Q9HDC5 (JPH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Junctophilin-1
Short name=JP-1

Alternative name(s):
Junctophilin type 1

Gene names

Name:	JPH1
Synonyms:	JP1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	661 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. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes.
Subcellular location	Cell membrane; Peripheral membrane protein By similarity. Endoplasmic reticulum membrane; Single-pass type IV membrane protein By similarity. Sarcoplasmic reticulum membrane; Single-pass type IV membrane protein By similarity. Note: Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In skeletal muscle cells, it is predominantly localized at the junction of the A and I bands By similarity.
Tissue specificity	Abundantly expressed in skeletal muscle. Very low levels in heart. Ref.4
Domain	The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids By similarity.
Sequence similarities	Belongs to the junctophilin family. Contains 7 MORN repeats.

Ontologies

Keywords
Cellular component	Cell membrane Endoplasmic reticulum Membrane Sarcoplasmic reticulum
Coding sequence diversity	Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	calcium ion transport into cytosol Traceable author statement. Source: BHF-UCL regulation of ryanodine-sensitive calcium-release channel activity Traceable author statement. Source: BHF-UCL
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW junctional membrane complex Non-traceable author statement Ref.4. Source: UniProtKB junctional sarcoplasmic reticulum membrane Traceable author statement. Source: BHF-UCL nucleus Inferred from direct assay. Source: HPA plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 661	661	Junctophilin-1		PRO_0000159844
Regions
	Topological domain	1 – 639	639	Cytoplasmic Potential
	Transmembrane	640 – 660	21	Helical; Anchor for type IV membrane protein; Potential
	Repeat	14 – 36	23	MORN 1
	Repeat	38 – 59	22	MORN 2
	Repeat	60 – 82	23	MORN 3
	Repeat	106 – 128	23	MORN 4
	Repeat	129 – 151	23	MORN 5
	Repeat	281 – 303	23	MORN 6
	Repeat	304 – 326	23	MORN 7
	Compositional bias	3 – 142	140	Gly-rich
	Compositional bias	226 – 258	33	Ser-rich
	Compositional bias	359 – 409	51	Ala-rich
Amino acid modifications
	Modified residue	157	1	Phosphoserine Ref.6
	Modified residue	216	1	Phosphoserine Ref.6
	Modified residue	220	1	Phosphoserine Ref.6
	Modified residue	448	1	Phosphothreonine Ref.5 Ref.6
	Modified residue	452	1	Phosphoserine Ref.5 Ref.6
	Modified residue	460	1	Phosphothreonine Ref.7
	Modified residue	461	1	Phosphothreonine Ref.6 Ref.7
	Modified residue	465	1	Phosphoserine Ref.6 Ref.7
	Modified residue	469	1	Phosphoserine Ref.6 Ref.7
Natural variations
	Natural variant	507	1	T → M. Corresponds to variant rs16938829 [ dbSNP | Ensembl ].		VAR_053445
	Natural variant	624	1	D → H. Corresponds to variant rs16938828 [ dbSNP | Ensembl ].		VAR_053446

Sequences

	Sequence		Length	Mass (Da)
	Q9HDC5 [UniParc]. Last modified January 17, 2003. Version 2. Checksum: D54DC069174F25B2	FASTA	661	71,686
	10 20 30 40 50 60 MTGGRFDFDD GGTYCGGWEE GKAHGHGICT GPKGQGEYSG SWSHGFEVVG GYTWPSGNTY 70 80 90 100 110 120 QGYWAQGKRH GLGVETKGKW MYRGEWSHGF KGRYGVRQSL CTPARYEGTW SNGLQDGYGV 130 140 150 160 170 180 ETYGDGGTYQ GQWAGGMRHG YGVRQSVPYG MATVIRSPLR TSLASLRSEQ SNGSVLHDAA 190 200 210 220 230 240 AAADSPAGTR GGFVLNFHAD AELAGKKKGG LFRRGSLLGS MKLRKSESKS SISSKRSSVR 250 260 270 280 290 300 SDAAMSRISS SDANSTISFG DVDCDFCPVE DHVDATTTET YMGEWKNDKR NGFGVSERSN 310 320 330 340 350 360 GMKYEGEWAN NKRHGYGCTV FPDGSKEEGK YKNNILVRGI RKQLIPIRHT KTREKVDRAI 370 380 390 400 410 420 EGAQRAAAMA RTKVEIANSR TAHARAKADA ADQAALAARQ ECDIARAVAR ELSPDFYQPG 430 440 450 460 470 480 PDYVKQRFQE GVDAKENPEE KVPEKPPTPK ESPHFYRKGT TPPRSPEASP KHSHSPASSP 490 500 510 520 530 540 KPLKKQNPSS GARLNQDKRS VADEQVTAIV NKPLMSKAPT KEAGAVVPQS KYSGRHHIPN 550 560 570 580 590 600 PSNGELHSQY HGYYVKLNAP QHPPVDVEDG DGSSQSSSAL VHKPSANKWS PSKSVTKPVA 610 620 630 640 650 660 KESKAEPKAK KSELAIPKNP ASNDSCPALE KEANSGPNSI MIVLVMLLNI GLAILFVHFL T

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed: 16421571] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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]	"Characterization of human junctophilin subtype genes." Nishi M., Mizushima A., Nakagawara K., Takeshima H. Biochem. Biophys. Res. Commun. 273:920-927(2000) [PubMed: 10891348] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 421-661, TISSUE SPECIFICITY.
[5]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-448 AND SER-452, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-157; SER-216; SER-220; THR-448; SER-452; THR-461; SER-465 AND SER-469, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-460; THR-461; SER-465 AND SER-469, MASS SPECTROMETRY. Tissue: Embryonic kidney.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF110324 Genomic DNA. No translation available. CH471068 Genomic DNA. Translation: EAW87029.1. BC140875 mRNA. Translation: AAI40876.1. BC140876 mRNA. Translation: AAI40877.1. AB042635 Genomic DNA. Translation: BAB11986.1.
IPI	IPI00173461.
RefSeq	NP_065698.1. NM_020647.2.
UniGene	Hs.657367.
3D structure databases
ProteinModelPortal	Q9HDC5.
SMR	Q9HDC5. Positions 78-144, 275-337.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HDC5. 2 interactions.
STRING	Q9HDC5.
PTM databases
PhosphoSite	Q9HDC5.
Polymorphism databases
DMDM	27805492.
Proteomic databases
PRIDE	Q9HDC5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342232; ENSP00000344488; ENSG00000104369.
GeneID	56704.
KEGG	hsa:56704.
UCSC	uc003yae.1. human.
Organism-specific databases
CTD	56704.
GeneCards	GC08M075199.
H-InvDB	HIX0025565.
HGNC	HGNC:14201. JPH1.
HPA	CAB013461. HPA008996. HPA009413.
MIM	605266. gene.
neXtProt	NX_Q9HDC5.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00600000084242.
HOGENOM	HBG715737.
HOVERGEN	HBG031648.
InParanoid	Q9HDC5.
OMA	KWSPSKS.
OrthoDB	EOG4FXR8M.
PhylomeDB	Q9HDC5.
Gene expression databases
ArrayExpress	Q9HDC5.
Bgee	Q9HDC5.
CleanEx	HS_JPH1.
Genevestigator	Q9HDC5.
GermOnline	ENSG00000104369. Homo sapiens.
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. 6 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	62200.
SOURCE	Search...

Entry information

Entry name

JPH1_HUMAN

Accession

Primary (citable) accession number: Q9HDC5
Secondary accession number(s): B2RTZ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 17, 2003
Last sequence update:	January 17, 2003
Last modified:	January 25, 2012
This is version 80 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.