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JSRP1 Gene

protein-coding GIFtS: 44

GC19M002204

junctional sarcoplasmic reticulum protein 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
2310032K21Rik ^²
FLJ32416 ^¹, ²
JP-45 ^¹, ², ³
JP45 ^³

Descriptions
Junctional-face membrane protein of 45 kDa homolog ^³
homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45 ^²
junctional sarcoplasmic reticulum protein 1 ^²
skeletal muscle sarcoplasmic reticulum protein JP-45 ^²

External Ids
HGNC: 24963¹
Entrez Gene: 126306²
UniProtKB: Q96MG2³
Ensembl: ENSG00000167476⁷

Search outside databases for aliases for JSRP1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for JSRP1:

The sarcoplasmic reticulum (SR) is an intracellular membrane compartment that controls

intracellular calcium concentration and therefore plays a role in excitation-contraction coupling.

In mouse skeletal muscle, Jp45 interacts with key proteins involved in excitation-contraction

coupling at the SR (Anderson et al., 2003 [PubMed 12871958]).[supplied by OMIM]

UniProtKB/Swiss-Prot: JSPR1_HUMAN, Q96MG2

Function: May function as a regulator of the voltage-sensitive calcium channel CACNA1S. May

regulate CACNA1S membrane targeting and activity. May function in excitation/contraction coupling

in muscle cells (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the JSRP1 gene

Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3

JSRP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M002204: (about GC identifiers)

Start:	2,203,252 bp from pter
End:	2,207,386 bp from pter
Size:	4,135 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000019.8 NT_011255.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: JSPR1_HUMAN, Q96MG2 (See protein sequence)

Recommended Name: Junctional sarcoplasmic reticulum protein 1

Size: 331 amino acids; 36319 Da

Subunit: Interacts with CACNA1S, CACNB1 and calsequestrin (By similarity)

Subcellular location: Sarcoplasmic reticulum membrane (By similarity). Endoplasmic reticulum

membrane (By similarity). Note=Colocalizes with ryanodine receptors at the sarcoplasmic reticulum

triad membranes (By similarity)

Caution: It is uncertain whether Met-1 or Met-3 is the initiator

REFSEQ proteins: NP_653217.1

ENSEMBL proteins:

ENSP00000300961

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Junctional Sarcoplasmic Reticulum)
	Human Recombinant Proteins from Abnova (FLJ32416)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0033017	sarcoplasmic reticulum membrane	IEA	--

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Antibodies for JSRP1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Antibodies from Abcam (Junctional Sarcoplasmic Reticulum), each with their Abpromise^SM
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	Search Novus for antibodies for JSRP1

Assays for JSRP1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q96MG2

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JSRP1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_144616

Applied Biosystems Silencer® siRNAs for JSRP1

Sigma-Aldrich siRNA for JSRP1

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_144616
Myc/DDK tagged cDNA clone in CMV expression vector: NM_144616
untagged cDNA clone in CMV expression vector: NM_144616

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_144616

UniProtKB/Swiss-Prot: JSPR1_HUMAN, Q96MG2

Function: May function as a regulator of the voltage-sensitive calcium channel CACNA1S. May

regulate CACNA1S membrane targeting and activity. May function in excitation/contraction coupling

in muscle cells (By similarity)

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Jsrp1):

behavior/neurological

muscle

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Interacting proteins for JSRP1 (ENSP00000300961³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CASQ1	ENSP00000357058³	STRING (score=.817)
CASQ2	ENSP00000261448³	STRING (score=.817)
--	ENSP00000263942³	STRING (score=.832)

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for JSRP1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JSRP1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_144616

Sigma-Aldrich siRNA for JSRP1

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_144616

REFSEQ mRNAs for JSRP1 gene:

NM_144616.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_144616

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_144616
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_144616
                                 untagged cDNA clone in CMV expression vector: NM_144616

Additional cDNA sequence:

AK056978.1 BC021201.2

5 DOTS entries:

DT.91753476 DT.121414371 DT.100881247 DT.91999328 DT.95338340

24/25 AceView cDNA sequences (see all 25 ):

AK056978 AW137573 BC021201 BM474204 BE743731 F27540 BE746917 BI827484

NM_144616 BQ685035 AI825241 BE503611 AW000792 AA688087 AI805145 AA628755

BG827814 BF204446 F34204 F35910 BG827699 BF306204 AA523549 AI298723

highest scoring ESTs for JSRP1:

AK056978 BG827814 BM474204 AI805145 BC021201 BE743731 BE746917 BF204446 BF306204 BF307336

Unigene Cluster for JSRP1:

Junctional sarcoplasmic reticulum protein 1

Hs.712901 [show with all ESTs]

Unigene Representative Sequence: BM464867

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000300961

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

JSRP1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for JSRP1

¹ / ² / ³

5 probe-sets matching JSRP1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
85805_r_at²^{, 3}	U95-E	1	0.94	1.00	1.00	1.00	AI805145	0.60	1.00	0.82	1
235863_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI805145	0.60	1.00	0.82	1
233358_at*²^{, 3}	U133-B	47	1.00	0.02	--	--	AK024373	0.20	0.01	0.14	3
235863_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
233358_at*²	U133Plus2	47	1.00	0.02	--	--	--	--	--	--	--

GeneDecks JSRP1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: ACAACCAGAG

SOURCE GeneReport for Unigene cluster: Hs.712901

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for JSRP1 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
cow (Bos taurus)	JSRP1¹	--	junctional sarcoplasmic reticulum protein 1	78.05(n) 69.57(a)	509378 NM_001046031.1 NP_001039496.1
rat (Rattus norvegicus)	Jsrp1¹	--	junctional sarcoplasmic reticulum protein 1	68.45(n) 57.1(a)	690423 XM_001059707.1 XP_001059707.1
mouse (Mus musculus)	Jsrp1^{1, 5}	10⁵	junctional sarcoplasmic reticulum protein 1^{1, 5}	69.78(n)¹ 58.75(a)¹	71912¹ NM_028001.2¹ NP_082277.1¹ AK009016⁵ AK009578⁵ (see all 8)

About this table Species with no ortholog for JSRP1

ENSEMBL Gene Tree for JSRP1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/31 NCBI SNPs in JSRP1 are shown (see all 31 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 26)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs886363^1,2	C,F,H	2206336(+)	`GTCCCG/AGGCCA`	1	--	ut5¹ ese³		8		NA EA MN EU WA	844
	rs6510653^1,2	A,C,F	2209223(+)	`TTGACA/GTGTTC`	1	--	ng3¹ tfbs³		2		NA	182
	rs7250822^1,2	A,F,H	2206311(+)	`ATGGAC/GATGGC`	1	I	mis¹ ese³		4		EU EA WA	418
--	rs10426549^1,2	A,C	2204780(+)	`CGGGGA/GCGCTC`	1	V/A	mis¹ ese³		0	--	--	--	--
	rs35356610^1,2	C,F	2203626(-)	`AGACCG/AGGGAC`	1	Q/R	mis¹		1		NA	58
--	rs7258448^1,2	C	2208230(+)	`CCGGGC/GTCTCT`	1	--	ng3¹		0	--	--	--	--
--	rs2079160^1,2	A	2207753(+)	`TTCCCC/GTGCCT`	1	--	ng3¹		0	--	--	--	--
--	rs10409081^1,2	C	2208514(+)	`attagC/Tgaggc`	1	--	ng3¹ tfbs³		0	--	--	--	--
	rs3746158^1,2	A,C,F,H	2204590(-)	`GGGGCA/GAGGCT`	1	--	int¹		4		EA EU NA	1790
	rs3787013^1,2	A,C,F	2205408(-)	`CAGGAC/TGCCTG`	1	--	int¹		1		EA	746

About this table

HapMap Linkage Disequilibrium images for JSRP1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 608743

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

6 PubMed articles for JSRP1 gene:

The novel skeletal muscle sarcoplasmic reticulum JP-45 protein. Molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel. (PubMed id 12871958)^{1, 2, 3} Anderson A.A....Zorzato F. (2003)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle. (PubMed id 16423849)^{1, 3} Gouadon E....Melzer W. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. (PubMed id 18077436)¹ Delbono O....Zorzato F. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 126306	HGNC: 24963	AceView: FLJ32416	Ensembl:ENSG00000167476	euGenes: HUgn126306
ECgene: JSRP1	H-InvDB: JSRP1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for JSRP1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for JSRP1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for JSRP1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for JSRP1		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Browse shRNAs at Sigma-Aldrich		Browse small molecules at Sigma-Aldrich
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	Recombinant & Natural Proteins

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JSRP1 Gene

protein-coding GIFtS: 44

Aliases &
Descriptions
for JSRP1

Summaries
for JSRP1

Genomic Location
for JSRP1

Proteins
for JSRP1

Protein Domains/
Families
for JSRP1

Gene Function
for JSRP1

Pathways & Interactions
for JSRP1

Drugs & Compounds
for JSRP1

Transcripts
for JSRP1

Expression
for JSRP1

Orthologs
for JSRP1

Paralogs
for JSRP1

SNPs/Variants
for JSRP1

Disorders & Mutations
for JSRP1

Medical News
for JSRP1

Publications
for JSRP1

Search for JSRP1

Genome Databases showing JSRP1

Other Databases showing JSRP1

Specialized Databases showing JSRP1

Licensable Technologies
for JSRP1

Services
for JSRP1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

JSRP1 Gene

protein-coding GIFtS: 44

Aliases & Descriptionsfor JSRP1

Summariesfor JSRP1

Genomic Locationfor JSRP1

Proteinsfor JSRP1

Protein Domains/Familiesfor JSRP1

Gene Functionfor JSRP1

Pathways & Interactionsfor JSRP1

Drugs & Compoundsfor JSRP1

Transcriptsfor JSRP1

Expression for JSRP1

Orthologsfor JSRP1

Paralogsfor JSRP1

SNPs/Variantsfor JSRP1

Disorders & Mutationsfor JSRP1

Medical Newsfor JSRP1

Publicationsfor JSRP1

Search for JSRP1

Genome Databases showing JSRP1

Other Databases showing JSRP1

Specialized Databases showing JSRP1

Licensable Technologiesfor JSRP1

Servicesfor JSRP1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for JSRP1

Summaries
for JSRP1

Genomic Location
for JSRP1

Proteins
for JSRP1

Protein Domains/
Families
for JSRP1

Gene Function
for JSRP1

Pathways & Interactions
for JSRP1

Drugs & Compounds
for JSRP1

Transcripts
for JSRP1

Expression
for JSRP1

Orthologs
for JSRP1

Paralogs
for JSRP1

SNPs/Variants
for JSRP1

Disorders & Mutations
for JSRP1

Medical News
for JSRP1

Publications
for JSRP1

Licensable Technologies
for JSRP1

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