JSRP1 (junctional sarcoplasmic reticulum protein 1)

Gene

• Entrez ID: 126306
• Gene name: Junctional sarcoplasmic reticulum protein 1
• Gene symbol: JSRP1
• Synonyms (NCBI Gene): JP-45, JP45
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1077969	hsa-miR-198	CLIP-seq
MIRT1077970	hsa-miR-296-5p	CLIP-seq
MIRT1077971	hsa-miR-3154	CLIP-seq
MIRT1077972	hsa-miR-3179	CLIP-seq
MIRT1077973	hsa-miR-331-3p	CLIP-seq
MIRT1077974	hsa-miR-3690	CLIP-seq
MIRT1077975	hsa-miR-378	CLIP-seq
MIRT1077976	hsa-miR-378b	CLIP-seq
MIRT1077977	hsa-miR-378c	CLIP-seq
MIRT1077978	hsa-miR-378d	CLIP-seq
MIRT1077979	hsa-miR-378e	CLIP-seq
MIRT1077980	hsa-miR-378f	CLIP-seq
MIRT1077981	hsa-miR-378h	CLIP-seq
MIRT1077982	hsa-miR-378i	CLIP-seq
MIRT1077983	hsa-miR-422a	CLIP-seq
MIRT1077984	hsa-miR-4308	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IDA	22927026
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA

Other IDs

• MIM: 608743
• HGNC: 24963
• e!Ensembl: ENSG00000167476

Protein

• UniProt ID: Q96MG2
• Protein name: Junctional sarcoplasmic reticulum protein 1 (Junctional-face membrane protein of 45 kDa homolog) (JP-45)
• Protein function: Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage-sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarization of the plasma membrane)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15312	JSRP	115 → 177	Junctional sarcoplasmic reticulum protein	Family

• Sequence:

  MSMTTRAWEELDGGLGSCQALEDHSALAETQEDRASATPRLADSGSVPHDSQVAEGPSVD
  TRPKKMEKEPAARGTPGTGKERLKAGASPRSVPARKKAQTAPPLQPPPPPPALSEELPWG
  DLSLNKCLVLASLVALLGSAFQLCRDAVPGEAALQARVPEPWVPPSSAPREPSSPLPKFE
  AQAPPSAPPAPRAEAEVRPKIPGSREAAENDEEEPGEATGEAVREDRVTLADRGPKERPR
  REGKPRKEKPRKEERPKKERPRKEERPRAAREPREALPQRWESREGGHRPWARDSRDAEP
  RKKQAWVSPRRPDEEQRPGSRQKLRAGKGRD

• Sequence length: 331

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
POLYCYSTIC OVARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37653101	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	20442750		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	22927026		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only