• Gene id: 126306

Gene Summary

• Gene Symbol: JSRP1   Gene   UCSC   Ensembl
• Aliases: JP-45, JP45
• Gene name: junctional sarcoplasmic reticulum protein 1
• Alternate names: junctional sarcoplasmic reticulum protein 1, 2310032K21Rik, homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45, junctional-face membrane protein of 45 kDa homolog, skeletal muscle sarcoplasmic reticulum protein JP-45,
• Gene location: 19p13.3 (2260812: 2252251)     Exons: 8     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provide

Protein Summary

• Protein general information: Q96MG2  
  • Name: Junctional sarcoplasmic reticulum protein 1 (Junctional face membrane protein of 45 kDa homolog) (JP 45)
  • Length: 331  
  • Mass: 36319
• Sequence:

  MSMTTRAWEELDGGLGSCQALEDHSALAETQEDRASATPRLADSGSVPHDSQVAEGPSVDTRPKKMEKEPAARGT
  PGTGKERLKAGASPRSVPARKKAQTAPPLQPPPPPPALSEELPWGDLSLNKCLVLASLVALLGSAFQLCRDAVPG
  EAALQARVPEPWVPPSSAPREPSSPLPKFEAQAPPSAPPAPRAEAEVRPKIPGSREAAENDEEEPGEATGEAVRE
  DRVTLADRGPKERPRREGKPRKEKPRKEERPKKERPRKEERPRAAREPREALPQRWESREGGHRPWARDSRDAEP
  RKKQAWVSPRRPDEEQRPGSRQKLRAGKGRD

• Structural information:
  • Interpro: IPR026178  
  • STRING: ENSP00000300961
• Other Databases: GeneCards:  JSRP1  Malacards:  JSRP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	IBA	biological process
GO:0003009	skeletal muscle contraction	IBA	biological process
GO:0003009	skeletal muscle contraction	IDA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq