QuickView for JP1;jsessionid=BEF5F7F3186A4CAB7C4D685C11260F8E;jsessionid=E6D23E9889C413C2C219BCDD40198F35 (gene)

Gene Symbol:

JPH1 Homo sapiens

Full name:

junctophilin 1

Synonyms:

CMT2K, JP-1, JP1, junctophilin-1, junctophilin type 1

Genomic Location:

Chr 8: 75309493-75396117

Description:

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the ...

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Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NKX25_01 ,  PR_Q2 ,  CTTGTAT_MIR381 ,  RTAAACA_FREAC2_01 ,  ATAAGCT_MIR21 ,  TGIF_01 ,  PR_02 ,  CEBPA_01 ,  GATA1_03 ,  TCANNTGAY_SREBP1_01 ,  ARNT_01 ,  E2F1_Q4_01 ,  PR_01 ,  GATA_Q6 ,  CACGTG_MYC_Q2 ,  NGFIC_01 ,  AACTGGA_MIR145 ,  ARP1_01 ,  ATGTACA_MIR493 ,  AP2ALPHA_01 ,  E2F1_Q4 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  E2F_Q6 ,  TITF1_Q3 ,  E2F1_Q6_01 ,  GR_Q6 ,  GAGCTGG_MIR337 ,  E2F_Q4 ,  AR_03 ,  TGCCTTA_MIR124A ,  ATTCTTT_MIR186 ,  OCT1_03 ,  TAATAAT_MIR126 ,  PAX6_01 ,  NF1_Q6_01 ,  TGTTTGY_HNF3_Q6 ,  ATACTGT_MIR144 ,  E2F_03 ,  GATA1_02 ,  E2F_Q4_01 ,  NMYC_01 ,  HAND1E47_01 ,  GR_01 ,  AP2REP_01 ,  AAAYRNCTG_UNKNOWN ,  TGCTTTG_MIR330 ,  TGACAGNY_MEIS1_01 ,  GRE_C ,  CAGCTG_AP4_Q5 ,  AACTTT_UNKNOWN ,  E2F_Q3 ,  TCF1P_Q6 ,  E2F_Q3_01 ,  HIF1_Q3

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Cytogenetic Map:

8q21.11

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