JSRP1

Summary

JSRP1 (junctional sarcoplasmic reticulum protein 1, HGNC:24963) is a protein-coding gene on chromosome 19p13.3, encoding Junctional sarcoplasmic reticulum protein 1 (Q96MG2). Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage-sensitive calcium channel CACNA1S.

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.

Source: NCBI Gene 126306 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_144616

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24963
Approved symbol	JSRP1
Name	junctional sarcoplasmic reticulum protein 1
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	JP-45, FLJ32416
Ensembl gene	ENSG00000167476
Ensembl biotype	protein_coding
OMIM	608743
Entrez	126306

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000300961, ENST00000590976, ENST00000593238, ENST00000862808, ENST00000862809, ENST00000967626, ENST00000967627, ENST00000967628, ENST00000967629, ENST00000967630, ENST00000967631

RefSeq mRNA: 1 — MANE Select: NM_144616 NM_144616

CCDS: CCDS12086

Canonical transcript exons

ENST00000300961 — 7 exons

Exon	Start	End
ENSE00001113414	2253620	2253793
ENSE00001113415	2252912	2253003
ENSE00001113417	2254445	2254482
ENSE00001113418	2254187	2254301
ENSE00002255423	2256383	2256417
ENSE00003706464	2252252	2252796
ENSE00003709322	2255206	2255344

Expression profiles

Bgee: expression breadth ubiquitous, 180 present calls, max score 98.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.9716 / max 322.7903, expressed in 160 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178149	1.7506	154
178150	0.2211	68

Top tissues by expression

228 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	98.61	gold quality
gastrocnemius	UBERON:0001388	98.14	gold quality
muscle of leg	UBERON:0001383	95.66	gold quality
vena cava	UBERON:0004087	93.90	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.82	gold quality
skeletal muscle tissue	UBERON:0001134	91.42	gold quality
bone marrow cell	CL:0002092	91.39	gold quality
body of tongue	UBERON:0011876	90.21	gold quality
vastus lateralis	UBERON:0001379	89.83	gold quality
quadriceps femoris	UBERON:0001377	88.92	silver quality
upper arm skin	UBERON:0004263	88.81	gold quality
cerebellar vermis	UBERON:0004720	88.47	silver quality
parotid gland	UBERON:0001831	88.24	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	87.95	gold quality
kidney epithelium	UBERON:0004819	87.73	gold quality
pons	UBERON:0000988	87.41	silver quality
tongue	UBERON:0001723	87.24	silver quality
pharyngeal mucosa	UBERON:0000355	87.16	silver quality
biceps brachii	UBERON:0001507	86.97	gold quality
prefrontal cortex	UBERON:0000451	86.77	gold quality
trachea	UBERON:0003126	86.41	silver quality
muscle tissue	UBERON:0002385	86.14	gold quality
pericardium	UBERON:0002407	85.59	silver quality
epithelial cell of pancreas	CL:0000083	85.04	gold quality
pylorus	UBERON:0001166	84.53	silver quality
superior surface of tongue	UBERON:0007371	83.76	silver quality
cardia of stomach	UBERON:0001162	83.70	gold quality
tendon of biceps brachii	UBERON:0008188	83.70	gold quality
stromal cell of endometrium	CL:0002255	83.61	gold quality
saphenous vein	UBERON:0007318	83.39	silver quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	24545.45
E-MTAB-7407	yes	15593.83
E-MTAB-9543	yes	9604.90
E-HCAD-4	yes	40.75
E-CURD-46	yes	26.44
E-MTAB-8142	yes	17.96
E-ANND-3	yes	14.72
E-HCAD-31	no	2.22
E-MTAB-8410	no	1.27

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• The results may be explained by a modulatory effect of JP-45 related to its reported in vitro interaction with the dihydropyridine receptor and the SR Ca(2+) binding protein calsequestrin (CSQ). (PMID:16423849)
• Data indicate that the presence of either one of these JP-45 variants decreased the sensitivity of the dihydropyridine receptor DHPR to activation. (PMID:22927026)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Jsrp1	ENSMUSG00000020216
rattus_norvegicus	Jsrp1	ENSRNOG00000032951

Protein

Protein identifiers

Junctional sarcoplasmic reticulum protein 1 — Q96MG2 (reviewed: Q96MG2)

Alternative names: Junctional-face membrane protein of 45 kDa homolog

All UniProt accessions (1): Q96MG2

UniProt curated annotations — full annotation on UniProt →

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) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptor calcium release channels. May regulate CACNA1S membrane targeting and activity.

Subunit / interactions. Interacts with CACNA1S, CACNB1 and calsequestrin.

Subcellular location. Sarcoplasmic reticulum membrane. Endoplasmic reticulum membrane.

RefSeq proteins (1): NP_653217* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026178	JSRP1	Family

Pfam: PF15312

UniProt features (15 total): compositionally biased region 7, sequence variant 4, region of interest 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MG2-F1	52.69	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, GOBP_SKELETAL_MUSCLE_CONTRACTION, GOBP_MUSCLE_CONTRACTION, GOBP_MUSCLE_SYSTEM_PROCESS, E12_Q6, GOBP_NEUROMUSCULAR_PROCESS, GOCC_SARCOPLASMIC_RETICULUM_MEMBRANE, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_SARCOPLASM, E2A_Q2, chr19p13, GOCC_ORGANELLE_SUBCOMPARTMENT, GOBP_STRIATED_MUSCLE_CONTRACTION, CHAF1B_TARGET_GENES, FOXN3_TARGET_GENES

GO Biological Process (1): skeletal muscle contraction (GO:0003009)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): sarcoplasmic reticulum (GO:0016529), sarcoplasmic reticulum membrane (GO:0033017), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
striated muscle contraction	1
musculoskeletal movement	1
binding	1
endoplasmic reticulum	1
sarcoplasm	1
endoplasmic reticulum membrane	1
sarcoplasmic reticulum	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

927 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JSRP1	CACNA1S	Q13698	881
JSRP1	CASQ1	P31415	729
JSRP1	TRDN	Q13061	709
JSRP1	ASPH	Q12797	672
JSRP1	RYR1	P21817	620
JSRP1	STAC3	Q96MF2	609
JSRP1	SYPL2	Q5VXT5	529
JSRP1	SRL	Q86TD4	512
JSRP1	ATP2A1	O14983	475
JSRP1	JPH1	Q9HDC5	474
JSRP1	LACTB2	Q53H82	473
JSRP1	RRP8	O43159	442
JSRP1	SF3A2	Q15428	433
JSRP1	JPH2	Q9BR39	433
JSRP1	JPH4	Q96JJ6	431

IntAct

32 interactions, top by confidence:

A	B	Type	Score
JSRP1	STX8	psi-mi:“MI:0915”(physical association)	0.630
STX8	JSRP1	psi-mi:“MI:0915”(physical association)	0.630
LAT	JSRP1	psi-mi:“MI:0915”(physical association)	0.560
CDS2	JSRP1	psi-mi:“MI:0915”(physical association)	0.560
MS4A13	JSRP1	psi-mi:“MI:0915”(physical association)	0.560
TMBIM6	JSRP1	psi-mi:“MI:0915”(physical association)	0.560
SLC30A8	JSRP1	psi-mi:“MI:0915”(physical association)	0.560
JSRP1	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
JSRP1	GHITM	psi-mi:“MI:0915”(physical association)	0.560
JSRP1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
JSRP1	TERF1	psi-mi:“MI:0915”(physical association)	0.370
JSRP1	GNAO1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
STX8	JSRP1	psi-mi:“MI:0915”(physical association)	0.000
GHITM	JSRP1	psi-mi:“MI:0915”(physical association)	0.000
LAT	JSRP1	psi-mi:“MI:0915”(physical association)	0.000
CDS2	JSRP1	psi-mi:“MI:0915”(physical association)	0.000
MS4A13	JSRP1	psi-mi:“MI:0915”(physical association)	0.000
TMBIM6	JSRP1	psi-mi:“MI:0915”(physical association)	0.000
SLC30A8	JSRP1	psi-mi:“MI:0915”(physical association)	0.000
UBQLN1	JSRP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): AHNAK2 (Affinity Capture-MS), AHNAK (Affinity Capture-MS), GNAO1 (Affinity Capture-MS), YES1 (Affinity Capture-MS), PRKCA (Affinity Capture-MS), RRAS (Affinity Capture-MS), SIAH1 (Affinity Capture-MS), SIAH1 (Affinity Capture-MS), AHNAK (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), GNAO1 (Affinity Capture-MS), RRAS (Affinity Capture-MS), JSRP1 (Affinity Capture-RNA), JSRP1 (Two-hybrid), JSRP1 (Two-hybrid)

ESM2 similar proteins: A0A1B0GUA9, A2TJV2, A6NDB9, A6QLY7, O88737, O88778, O94850, P0C671, P27987, P48681, P58871, Q0D2H9, Q14676, Q28181, Q2YDF7, Q3MI48, Q3TVI8, Q5EBJ4, Q5JTC6, Q5PSV9, Q5TM66, Q5TM68, Q5YCW1, Q640N3, Q68A65, Q6NYC8, Q6ZW13, Q767L8, Q767M0, Q7TS75, Q7YR40, Q7Z6I6, Q7Z6P3, Q811Q2, Q86Y26, Q8BHB9, Q8BHW6, Q8BQ30, Q8CB87, Q8N1P7

Diamond homologs: Q2YDF7, Q3MI48, Q96MG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

59 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1092 predictions. Top by Δscore:

Variant	Effect	Δscore
19:2252792:TTAGG:T	acceptor_gain	1.0000
19:2252793:TAGG:T	acceptor_gain	1.0000
19:2252794:AGG:A	acceptor_gain	1.0000
19:2252795:GG:G	acceptor_gain	1.0000
19:2252797:C:CC	acceptor_gain	1.0000
19:2253617:CAC:C	donor_loss	1.0000
19:2253618:A:AC	donor_gain	1.0000
19:2253618:ACC:A	donor_loss	1.0000
19:2253619:C:CC	donor_gain	1.0000
19:2254185:A:AC	donor_gain	1.0000
19:2254186:C:CC	donor_gain	1.0000
19:2254207:T:A	donor_gain	1.0000
19:2254211:T:TA	donor_gain	1.0000
19:2254212:C:A	donor_gain	1.0000
19:2254443:A:AC	donor_gain	1.0000
19:2254444:C:CC	donor_gain	1.0000
19:2254481:CG:C	acceptor_gain	1.0000
19:2254483:C:CC	acceptor_gain	1.0000
19:2255220:T:TA	donor_gain	1.0000
19:2255340:CCAGG:C	acceptor_gain	1.0000
19:2255341:CAGG:C	acceptor_gain	1.0000
19:2255341:CAGGC:C	acceptor_gain	1.0000
19:2255342:AGG:A	acceptor_gain	1.0000
19:2255343:GG:G	acceptor_gain	1.0000
19:2255345:C:CC	acceptor_gain	1.0000
19:2255564:A:AC	donor_gain	1.0000
19:2255565:C:CC	donor_gain	1.0000
19:2269740:GAGAG:G	donor_gain	1.0000
19:2269741:AGAGG:A	donor_loss	1.0000
19:2269742:GAG:G	donor_gain	1.0000

AlphaMissense

2095 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:2253677:A:G	C127R	0.973
19:2253644:C:G	G138R	0.965
19:2253664:G:T	A131D	0.957
19:2253699:C:A	W119C	0.957
19:2253699:C:G	W119C	0.957
19:2253701:A:G	W119R	0.956
19:2253701:A:T	W119R	0.956
19:2253652:G:T	A135E	0.955
19:2253667:A:T	L130H	0.934
19:2253643:C:T	G138D	0.932
19:2253637:G:T	A140D	0.928
19:2253682:T:A	N125I	0.914
19:2253681:G:C	N125K	0.911
19:2253681:G:T	N125K	0.911
19:2253673:A:G	L128P	0.909
19:2253768:C:A	K96N	0.908
19:2253768:C:G	K96N	0.908
19:2253685:A:T	L124H	0.907
19:2253626:A:G	C144R	0.901
19:2253675:G:C	C127W	0.901
19:2253678:C:A	K126N	0.896
19:2253678:C:G	K126N	0.896
19:2253655:A:T	V134E	0.893
19:2255306:C:A	M3I	0.891
19:2255306:C:G	M3I	0.891
19:2255306:C:T	M3I	0.891
19:2253673:A:T	L128Q	0.888
19:2253670:A:T	V129E	0.887
19:2253662:A:G	S132P	0.877
19:2252482:C:A	W281C	0.870

dbSNP variants (sampled 300 via entrez): RS1000055257 (19:2257549 A>G,T), RS1000208333 (19:2255610 C>G,T), RS1000225866 (19:2254343 C>G,T), RS1001087147 (19:2251841 C>G,T), RS1001255711 (19:2258054 C>T), RS1001305338 (19:2253082 GC>G,GCC,GCCC), RS1001879710 (19:2254355 C>G,T), RS1002077521 (19:2256830 A>G), RS1002235757 (19:2252333 T>C), RS1002543989 (19:2252086 G>A,T), RS1002665682 (19:2256988 G>A,T), RS1003551057 (19:2253240 T>C), RS1003779568 (19:2257968 C>G,T), RS1004089618 (19:2258117 A>G), RS1004216857 (19:2254994 G>A)

Disease associations

OMIM: gene MIM:608743 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010796_4772	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
beauvericin	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, affects methylation	1
sodium arsenite	increases expression	1
beta-methylcholine	affects expression	1
enniatins	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects methylation, increases methylation, affects cotreatment	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benztropine	affects cotreatment, decreases expression	1
Cannabidiol	affects cotreatment, decreases expression	1
Clozapine	affects cotreatment, decreases expression	1
Copper	affects binding, decreases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Curcumin	decreases expression	1
Disulfiram	affects binding, decreases expression	1
Lead	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	increases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.