KEGG   Homo sapiens (human): 114327
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)
SSDB
Motif
Pfam: DM10_dom EF-hand_7 EF-hand_6 EF-hand_1
Other DBs
NCBI-GeneID: 114327
NCBI-ProteinID: NP_060570
OMIM: 608815
HGNC: 16406
Ensembl: ENSG00000096093
UniProt: Q5JVL4 B2CKC5
Structure
Position
6:52420342..52497198
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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Ontology (4)   
   KEGG BRITE (4)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (31)   
   RefSeq(nuc) (3)   
   GenBank (14)   
   EMBL (14)   
3D Structure (2)   
   PDB (2)   
Protein domain (4)   
   Pfam (4)   
All databases (66)   

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