Homo sapiens (human): 114327 Help Entry 114327            CDS       T01001                                  Symbol EFHC1, EJM1, POC9, RIB72, dJ304B14.2, EJM Name (RefSeq) EF-hand domain containing 1   KO K23029   EF-hand domain-containing protein 1 Organism hsa  Homo sapiens (human) Disease H02216   Juvenile absence epilepsy H02217   Juvenile myoclonic epilepsy Brite KEGG Orthology (KO) [BR:hsa00001]  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    03037 Cilium and associated proteins [BR:hsa03037]     114327 (EFHC1)    04812 Cytoskeleton proteins [BR:hsa04812]     114327 (EFHC1)    04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]     114327 (EFHC1) Cilium and associated proteins [BR:hsa03037]  Motile cilia and associated proteins   Other motile cilia associated proteins    114327 (EFHC1) Cytoskeleton proteins [BR:hsa04812]  Eukaryotic cytoskeleton proteins   Microtubules    Tubulin-binding proteins     Microtubule-associated proteins (MAPs)      114327 (EFHC1) Domain-containing proteins not elsewhere classified [BR:hsa04990]  EF-hand domain-containing proteins   Other EF-hand domain-containing proteins    114327 (EFHC1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  DM10_dom EF-hand_7 EF-hand_6 EF-hand_1 Motif Other DBs NCBI-GeneID:  114327 NCBI-ProteinID:  NP_060570 OMIM:  608815 HGNC:  16406 Ensembl:  ENSG00000096093 UniProt:  Q5JVL4 B2CKC5 Structure PDBPDBj LinkDB All DBs Position 6:52420342..52497198 Genome browser AA seq 640 aa AA seqDB search MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN NT seq 1923 nt NT seq  +upstreamnt  +downstreamnt atggtgtccaatcccgtgcatggcttgccctttcttccgggcacgtcctttaaggactct acgaaaacagccttccacagaagtcagacgctgagctacaggaacggctatgcaattgtt cgacgtccaacagttgggataggcggagaccggctccagttcaaccagctgtcccaggct gagctggatgagttggccagtaaggcaccagtcttaacttatggccaacctaaacaagcc ccacctgcggattttattcctgcgcatgtggcctttgacaaaaaggtactgaaatttgat gcctatttccaagaagatgttcctatgtcaactgaggaacagtataggatccgtcaggtg aacatttactattatctagaagatgacagcatgtctgtcatagagcctgttgtagaaaat tctggaatccttcaaggcaagttaataaaacgccagcggctagccaagaatgaccggggt gaccattaccattggaaagacctaaatcgaggaataaacatcacaatttatggcaaaact ttccgcgttgttgactgtgaccaattcacacaggtatttttagaaagccaaggaattgag ttaaatccaccagagaagatggctcttgatccttacactgaactccgaaaacagcctctt cgtaagtatgtcaccccatcagactttgatcaactcaagcaatttctcacctttgacaaa caggtccttcgattctatgcaatctgggatgatacagacagcatgtatggtgaatgtcgg acctacatcattcattactatcttatggatgatacggtggaaattcgagaggtccacgaa cggaatgatgggagagatcctttcccactcctaatgaaccgccagcgtgtgcccaaagtt ttggtggaaaatgcaaagaacttccctcagtgtgtgctagaaatctctgaccaagaagtg ttggaatggtatactgctaaagacttcattgttgggaagtcactcactatccttgggaga actttcttcatttatgattgtgatccatttactcgacggtattacaaagagaagtttgga atcactgatttaccacgtattgatgtgagcaagcgggaaccacctccagtaaaacaggag ttgcctccttataacggttttggactagtggaagattctgctcagaattgttttgctctc attccaaaagctccaaaaaaagacgttattaaaatgctggtgaatgataacaaggtgctt cgttatttggctgtactggaatcccccatcccagaagacaaagaccgcagatttgtcttc tcttactttctagctaccgacatgatcagtatctttgagcctcctgttcgcaattctggt atcattgggggcaagtaccttggcaggactaaagttgttaaaccatactctacagtggac aaccctgtctactatggccccagtgacttcttcattggtgctgtgattgaagtgtttggt caccggttcatcatccttgatacagacgagtatgttttgaaatacatggagagcaacgct gcccagtattcaccagaagcactcgcgtcaattcagaaccatgtccgaaagcgagaagcg cctgctccagaagcagaaagcaagcaaactgaaaaggatccaggcgtgcaggaattggaa gcattaatagacacaattcagaagcaactgaaagatcactcatgcaaagacaacattcgt gaggcatttcaaatttatgacaaggaagcttcaggatatgtggacagagacatgttcttt aaaatctgtgaatcgcttaacgtcccagtggatgactccttggttaaggagttaatcagg atgtgctctcatggagaaggcaaaattaactactataactttgttcgtgctttctcaaac tga

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