KEGG   Homo sapiens (human): 114327
Entry
114327            CDS       T01001                                 

Gene name
EFHC1, EJM1, POC9, RIB72, dJ304B14.2, EJM
Definition
(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
   04812 Cytoskeleton proteins [BR:hsa04812]
    114327 (EFHC1)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    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)
SSDB
Motif
Pfam: DUF1126 EF-hand_7 EF-hand_1 EF-hand_6 DUF5580
Other DBs
NCBI-GeneID: 114327
NCBI-ProteinID: NP_060570
OMIM: 608815
HGNC: 16406
Ensembl: ENSG00000096093
Vega: OTTHUMG00000014848
Pharos: Q5JVL4(Tbio)
UniProt: Q5JVL4 B2CKC5
Position
6p12.2
AA seq 640 aa
MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA
ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV
NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT
FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK
QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV
LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG
ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL
RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD
NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA
PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF
KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
NT seq 1923 nt   +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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