KEGG   Homo sapiens (human): 56704Help
Entry
56704             CDS       T01001                                 

Gene name
JPH1, CMT2K, JP-1, JP1
Definition
(RefSeq) junctophilin 1
  KO
K19530  junctophilin
Organism
hsa  Homo sapiens (human)
SSDB OrthologParalogGFIT
Motif
Pfam: MORN
Motif
Other DBs
NCBI-GeneID: 56704
NCBI-ProteinID: NP_001304759
OMIM: 605266
HGNC: 14201
Ensembl: ENSG00000104369
Vega: OTTHUMG00000164524
Pharos: Q9HDC5(Tbio)
UniProt: Q9HDC5 Q7Z682
Position
8q21.11
AA seq 661 aa AA seqDB search
MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSHGFEVVGGYTWPSGNTY
QGYWAQGKRHGLGVETKGKWMYRGEWSHGFKGRYGVRQSLCTPARYEGTWSNGLQDGYGV
ETYGDGGTYQGQWAGGMRHGYGVRQSVPYGMATVIRSPLRTSLASLRSEQSNGSVLHDAA
AAADSPAGTRGGFVLNFHADAELAGKKKGGLFRRGSLLGSMKLRKSESKSSISSKRSSVR
SDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDATTTETYMGEWKNDKRNGFGVSERSN
GMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNNILVRGIRKQLIPIRHTKTREKVDRAI
EGAQRAAAMARTKVEIANSRTAHARAKADAADQAALAARQECDIARAVARELSPDFYQPG
PDYVKQRFQEGVDAKENPEEKVPEKPPTPKESPHFYRKGTTPPRSPEASPKHSHSPASSP
KPLKKQNPSSGARLNQDKRSVADEQVTAIVNKPLMSKAPTKEAGAVVPQSKYSGRHHIPN
PSNGELHSQYHGYYVKLNAPQHPPVDVEDGDGSSQSSSALVHKPSANKWSPSKSVTKPVA
KESKAEPKAKKSELAIPKNPASNDSCPALEKEANSGPNSIMIVLVMLLNIGLAILFVHFL
T
NT seq 1986 nt NT seq  +upstreamnt  +downstreamnt
atgacgggcggaaggttcgacttcgacgatggcggcacctactgcggcggctgggaggag
ggcaaggcgcacgggcatggcatctgcacggggcccaagggccagggcgagtactcgggc
tcctggtcgcacggcttcgaggtggtcggaggctacacctggcccagcggcaacacctac
cagggctactgggcgcagggcaagcggcacgggctgggggtggagacgaagggcaagtgg
atgtaccggggggagtggtcacatggtttcaaggggcgctacggggtccggcagagcctg
tgcacccccgctcgctacgagggtacctggagtaacgggctgcaagacgggtacggcgtg
gagacctacggggacggaggtacctaccagggccagtgggccggaggcatgcggcatggc
tacggcgtgcgccagagcgtgccctacggcatggccacggtgatccgctcaccgctgcgt
acctcgctggcctcgctgcgcagcgagcagagcaatggcagcgtgctccacgacgccgca
gccgccgccgacagcccggccggcacccgcggcggtttcgtgctcaacttccacgcagac
gctgagctagcgggcaagaagaagggcggcctcttccggaggggctcccttcttggaagc
atgaaacttcgcaagtccgaatccaagtcttccatctcgagcaagcgcagctctgtccgc
agcgacgcggccatgagcagaattagttccagcgatgccaactccacgatcagctttggc
gatgtagattgtgatttttgcccggtggaagaccacgtggacgccaccaccacggaaacc
tacatgggcgagtggaagaacgacaagcgcaacggcttcggcgttagcgagcgctccaat
ggcatgaagtatgaaggggagtgggcaaataacaagaggcatggatatggctgtaccgtg
tttcctgacggctccaaagaagagggaaaatacaaaaataatattctggtccgtgggata
aggaagcagcttataccaataagacatacaaaaactagggagaaggtggacagagcaatt
gaaggcgcccaaagggcagctgccatggccagaaccaaagtggaaatagcaaattcaagg
actgcacatgccagagcgaaggccgatgccgccgaccaggccgcgctggccgctcgccag
gagtgcgacatcgcgagagctgtggccagggagctgtcacctgatttctaccaaccaggc
cctgattacgtcaaacagagatttcaggaaggtgtagatgctaaagaaaatccagaagaa
aaggtaccagaaaagccacctacaccaaaggagtctcctcatttttatcgcaaaggcacg
acacccccaagatctcctgaggcaagtcccaaacacagccactctcctgcttcctcccca
aagcccctgaagaagcaaaaccccagctcaggggcgagactcaaccaagacaaaaggagt
gtggctgatgagcaggtgacggccattgtcaataagcccttgatgtcaaaggctcccacg
aaggaggcaggagcggttgtgccccagtccaagtactctggccgccaccacatccccaac
cccagtaacggggagctgcattctcagtatcacggctactacgtgaagctgaacgccccc
cagcaccctccagtagacgtggaggacggcgatggatccagccagtcttcctcagcactg
gtgcacaagccatccgctaacaagtggagtccctccaaatctgtgacaaaaccagttgcc
aaagaaagcaaagctgagccaaaagctaagaagtctgaacttgctataccaaagaatcca
gcaagcaacgattcatgccctgctttggaaaaagaagccaattcaggccctaattcaatc
atgattgtccttgtcatgctgttgaatatcgggttggccattctttttgttcactttcta
acttga

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