length: 661  
  • Mass: 71686
  • Tissue specificity: Abundantly expressed in skeletal muscle. Very low levels in heart. {ECO
• Sequence:

  MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSHGFEVVGGYTWPSGNTYQGYWAQGKRHGLGVE
  TKGKWMYRGEWSHGFKGRYGVRQSLCTPARYEGTWSNGLQDGYGVETYGDGGTYQGQWAGGMRHGYGVRQSVPYG
  MATVIRSPLRTSLASLRSEQSNGSVLHDAAAAADSPAGTRGGFVLNFHADAELAGKKKGGLFRRGSLLGSMKLRK
  SESKSSISSKRSSVRSDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDATTTETYMGEWKNDKRNGFGVSERSN
  GMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNNILVRGIRKQLIPIRHTKTREKVDRAIEGAQRAAAMARTKVE
  IANSRTAHARAKADAADQAALAARQECDIARAVARELSPDFYQPGPDYVKQRFQEGVDAKENPEEKVPEKPPTPK
  ESPHFYRKGTTPPRSPEASPKHSHSPASSPKPLKKQNPSSGARLNQDKRSVADEQVTAIVNKPLMSKAPTKEAGA
  VVPQSKYSGRHHIPNPSNGELHSQYHGYYVKLNAPQHPPVDVEDGDGSSQSSSALVHKPSANKWSPSKSVTKPVA
  KESKAEPKAKKSELAIPKNPASNDSCPALEKEANSGPNSIMIVLVMLLNIGLAILFVHFLT

• Structural information:
  • Interpro: IPR017191  IPR003409  
  • STRING: ENSP00000344488
• Other Databases: GeneCards:  JPH1  Malacards:  JPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0030314	junctional membrane complex	IBA	cellular component
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	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
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0008307	structural constituent of muscle	IEA	molecular function
GO:0007517	muscle organ development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0014701	junctional sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0014701	junctional sarcoplasmic reticulum membrane	TAS	cellular component
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	TAS	biological process
GO:0060402	calcium ion transport into cytosol	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0030314	junctional membrane complex	NAS	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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