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Q96JJ6 (JPH4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Junctophilin-4

Short name=JP-4
Alternative name(s):
Junctophilin-like 1 protein
Gene names
Name:JPH4
Synonyms:JPHL1, KIAA1831
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length628 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 628628Junctophilin-4
PRO_0000159852

Regions

Topological domain1 – 606606Cytoplasmic Potential
Transmembrane607 – 62822Helical; Anchor for type IV membrane protein; Potential
Repeat50 – 7223MORN 1
Repeat74 – 9522MORN 2
Repeat96 – 11722MORN 3
Repeat118 – 14023MORN 4
Repeat141 – 16323MORN 5
Repeat164 – 18623MORN 6
Repeat317 – 33923MORN 7
Repeat340 – 36223MORN 8
Compositional bias170 – 18011Poly-Pro

Experimental info

Sequence conflict3131R → Q in AAH55429. Ref.3
Sequence conflict5801P → H in AAH55429. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q96JJ6 [UniParc].

Last modified September 9, 2003. Version 2.
Checksum: 60E7CF537FAF5D37

FASTA62865,861
        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 

« Hide

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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001139500.1. NM_001146028.1.
NP_115828.2. NM_032452.2.
UniGeneHs.597841.

3D structure databases

ProteinModelPortalQ96JJ6.
SMRQ96JJ6. Positions 8-46, 60-175, 280-339.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124103. 1 interaction.
IntActQ96JJ6. 1 interaction.

Polymorphism databases

DMDM34582362.

Proteomic databases

PaxDbQ96JJ6.
PRIDEQ96JJ6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356300; ENSP00000348648; ENSG00000092051.
ENST00000397118; ENSP00000380307; ENSG00000092051.
GeneID84502.
KEGGhsa:84502.
UCSCuc001wkq.2. human.

Organism-specific databases

CTD84502.
GeneCardsGC14M024037.
HGNCHGNC:20156. JPH4.
HPACAB013492.
HPA054232.
neXtProtNX_Q96JJ6.
PharmGKBPA134897649.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG329743.
HOGENOMHOG000264244.
HOVERGENHBG031648.
OMAPEAGCLM.
OrthoDBEOG7J4463.
PhylomeDBQ96JJ6.
TreeFamTF317210.

Gene expression databases

ArrayExpressQ96JJ6.
BgeeQ96JJ6.
CleanExHS_JPH4.
GenevestigatorQ96JJ6.

Family and domain databases

InterProIPR017191. Junctophilin.
IPR003409. MORN.
[Graphical view]
PfamPF02493. MORN. 8 hits.
[Graphical view]
PIRSFPIRSF037387. Junctophilin. 1 hit.
SMARTSM00698. MORN. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84502.
NextBio74290.
PROQ96JJ6.

Entry information

Entry nameJPH4_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM