JPH4_HUMAN
ID JPH4_HUMAN Reviewed; 628 AA.
AC Q96JJ6; D3DS53; Q8ND44; Q96DQ0;
DT 09-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 09-SEP-2003, sequence version 2.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Junctophilin-4;
DE Short=JP-4;
DE AltName: Full=Junctophilin-like 1 protein;
GN Name=JPH4; Synonyms=JPHL1, KIAA1831;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 334-628.
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-628.
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- FUNCTION: Junctophilins contribute to the formation of junctional
CC membrane complexes (JMCs) which link the plasma membrane with the
CC endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a
CC structural foundation for functional cross-talk between the cell
CC surface and intracellular calcium release channels. JPH4 is brain-
CC specific and appears to have an active role in certain neurons involved
CC in motor coordination and memory (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q96JJ6; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-2847044, EBI-741480;
CC Q96JJ6; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-2847044, EBI-947187;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane
CC protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250};
CC Single-pass type IV membrane protein {ECO:0000250}. Note=Localized
CC predominantly on the plasma membrane. The transmembrane domain is
CC anchored in endoplasmic reticulum membrane, while the N-terminal part
CC associates with the plasma membrane (By similarity). {ECO:0000250}.
CC -!- DOMAIN: The MORN (membrane occupation and recognition nexus) repeats
CC contribute to the plasma membrane binding, possibly by interacting with
CC phospholipids. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the junctophilin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB47460.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB70905.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB058734; BAB47460.1; ALT_INIT; mRNA.
DR EMBL; CH471078; EAW66135.1; -; Genomic_DNA.
DR EMBL; CH471078; EAW66139.1; -; Genomic_DNA.
DR EMBL; BC055429; AAH55429.1; -; mRNA.
DR EMBL; AL834411; CAD39073.1; -; mRNA.
DR EMBL; AK055345; BAB70905.1; ALT_INIT; mRNA.
DR CCDS; CCDS9603.1; -.
DR RefSeq; NP_001139500.1; NM_001146028.1.
DR RefSeq; NP_115828.2; NM_032452.2.
DR AlphaFoldDB; Q96JJ6; -.
DR SMR; Q96JJ6; -.
DR BioGRID; 124103; 78.
DR IntAct; Q96JJ6; 60.
DR STRING; 9606.ENSP00000380307; -.
DR iPTMnet; Q96JJ6; -.
DR PhosphoSitePlus; Q96JJ6; -.
DR BioMuta; JPH4; -.
DR DMDM; 34582362; -.
DR MassIVE; Q96JJ6; -.
DR PaxDb; Q96JJ6; -.
DR PeptideAtlas; Q96JJ6; -.
DR PRIDE; Q96JJ6; -.
DR ProteomicsDB; 76971; -.
DR Antibodypedia; 22533; 115 antibodies from 23 providers.
DR DNASU; 84502; -.
DR Ensembl; ENST00000356300.9; ENSP00000348648.4; ENSG00000092051.18.
DR Ensembl; ENST00000397118.7; ENSP00000380307.3; ENSG00000092051.18.
DR GeneID; 84502; -.
DR KEGG; hsa:84502; -.
DR MANE-Select; ENST00000356300.9; ENSP00000348648.4; NM_001146028.2; NP_001139500.1.
DR UCSC; uc001wkq.3; human.
DR CTD; 84502; -.
DR DisGeNET; 84502; -.
DR GeneCards; JPH4; -.
DR HGNC; HGNC:20156; JPH4.
DR HPA; ENSG00000092051; Tissue enhanced (brain, pituitary gland).
DR MIM; 619863; gene.
DR neXtProt; NX_Q96JJ6; -.
DR OpenTargets; ENSG00000092051; -.
DR PharmGKB; PA134897649; -.
DR VEuPathDB; HostDB:ENSG00000092051; -.
DR eggNOG; KOG0231; Eukaryota.
DR GeneTree; ENSGT00940000162272; -.
DR HOGENOM; CLU_008078_4_0_1; -.
DR InParanoid; Q96JJ6; -.
DR OMA; PEAGCLM; -.
DR OrthoDB; 904294at2759; -.
DR PhylomeDB; Q96JJ6; -.
DR TreeFam; TF317210; -.
DR PathwayCommons; Q96JJ6; -.
DR SignaLink; Q96JJ6; -.
DR BioGRID-ORCS; 84502; 14 hits in 1069 CRISPR screens.
DR ChiTaRS; JPH4; human.
DR GenomeRNAi; 84502; -.
DR Pharos; Q96JJ6; Tbio.
DR PRO; PR:Q96JJ6; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q96JJ6; protein.
DR Bgee; ENSG00000092051; Expressed in superior frontal gyrus and 94 other tissues.
DR ExpressionAtlas; Q96JJ6; baseline and differential.
DR Genevisible; Q96JJ6; HS.
DR GO; GO:0043198; C:dendritic shaft; IEA:Ensembl.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0030314; C:junctional membrane complex; IBA:GO_Central.
DR GO; GO:0014701; C:junctional sarcoplasmic reticulum membrane; TAS:BHF-UCL.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005790; C:smooth endoplasmic reticulum; IEA:Ensembl.
DR GO; GO:0060402; P:calcium ion transport into cytosol; TAS:BHF-UCL.
DR GO; GO:0007612; P:learning; IEA:Ensembl.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR GO; GO:0001817; P:regulation of cytokine production; IEA:Ensembl.
DR GO; GO:0060314; P:regulation of ryanodine-sensitive calcium-release channel activity; TAS:BHF-UCL.
DR GO; GO:2001256; P:regulation of store-operated calcium entry; IEA:Ensembl.
DR GO; GO:0048167; P:regulation of synaptic plasticity; IBA:GO_Central.
DR InterPro; IPR017191; Junctophilin.
DR InterPro; IPR003409; MORN.
DR PANTHER; PTHR23085; PTHR23085; 1.
DR Pfam; PF02493; MORN; 8.
DR PIRSF; PIRSF037387; Junctophilin; 1.
DR SMART; SM00698; MORN; 6.
PE 1: Evidence at protein level;
KW Cell membrane; Endoplasmic reticulum; Membrane; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..628
FT /note="Junctophilin-4"
FT /id="PRO_0000159852"
FT TOPO_DOM 1..606
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 607..628
FT /note="Helical; Anchor for type IV membrane protein"
FT /evidence="ECO:0000255"
FT REPEAT 50..72
FT /note="MORN 1"
FT REPEAT 74..95
FT /note="MORN 2"
FT REPEAT 96..117
FT /note="MORN 3"
FT REPEAT 118..140
FT /note="MORN 4"
FT REPEAT 141..163
FT /note="MORN 5"
FT REPEAT 164..186
FT /note="MORN 6"
FT REPEAT 317..339
FT /note="MORN 7"
FT REPEAT 340..362
FT /note="MORN 8"
FT REGION 158..214
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 231..276
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 415..602
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 168..182
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 239..257
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 313
FT /note="R -> Q (in Ref. 3; AAH55429)"
FT /evidence="ECO:0000305"
FT CONFLICT 580
FT /note="P -> H (in Ref. 3; AAH55429)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 628 AA; 65861 MW; 60E7CF537FAF5D37 CRC64;
MSPGGKFDFD DGGCYVGGWE AGRAHGYGVC TGPGAQGEYS GCWAHGFESL GVFTGPGGHS
YQGHWQQGKR EGLGVERKSR WTYRGEWLGG LKGRSGVWES VSGLRYAGLW KDGFQDGYGT
ETYSDGGTYQ GQWQAGKRHG YGVRQSVPYH QAALLRSPRR TSLDSGHSDP PTPPPPLPLP
GDEGGSPASG SRGGFVLAGP GDADGASSRK RTPAAGGFFR RSLLLSGLRA GGRRSSLGSK
RGSLRSEVSS EVGSTGPPGS EASGPPAAAP PALIEGSATE VYAGEWRADR RSGFGVSQRS
NGLRYEGEWL GNRRHGYGRT TRPDGSREEG KYKRNRLVHG GRVRSLLPLA LRRGKVKEKV
DRAVEGARRA VSAARQRQEI AAARAADALL KAVAASSVAE KAVEAARMAK LIAQDLQPML
EAPGRRPRQD SEGSDTEPLD EDSPGVYENG LTPSEGSPEL PSSPASSRQP WRPPACRSPL
PPGGDQGPFS SPKAWPEEWG GAGAQAEELA GYEAEDEAGM QGPGPRDGSP LLGGCSDSSG
SLREEEGEDE EPLPPLRAPA GTEPEPIAML VLRGSSSRGP DAGCLTEELG EPAATERPAQ
PGAANPLVVG AVALLDLSLA FLFSQLLT
