Q96JJ6 (JPH4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Junctophilin-4
Short name=JP-4

Alternative name(s):
Junctophilin-like 1 protein

Gene names

Name:	JPH4
Synonyms:	JPHL1, KIAA1831

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	628 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. JPH4 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory By similarity.
Subcellular location	Cell membrane; Peripheral membrane protein By similarity. Endoplasmic reticulum membrane; Single-pass type IV membrane protein By similarity. 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 By similarity.
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 8 MORN repeats.
Sequence caution	The sequence BAB47460.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAB70905.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Cell membrane Endoplasmic reticulum Membrane
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium ion transport into cytosol Traceable author statement PubMed 19095005. Source: BHF-UCL regulation of ryanodine-sensitive calcium-release channel activity Traceable author statement PubMed 19095005. Source: BHF-UCL
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW junctional sarcoplasmic reticulum membrane Traceable author statement PubMed 19095005. Source: BHF-UCL 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 – 628	628	Junctophilin-4		PRO_0000159852
Regions
	Topological domain	1 – 606	606	Cytoplasmic Potential
	Transmembrane	607 – 628	22	Helical; Anchor for type IV membrane protein; Potential
	Repeat	50 – 72	23	MORN 1
	Repeat	74 – 95	22	MORN 2
	Repeat	96 – 117	22	MORN 3
	Repeat	118 – 140	23	MORN 4
	Repeat	141 – 163	23	MORN 5
	Repeat	164 – 186	23	MORN 6
	Repeat	317 – 339	23	MORN 7
	Repeat	340 – 362	23	MORN 8
	Compositional bias	170 – 180	11	Poly-Pro
Experimental info
	Sequence conflict	313	1	R → Q in AAH55429. Ref.3
	Sequence conflict	580	1	P → H in AAH55429. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q96JJ6 [UniParc]. Last modified September 9, 2003. Version 2. Checksum: 60E7CF537FAF5D37	FASTA	628	65,861
	10 20 30 40 50 60 MSPGGKFDFD DGGCYVGGWE AGRAHGYGVC TGPGAQGEYS GCWAHGFESL GVFTGPGGHS 70 80 90 100 110 120 YQGHWQQGKR EGLGVERKSR WTYRGEWLGG LKGRSGVWES VSGLRYAGLW KDGFQDGYGT 130 140 150 160 170 180 ETYSDGGTYQ GQWQAGKRHG YGVRQSVPYH QAALLRSPRR TSLDSGHSDP PTPPPPLPLP 190 200 210 220 230 240 GDEGGSPASG SRGGFVLAGP GDADGASSRK RTPAAGGFFR RSLLLSGLRA GGRRSSLGSK 250 260 270 280 290 300 RGSLRSEVSS EVGSTGPPGS EASGPPAAAP PALIEGSATE VYAGEWRADR RSGFGVSQRS 310 320 330 340 350 360 NGLRYEGEWL GNRRHGYGRT TRPDGSREEG KYKRNRLVHG GRVRSLLPLA LRRGKVKEKV 370 380 390 400 410 420 DRAVEGARRA VSAARQRQEI AAARAADALL KAVAASSVAE KAVEAARMAK LIAQDLQPML 430 440 450 460 470 480 EAPGRRPRQD SEGSDTEPLD EDSPGVYENG LTPSEGSPEL PSSPASSRQP WRPPACRSPL 490 500 510 520 530 540 PPGGDQGPFS SPKAWPEEWG GAGAQAEELA GYEAEDEAGM QGPGPRDGSP LLGGCSDSSG 550 560 570 580 590 600 SLREEEGEDE EPLPPLRAPA GTEPEPIAML VLRGSSSRGP DAGCLTEELG EPAATERPAQ 610 620 PGAANPLVVG AVALLDLSLA FLFSQLLT

References

[1]	"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[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 (SEP-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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 334-628. Tissue: Brain.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-628. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB058734 mRNA. Translation: BAB47460.1. Different initiation. CH471078 Genomic DNA. Translation: EAW66135.1. CH471078 Genomic DNA. Translation: EAW66139.1. BC055429 mRNA. Translation: AAH55429.1. AL834411 mRNA. Translation: CAD39073.1. AK055345 mRNA. Translation: BAB70905.1. Different initiation.
IPI	IPI01025785.
RefSeq	NP_001139500.1. NM_001146028.1. NP_115828.2. NM_032452.2.
UniGene	Hs.597841.
3D structure databases
ProteinModelPortal	Q96JJ6.
SMR	Q96JJ6. Positions 7-46, 105-146, 282-337.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96JJ6. 1 interaction.
Polymorphism databases
DMDM	34582362.
Proteomic databases
PaxDb	Q96JJ6.
PRIDE	Q96JJ6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356300; ENSP00000348648; ENSG00000092051. ENST00000397118; ENSP00000380307; ENSG00000092051. ENST00000543864; ENSP00000445800; ENSG00000092051.
GeneID	84502.
KEGG	hsa:84502.
UCSC	uc001wkq.2. human.
Organism-specific databases
CTD	84502.
GeneCards	GC14M024037.
HGNC	HGNC:20156. JPH4.
HPA	CAB013492.
neXtProt	NX_Q96JJ6.
PharmGKB	PA134897649.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG329743.
HOGENOM	HOG000264244.
HOVERGEN	HBG031648.
OrthoDB	EOG4T4CV7.
Gene expression databases
ArrayExpress	Q96JJ6.
Bgee	Q96JJ6.
CleanEx	HS_JPH4.
Genevestigator	Q96JJ6.
GermOnline	ENSG00000092051. 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
GenomeRNAi	84502.
NextBio	74290.

Entry information

Entry name

JPH4_HUMAN

Accession

Primary (citable) accession number: Q96JJ6
Secondary accession number(s): D3DS53, Q8ND44, Q96DQ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 9, 2003
Last sequence update:	September 9, 2003
Last modified:	May 1, 2013
This is version 91 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.