KEGG   Homo sapiens (human): 57338
Entry
57338             CDS       T01001                                 
Symbol
JPH3, CAGL237, HDL2, JP-3, JP3, TNRC22
Name
(RefSeq) junctophilin 3
  KO
K19530  junctophilin
Organism
hsa  Homo sapiens (human)
Disease
H00832  Core neuroacanthocytosis syndromes
H01243  Huntington disease-like syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    57338 (JPH3)
SSDB
Motif
Pfam: MORN
Other DBs
NCBI-GeneID: 57338
NCBI-ProteinID: NP_065706
OMIM: 605268
HGNC: 14203
Ensembl: ENSG00000154118
UniProt: Q8WXH2 B4DIC1 F8W9A3
Position
16:87601835..87698156
AA seq 748 aa
MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNT
YQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYG
TETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPD
ASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKLRKSESKSSLASQRSK
QSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGF
GVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIR
EKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSF
PTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSR
GVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRL
LELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQ
NKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKS
STGSAPILVVMVILLNIGVAILFINFFI
NT seq 2247 nt   +upstreamnt  +downstreamnt
atgtccagtgggggcaggtttaattttgacgacggagggtcctactgtggaggctgggag
gacggcaaggcgcacggccatggcgtctgcaccggccccaagggccaaggcgaatacacc
ggctcgtggagccacggcttcgaggtgctgggcgtctacacctggcccagcggcaacacg
taccagggcacctgggcgcagggcaagcgccacggcatcggcctggagagcaaggggaag
tgggtgtacaagggcgagtggacgcacggattcaaggggcgctacggggtgcgggagtgc
gcgggcaacggggccaaatacgaagggacctggagcaacgggctgcaggacggctacggg
accgagacctactcggacggagggacctaccagggccagtgggtcggtggcatgcgccag
ggctacggcgtccggcagagcgtcccgtatggcatggccgcggtcatccgctcacccctg
aggacgtccatcaactccctgcgcagcgagcacaccaacggcacggcgctgcatcccgac
gcctctccggcggtggccggcagcccggccgtgtcccgcgggggcttcgtgctcgtggcc
cacagtgactccgagatcctcaagagcaagaagaaggggctgtttcggcgctcgctgctg
agtgggctgaagctgcgcaagtcggagtccaagagcagcctggccagccaacgcagcaag
cagagctcctttcgcagcgaggcgggcatgagcaccgtcagctccacggccagcgacatc
cactccaccatcagcctgggcgaggctgaggccgagctggcggtcatcgaggacgacatc
gacgccaccaccaccgagacctacgtgggcgagtggaagaacgacaaacgctccggcttc
ggcgtgagccagcgctcggacgggctcaagtacgagggcgagtgggccagcaaccggcgc
catggctacggctgcatgaccttcccggacggcaccaaggaggagggcaagtacaagcag
aacatcctcgtcggcggcaagcgcaagaacctcatccccctgcgggccagcaagatccgc
gagaaggtggaccgcgccgttgaggccgctgagcgggccgccaccatcgccaagcagaag
gctgagatcgcggcttccaggacctcccactctcgggcaaaggccgaggcagccctcaca
gcagctcagaaagcccaggaggaggcgcggatcgccaggatcactgccaaagagttctcc
ccttccttccagcaccgggaaaacgggctggagtaccagaggccgaagcgtcagacctcc
tgtgacgacatcgaggtgctgtccaccgggacacccctgcagcaggagagccccgagctg
taccgcaagggcaccactccctccgacctgacccccgacgacagccccctgcagagcttc
cccaccagccccgcggccaccccgccgcccgcgcccgccgccaggaacaaggtcgcccac
ttctcgaggcaggtgtcggtggacgaggagcggggcggggacatccagatgctcctggag
ggccgggccggggactgcgcccgcagcagctggggcgaggagcaggccgggggctccagg
ggtgtccgcagcggtgccctgcgcggcggcctgctcgtggatgacttccgcacccgaggt
tcgggccgcaagcagcccgggaaccccaagccgcgggagcggcggacggagtcacccccc
gtgttcacgtggacttcccaccaccgggccagcaaccacagccccggaggctccaggctg
ctggagctgcaggaggagaagctgagcaactaccggatggagatgaaacccttgctgagg
atggagacgcatccccagaaaagacgctacagcaagggcggcgcctgccggggcttgggg
gacgaccaccgccccgaggaccggggcttcggggtgcagagactgcggtccaaggcccag
aacaaggagaacttcaggccggcctcctccgcggagcccgccgtgcagaaactggcgagc
ctgcggctgggcggggccgagccccggttgctgcgttgggacttgaccttctccccgccc
cagaaatccttgcctgtcgctctagagtccgacgaggagaatggggatgagctcaagtcc
agtacgggctcagcgcctatcctggtggtcatggtgatcttgctcaacatcggagtcgcc
attctgtttattaactttttcatctga

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