Q9ET77 (JPH3_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Junctophilin-3
Short name=JP-3

Alternative name(s):
Junctophilin type 3

Gene names

Name:	Jph3
Synonyms:	Jp3

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	744 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory. Ref.4 Ref.6
Subcellular location	Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Note: Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. Ref.1 Ref.6
Tissue specificity	Specifically expressed in brain. Highest levels in the olfactory tubercle, caudate putamen, nucleus accumbens, hippocampal formation, piriform cortex and cerebellar cortex. Expressed in disctete neurons sites. In hippocampal formation, expressed in dendrites of hippocampal pyramidal and denate granule cells. In cerebellum, it is highly expressed in Purkinge cells, while it is weakly expressed in granular cells. Ref.4 Ref.6
Domain	The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids By similarity.
Disruption phenotype	Mice are viable and fertile but have defects in balance/motor coordination tasks. Double Jph3-Jph4 null mutants exhibit atypical depolarizing responses, irregular cerebellar plasticity due to abolished crosstalk in Purkinje cells. There is hyperphosphorylation of PRKCG and mild impairment of synaptic maturation. Exploratory activity, hippocampal plasticity and memory are impaired and there is abnormal foot-clasping reflex. Ref.4 Ref.6 Ref.7
Sequence similarities	Belongs to the junctophilin family. Contains 8 MORN repeats.
Sequence caution	The sequence BAC38666.1 differs from that shown. Reason: Erroneous termination at position 745. Translated as stop.

Ontologies

Keywords
Cellular component	Cell membrane Endoplasmic reticulum Membrane
Domain	Repeat Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	exploration behavior Inferred from mutant phenotype Ref.6. Source: UniProtKB locomotion Inferred from mutant phenotype Ref.4. Source: MGI memory Inferred from mutant phenotype Ref.6. Source: UniProtKB regulation of neuronal synaptic plasticity Inferred from mutant phenotype Ref.6. Source: UniProtKB regulation of ryanodine-sensitive calcium-release channel activity Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular component	endoplasmic reticulum membrane Inferred from direct assay Ref.6. Source: UniProtKB integral to membrane Traceable author statement Ref.4. Source: MGI junctional membrane complex Inferred from direct assay Ref.6. Source: UniProtKB microsome Inferred from direct assay. Source: MGI plasma membrane Inferred from direct assay Ref.6. Source: UniProtKB
Molecular function	calcium-release channel activity Inferred from mutant phenotype Ref.6. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 744	744	Junctophilin-3		PRO_0000159851
Regions
	Topological domain	1 – 723	723	Cytoplasmic Potential
	Transmembrane	724 – 744	21	Helical; Anchor for type IV membrane protein; Potential
	Repeat	15 – 37	23	MORN 1
	Repeat	39 – 60	22	MORN 2
	Repeat	61 – 82	22	MORN 3
	Repeat	83 – 105	23	MORN 4
	Repeat	107 – 129	23	MORN 5
	Repeat	130 – 152	23	MORN 6
	Repeat	288 – 310	23	MORN 7
	Repeat	311 – 333	23	MORN 8
	Compositional bias	4 – 143	140	Gly-rich
	Compositional bias	366 – 416	51	Ala-rich
Amino acid modifications
	Modified residue	420	1	Phosphoserine Ref.8
	Modified residue	506	1	Phosphoserine Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9ET77 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 3D72AED6A6FDA914	FASTA	744	81,229
	10 20 30 40 50 60 MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL GVYTWPSGNT 70 80 90 100 110 120 YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC TGNGAKYEGT WSNGLQDGYG 130 140 150 160 170 180 TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY GMAAVIRSPL RTSINSLRSE HTNGAALHPD 190 200 210 220 230 240 ASPAVAGSPA VSRGGFVLVA HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK 250 260 270 280 290 300 QSSFRSEAGM STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF 310 320 330 340 350 360 GVSQRSDGLK YEGEWVSNRR HGYGCMTFPD GTKEEGKYKQ NVLVSGKRKN LIPLRASKIR 370 380 390 400 410 420 EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT AAQKAQEEAR IARITAKEFS 430 440 450 460 470 480 PSFQHRENGL EYQRPKHQMS CDDIEVLSTG TPLQQESPEL YRKGTTPSDL TPDDSPLQSF 490 500 510 520 530 540 PASPTSTPPP APASRTKMAH FSRQVSVDEE RSGDIQMLLE GRGGDYARNS WGEEKAGASR 550 560 570 580 590 600 GIRSGALRSG QPTEDFRTRG SGHKQPGNPK PRERRTESPT TFSWTSHHRA GNPCSGGPKL 610 620 630 640 650 660 LEPDEEQLSN YKLEMKPLLR MDACPQDTHP QRRRHSRGAG GDRGFGLQRL RSKSQNKENL 670 680 690 700 710 720 RPASSAEPTV QKLESLRLGD RPEPRLLRWD LTFSPPQKSL PVALESDEET GDELKSSTGS 730 740 APILVVMVIL LNIGVAILFI NFFI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Junctophilins: a novel family of junctional membrane complex proteins." Takeshima H., Komazaki S., Nishi M., Iino M., Kangawa K. Mol. Cell 6:11-22(2000) [PubMed: 10949023] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], SUBCELLULAR LOCATION. Strain: 129 and C57BL/6J. Tissue: Brain.
[2]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed: 16141072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: C57BL/6J.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Motor discoordination in mutant mice lacking junctophilin type 3." Nishi M., Hashimoto K., Kuriyama K., Komazaki S., Kano M., Shibata S., Takeshima H. Biochem. Biophys. Res. Commun. 292:318-324(2002) [PubMed: 11906164] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
[5]	"Comprehensive identification of phosphorylation sites in postsynaptic density preparations." Trinidad J.C., Specht C.G., Thalhammer A., Schoepfer R., Burlingame A.L. Mol. Cell. Proteomics 5:914-922(2006) [PubMed: 16452087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-506, MASS SPECTROMETRY. Tissue: Brain.
[6]	"Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins." Moriguchi S., Nishi M., Komazaki S., Sakagami H., Miyazaki T., Masumiya H., Saito S.Y., Watanabe M., Kondo H., Yawo H., Fukunaga K., Takeshima H. Proc. Natl. Acad. Sci. U.S.A. 103:10811-10816(2006) [PubMed: 16809425] [Abstract] Cited for: DISRUPTION PHENOTYPE, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[7]	"Abnormal features in mutant cerebellar Purkinje cells lacking junctophilins." Ikeda A., Miyazaki T., Kakizawa S., Okuno Y., Tsuchiya S., Myomoto A., Saito S.Y., Yamamoto T., Yamazaki T., Iino M., Tsujimoto G., Watanabe M., Takeshima H. Biochem. Biophys. Res. Commun. 363:835-839(2007) [PubMed: 17904530] [Abstract] Cited for: DISRUPTION PHENOTYPE.
[8]	"Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations." Munton R.P., Tweedie-Cullen R., Livingstone-Zatchej M., Weinandy F., Waidelich M., Longo D., Gehrig P., Potthast F., Rutishauser D., Gerrits B., Panse C., Schlapbach R., Mansuy I.M. Mol. Cell. Proteomics 6:283-293(2007) [PubMed: 17114649] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420, MASS SPECTROMETRY. Tissue: Brain cortex.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB024449 mRNA. Translation: BAB12046.1. AB024450 Genomic DNA. Translation: BAB20320.1. AK082880 mRNA. Translation: BAC38666.1. Sequence problems. BC103682 mRNA. Translation: AAI03683.1. BC104736 mRNA. Translation: AAI04737.1. BC105307 mRNA. Translation: AAI05308.1.
IPI	IPI00113636.
RefSeq	NP_065630.1. NM_020605.3.
UniGene	Mm.306870.
3D structure databases
ProteinModelPortal	Q9ET77.
SMR	Q9ET77. Positions 31-145, 282-360.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9ET77.
PTM databases
PhosphoSite	Q9ET77.
Proteomic databases
PRIDE	Q9ET77.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000026357; ENSMUSP00000026357; ENSMUSG00000025318. ENSMUST00000167439; ENSMUSP00000126190; ENSMUSG00000025318.
GeneID	57340.
KEGG	mmu:57340.
UCSC	uc009nrz.1. mouse.
Organism-specific databases
CTD	57338.
MGI	MGI:1891497. Jph3.
Phylogenomic databases
GeneTree	ENSGT00600000084242.
HOGENOM	HBG715737.
HOVERGEN	HBG031648.
InParanoid	Q9ET77.
OMA	NGLEYQR.
OrthoDB	EOG4F7NJZ.
PhylomeDB	Q9ET77.
Gene expression databases
ArrayExpress	Q9ET77.
Bgee	Q9ET77.
CleanEx	MM_JPH3.
Genevestigator	Q9ET77.
GermOnline	ENSMUSG00000025318. Mus musculus.
Family and domain databases
InterPro	IPR017191. Junctophilin. IPR003409. MORN. [Graphical view]
Pfam	PF02493. MORN. 8 hits. [Graphical view]
PIRSF	PIRSF037387. Junctophilin. 1 hit.
SMART	SM00698. MORN. 7 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	313702.
SOURCE	Search...

Entry information

Entry name

JPH3_MOUSE

Accession

Primary (citable) accession number: Q9ET77
Secondary accession number(s): Q3ZAS3, Q8BNM7, Q9EQZ2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 17, 2003
Last sequence update:	March 1, 2001
Last modified:	October 19, 2011
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program