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Q96JJ6

- JPH4_HUMAN

UniProt

Q96JJ6 - JPH4_HUMAN

Protein

Junctophilin-4

Gene

JPH4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 2 (09 Sep 2003)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Biological processi

    1. calcium ion transport into cytosol Source: BHF-UCL
    2. learning Source: Ensembl
    3. neuromuscular process controlling balance Source: Ensembl
    4. regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
    5. regulation of synaptic plasticity Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Junctophilin-4
    Short name:
    JP-4
    Alternative name(s):
    Junctophilin-like 1 protein
    Gene namesi
    Name:JPH4
    Synonyms:JPHL1, KIAA1831
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20156. JPH4.

    Subcellular locationi

    Cell membrane By similarity; Peripheral membrane protein By similarity. Endoplasmic reticulum membrane By similarity; 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.By similarity

    GO - Cellular componenti

    1. dendritic shaft Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW
    3. junctional sarcoplasmic reticulum membrane Source: BHF-UCL
    4. plasma membrane Source: UniProtKB-SubCell
    5. smooth endoplasmic reticulum Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134897649.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 628628Junctophilin-4PRO_0000159852Add
    BLAST

    Proteomic databases

    PaxDbiQ96JJ6.
    PRIDEiQ96JJ6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96JJ6.
    BgeeiQ96JJ6.
    CleanExiHS_JPH4.
    GenevestigatoriQ96JJ6.

    Organism-specific databases

    HPAiCAB013492.
    HPA054232.

    Interactioni

    Protein-protein interaction databases

    BioGridi124103. 1 interaction.
    IntActiQ96JJ6. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96JJ6.
    SMRiQ96JJ6. Positions 8-46, 60-175, 280-339.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 606606CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei607 – 62822Helical; Anchor for type IV membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati50 – 7223MORN 1Add
    BLAST
    Repeati74 – 9522MORN 2Add
    BLAST
    Repeati96 – 11722MORN 3Add
    BLAST
    Repeati118 – 14023MORN 4Add
    BLAST
    Repeati141 – 16323MORN 5Add
    BLAST
    Repeati164 – 18623MORN 6Add
    BLAST
    Repeati317 – 33923MORN 7Add
    BLAST
    Repeati340 – 36223MORN 8Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi170 – 18011Poly-ProAdd
    BLAST

    Domaini

    The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.By similarity

    Sequence similaritiesi

    Belongs to the junctophilin family.Curated
    Contains 8 MORN repeats.Curated

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG329743.
    HOGENOMiHOG000264244.
    HOVERGENiHBG031648.
    OMAiPEAGCLM.
    OrthoDBiEOG7J4463.
    PhylomeDBiQ96JJ6.
    TreeFamiTF317210.

    Family and domain databases

    InterProiIPR017191. Junctophilin.
    IPR003409. MORN.
    [Graphical view]
    PfamiPF02493. MORN. 8 hits.
    [Graphical view]
    PIRSFiPIRSF037387. Junctophilin. 1 hit.
    SMARTiSM00698. MORN. 6 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96JJ6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSPGGKFDFD DGGCYVGGWE AGRAHGYGVC TGPGAQGEYS GCWAHGFESL    50
    GVFTGPGGHS YQGHWQQGKR EGLGVERKSR WTYRGEWLGG LKGRSGVWES 100
    VSGLRYAGLW KDGFQDGYGT ETYSDGGTYQ GQWQAGKRHG YGVRQSVPYH 150
    QAALLRSPRR TSLDSGHSDP PTPPPPLPLP GDEGGSPASG SRGGFVLAGP 200
    GDADGASSRK RTPAAGGFFR RSLLLSGLRA GGRRSSLGSK RGSLRSEVSS 250
    EVGSTGPPGS EASGPPAAAP PALIEGSATE VYAGEWRADR RSGFGVSQRS 300
    NGLRYEGEWL GNRRHGYGRT TRPDGSREEG KYKRNRLVHG GRVRSLLPLA 350
    LRRGKVKEKV DRAVEGARRA VSAARQRQEI AAARAADALL KAVAASSVAE 400
    KAVEAARMAK LIAQDLQPML EAPGRRPRQD SEGSDTEPLD EDSPGVYENG 450
    LTPSEGSPEL PSSPASSRQP WRPPACRSPL PPGGDQGPFS SPKAWPEEWG 500
    GAGAQAEELA GYEAEDEAGM QGPGPRDGSP LLGGCSDSSG SLREEEGEDE 550
    EPLPPLRAPA GTEPEPIAML VLRGSSSRGP DAGCLTEELG EPAATERPAQ 600
    PGAANPLVVG AVALLDLSLA FLFSQLLT 628
    Length:628
    Mass (Da):65,861
    Last modified:September 9, 2003 - v2
    Checksum:i60E7CF537FAF5D37
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti313 – 3131R → Q in AAH55429. (PubMed:15489334)Curated
    Sequence conflicti580 – 5801P → H in AAH55429. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS9603.1.
    RefSeqiNP_001139500.1. NM_001146028.1.
    NP_115828.2. NM_032452.2.
    UniGeneiHs.597841.

    Genome annotation databases

    EnsembliENST00000356300; ENSP00000348648; ENSG00000092051.
    ENST00000397118; ENSP00000380307; ENSG00000092051.
    GeneIDi84502.
    KEGGihsa:84502.
    UCSCiuc001wkq.2. human.

    Polymorphism databases

    DMDMi34582362.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS9603.1.
    RefSeqi NP_001139500.1. NM_001146028.1.
    NP_115828.2. NM_032452.2.
    UniGenei Hs.597841.

    3D structure databases

    ProteinModelPortali Q96JJ6.
    SMRi Q96JJ6. Positions 8-46, 60-175, 280-339.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124103. 1 interaction.
    IntActi Q96JJ6. 1 interaction.

    Polymorphism databases

    DMDMi 34582362.

    Proteomic databases

    PaxDbi Q96JJ6.
    PRIDEi Q96JJ6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000356300 ; ENSP00000348648 ; ENSG00000092051 .
    ENST00000397118 ; ENSP00000380307 ; ENSG00000092051 .
    GeneIDi 84502.
    KEGGi hsa:84502.
    UCSCi uc001wkq.2. human.

    Organism-specific databases

    CTDi 84502.
    GeneCardsi GC14M024037.
    HGNCi HGNC:20156. JPH4.
    HPAi CAB013492.
    HPA054232.
    neXtProti NX_Q96JJ6.
    PharmGKBi PA134897649.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG329743.
    HOGENOMi HOG000264244.
    HOVERGENi HBG031648.
    OMAi PEAGCLM.
    OrthoDBi EOG7J4463.
    PhylomeDBi Q96JJ6.
    TreeFami TF317210.

    Miscellaneous databases

    GenomeRNAii 84502.
    NextBioi 74290.
    PROi Q96JJ6.

    Gene expression databases

    ArrayExpressi Q96JJ6.
    Bgeei Q96JJ6.
    CleanExi HS_JPH4.
    Genevestigatori Q96JJ6.

    Family and domain databases

    InterProi IPR017191. Junctophilin.
    IPR003409. MORN.
    [Graphical view ]
    Pfami PF02493. MORN. 8 hits.
    [Graphical view ]
    PIRSFi PIRSF037387. Junctophilin. 1 hit.
    SMARTi SM00698. MORN. 6 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. 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.

    Entry informationi

    Entry nameiJPH4_HUMAN
    AccessioniPrimary (citable) accession number: Q96JJ6
    Secondary accession number(s): D3DS53, Q8ND44, Q96DQ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 9, 2003
    Last sequence update: September 9, 2003
    Last modified: October 1, 2014
    This is version 101 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3