KEGG   Homo sapiens (human): 57338Help
Entry
57338             CDS       T01001                                 

Gene name
JPH3, CAGL237, HDL2, JP-3, JP3, TNRC22
Definition
(RefSeq) junctophilin 3
  KO
K19530  
junctophilin
Organism
hsa  Homo sapiens (human)
Disease
H00832  
Core neuroacanthocytosis syndromes
H01243  
Huntington's disease-like syndrome
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
16q24.3
AA seq 748 aa AA seqDB search
MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNT
YQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYG
TETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPD
ASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKLRKSESKSSLASQRSK
QSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGF
GVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIR
EKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSF
PTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSR
GVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRL
LELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQ
NKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKS
STGSAPILVVMVILLNIGVAILFINFFI
NT seq 2247 nt NT seq  +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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