ENSG00000096093


Homo sapiens

Features
Gene ID: ENSG00000096093
  
Biological name :EFHC1
  
Synonyms : EF-hand domain containing 1 / EFHC1 / Q5JVL4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p12.2
Gene start: 52362123
Gene end: 52529886
  
Corresponding Affymetrix probe sets: 219833_s_at (Human Genome U133 Plus 2.0 Array)   225656_at (Human Genome U133 Plus 2.0 Array)   231026_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000490256
Ensembl peptide - ENSP00000360107
Ensembl peptide - ENSP00000434498
Ensembl peptide - ENSP00000444521
Ensembl peptide - ENSP00000489623
Ensembl peptide - ENSP00000489654
Ensembl peptide - ENSP00000489680
Ensembl peptide - ENSP00000489700
Ensembl peptide - ENSP00000489708
Ensembl peptide - ENSP00000489765
Ensembl peptide - ENSP00000489852
Ensembl peptide - ENSP00000489854
Ensembl peptide - ENSP00000489866
Ensembl peptide - ENSP00000489921
Ensembl peptide - ENSP00000489966
Ensembl peptide - ENSP00000489998
Ensembl peptide - ENSP00000490074
Ensembl peptide - ENSP00000490193
Ensembl peptide - ENSP00000490348
Ensembl peptide - ENSP00000490441
Ensembl peptide - ENSP00000490567
Ensembl peptide - ENSP00000490602
Ensembl peptide - ENSP00000490622
Ensembl peptide - ENSP00000490711
Ensembl peptide - ENSP00000490859
NCBI entrez gene - 114327     See in Manteia.
OMIM - 608815
RefSeq - NM_018100
RefSeq - NM_001172420
RefSeq Peptide - NP_001165891
RefSeq Peptide - NP_060570
swissprot - A0A1B0GTM7
swissprot - A0A1B0GTV4
swissprot - A0A1B0GTV6
swissprot - A0A1B0GTW5
swissprot - A0A1B0GU13
swissprot - A0A1B0GUE4
swissprot - A0A1B0GUP6
swissprot - A0A1B0GUV2
swissprot - A0A1B0GV27
swissprot - A0A1B0GVB0
swissprot - A0A1B0GVP6
swissprot - A0A1B0GVR3
swissprot - A0A1B0GVZ5
swissprot - A0A1B0GWB3
swissprot - A0A1C7CYY1
swissprot - B2CKC5
swissprot - Q5JVL4
swissprot - A0A1B0GTB1
swissprot - A0A1B0GTD7
swissprot - A0A1B0GTF7
swissprot - A0A1B0GTH2
swissprot - A0A1B0GTH7
Ensembl - ENSG00000096093
  
Related genetic diseases (OMIM): 254770 - {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770
  607631 - {Epilepsy, juvenile absence, susceptibility to, 1}, 607631
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 efhc1ENSDARG00000009743Danio rerio
 EFHC1ENSGALG00000016674Gallus gallus
 Efhc1ENSMUSG00000041809Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EFHC2 / Q5JST6 / EF-hand domain containing 2ENSG0000018369035


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR006602  Uncharacterised domain DM10
 IPR010554  Domain of unknown function DUF1126
 IPR011992  EF-hand domain pair


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis IMP
 biological_processGO:0007052 mitotic spindle organization IMP
 biological_processGO:0021795 cerebral cortex cell migration IMP
 biological_processGO:0051302 regulation of cell division IMP
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005930 axoneme ISS
 cellular_componentGO:0043025 neuronal cell body ISS
 cellular_componentGO:0072686 mitotic spindle IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding ISS
 molecular_functionGO:0043014 alpha-tubulin binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000153 Abnormality of the mouth "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson]
Show

 HP:0000496 Abnormality of eye movement "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson]
Show

 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0002069 Generalized tonic-clonic seizures "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators]
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 HP:0002121 Absence seizures "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson]
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 HP:0002373 Febrile seizures "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators]
Show

 HP:0002392 EEG shows 3-4-Hz spike and multispike slow wave complexes 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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