JSPR1_HUMAN
ID JSPR1_HUMAN Reviewed; 331 AA.
AC Q96MG2;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Junctional sarcoplasmic reticulum protein 1;
DE AltName: Full=Junctional-face membrane protein of 45 kDa homolog;
DE Short=JP-45;
GN Name=JSRP1; Synonyms=JP45;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION, VARIANTS LEU-108 AND ALA-150, AND CHARACTERIZATION OF VARIANTS
RP LEU-108 AND ALA-150.
RX PubMed=22927026; DOI=10.1002/humu.22209;
RA Yasuda T., Delbono O., Wang Z.M., Messi M.L., Girard T., Urwyler A.,
RA Treves S., Zorzato F.;
RT "JP-45/JSRP1 variants affect skeletal muscle excitation-contraction
RT coupling by decreasing the sensitivity of the dihydropyridine receptor.";
RL Hum. Mutat. 34:184-190(2013).
CC -!- FUNCTION: Involved in skeletal muscle excitation/contraction coupling
CC (EC), probably acting as a regulator of the voltage-sensitive calcium
CC channel CACNA1S. EC is a physiological process whereby an electrical
CC signal (depolarization of the plasma membrane) is converted into a
CC chemical signal, a calcium gradient, by the opening of ryanodine
CC receptor calcium release channels. May regulate CACNA1S membrane
CC targeting and activity. {ECO:0000269|PubMed:22927026}.
CC -!- SUBUNIT: Interacts with CACNA1S, CACNB1 and calsequestrin.
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q96MG2; O95674: CDS2; NbExp=3; IntAct=EBI-11305455, EBI-3913685;
CC Q96MG2; Q9H3K2: GHITM; NbExp=3; IntAct=EBI-11305455, EBI-2868909;
CC Q96MG2; O43561-2: LAT; NbExp=3; IntAct=EBI-11305455, EBI-8070286;
CC Q96MG2; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-11305455, EBI-12070086;
CC Q96MG2; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-11305455, EBI-10262251;
CC Q96MG2; Q9UNK0: STX8; NbExp=5; IntAct=EBI-11305455, EBI-727240;
CC Q96MG2; P55061: TMBIM6; NbExp=3; IntAct=EBI-11305455, EBI-1045825;
CC Q96MG2; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-11305455, EBI-741480;
CC -!- SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000250}.
CC Endoplasmic reticulum membrane {ECO:0000250}. Note=Colocalizes with
CC ryanodine receptors at the sarcoplasmic reticulum triad membranes.
CC {ECO:0000250}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-3 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AK056978; BAB71330.1; -; mRNA.
DR EMBL; BC021201; AAH21201.1; -; mRNA.
DR CCDS; CCDS12086.1; -.
DR RefSeq; NP_653217.1; NM_144616.3.
DR AlphaFoldDB; Q96MG2; -.
DR BioGRID; 125977; 19.
DR IntAct; Q96MG2; 16.
DR STRING; 9606.ENSP00000300961; -.
DR iPTMnet; Q96MG2; -.
DR PhosphoSitePlus; Q96MG2; -.
DR BioMuta; JSRP1; -.
DR DMDM; 74732368; -.
DR MassIVE; Q96MG2; -.
DR PaxDb; Q96MG2; -.
DR PeptideAtlas; Q96MG2; -.
DR PRIDE; Q96MG2; -.
DR ProteomicsDB; 77352; -.
DR Antibodypedia; 42291; 42 antibodies from 15 providers.
DR DNASU; 126306; -.
DR Ensembl; ENST00000300961.10; ENSP00000300961.4; ENSG00000167476.10.
DR GeneID; 126306; -.
DR KEGG; hsa:126306; -.
DR MANE-Select; ENST00000300961.10; ENSP00000300961.4; NM_144616.4; NP_653217.1.
DR UCSC; uc002lvj.3; human.
DR CTD; 126306; -.
DR DisGeNET; 126306; -.
DR GeneCards; JSRP1; -.
DR HGNC; HGNC:24963; JSRP1.
DR HPA; ENSG00000167476; Tissue enriched (skeletal).
DR MIM; 608743; gene.
DR neXtProt; NX_Q96MG2; -.
DR OpenTargets; ENSG00000167476; -.
DR PharmGKB; PA143485511; -.
DR VEuPathDB; HostDB:ENSG00000167476; -.
DR eggNOG; ENOG502S4JK; Eukaryota.
DR GeneTree; ENSGT00390000012911; -.
DR HOGENOM; CLU_073497_0_0_1; -.
DR InParanoid; Q96MG2; -.
DR OMA; RVPEPWV; -.
DR OrthoDB; 1387662at2759; -.
DR PhylomeDB; Q96MG2; -.
DR PathwayCommons; Q96MG2; -.
DR SignaLink; Q96MG2; -.
DR BioGRID-ORCS; 126306; 12 hits in 1061 CRISPR screens.
DR GenomeRNAi; 126306; -.
DR Pharos; Q96MG2; Tdark.
DR PRO; PR:Q96MG2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96MG2; protein.
DR Bgee; ENSG00000167476; Expressed in hindlimb stylopod muscle and 137 other tissues.
DR Genevisible; Q96MG2; HS.
DR GO; GO:0016529; C:sarcoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0033017; C:sarcoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0060314; P:regulation of ryanodine-sensitive calcium-release channel activity; IBA:GO_Central.
DR GO; GO:0003009; P:skeletal muscle contraction; IDA:UniProtKB.
DR InterPro; IPR026178; JSRP1.
DR PANTHER; PTHR22397; PTHR22397; 1.
DR Pfam; PF15312; JSRP; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Membrane; Reference proteome;
KW Sarcoplasmic reticulum.
FT CHAIN 1..331
FT /note="Junctional sarcoplasmic reticulum protein 1"
FT /id="PRO_0000314025"
FT REGION 1..118
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3..76
FT /note="Mediates interaction with CACNA1S"
FT /evidence="ECO:0000250"
FT REGION 157..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 60..75
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 100..115
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 162..192
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 220..331
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 92
FT /note="V -> A (in dbSNP:rs10426549)"
FT /id="VAR_037838"
FT VARIANT 108
FT /note="P -> L (affecting excitation/contraction coupling in
FT muscle fibers; the sensitivity of CACNA1S voltage sensor is
FT shifted to higher depolarizing voltages in cells carrying
FT this variant; dbSNP:rs74521370)"
FT /evidence="ECO:0000269|PubMed:22927026"
FT /id="VAR_069019"
FT VARIANT 150
FT /note="G -> A (affecting excitation/contraction coupling in
FT muscle fibers; the sensitivity of CACNA1S voltage sensor is
FT shifted to higher depolarizing voltages in cells carrying
FT this variant; dbSNP:rs80043033)"
FT /evidence="ECO:0000269|PubMed:22927026"
FT /id="VAR_069020"
FT VARIANT 233
FT /note="R -> Q (in dbSNP:rs35356610)"
FT /id="VAR_037839"
SQ SEQUENCE 331 AA; 36319 MW; BAB121BBB38EFB31 CRC64;
MSMTTRAWEE LDGGLGSCQA LEDHSALAET QEDRASATPR LADSGSVPHD SQVAEGPSVD
TRPKKMEKEP AARGTPGTGK ERLKAGASPR SVPARKKAQT APPLQPPPPP PALSEELPWG
DLSLNKCLVL ASLVALLGSA FQLCRDAVPG EAALQARVPE PWVPPSSAPR EPSSPLPKFE
AQAPPSAPPA PRAEAEVRPK IPGSREAAEN DEEEPGEATG EAVREDRVTL ADRGPKERPR
REGKPRKEKP RKEERPKKER PRKEERPRAA REPREALPQR WESREGGHRP WARDSRDAEP
RKKQAWVSPR RPDEEQRPGS RQKLRAGKGR D
