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Q96JJ6

- JPH4_HUMAN

UniProt

Q96JJ6 - JPH4_HUMAN

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Protein
Junctophilin-4
Gene
JPH4, JPHL1, KIAA1831
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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.

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
Complete GO annotation...

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; 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 606606Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei607 – 62822Helical; Anchor for type IV membrane protein; Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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-4
PRO_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.

Family & Domainsi

Domains and Repeats

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

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi170 – 18011Poly-Pro
Add
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.
Contains 8 MORN repeats.

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.

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti313 – 3131R → Q in AAH55429. 1 Publication
Sequence conflicti580 – 5801P → H in AAH55429. 1 Publication

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: July 9, 2014
This is version 100 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

Similar proteinsi