Homo sapiens (human): 57338
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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)
BRITE hierarchy
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
MORN
Motif
Other DBs
NCBI-GeneID:
57338
NCBI-ProteinID:
NP_065706
OMIM:
605268
HGNC:
14203
Ensembl:
ENSG00000154118
UniProt:
Q8WXH2
B4DIC1
F8W9A3
LinkDB
All DBs
Position
16:87601835..87698156
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AA seq
748 aa
AA seq
DB search
MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNT
YQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYG
TETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPD
ASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKLRKSESKSSLASQRSK
QSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGF
GVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIR
EKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSF
PTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSR
GVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRL
LELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQ
NKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKS
STGSAPILVVMVILLNIGVAILFINFFI
NT seq
2247 nt
NT seq
+upstream
nt +downstream
nt
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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