EFHC1 - EF-hand domain containing 1 Gene
Also Known as EJM1; POC9; RIB72; dJ304B14.2
Species: Homo sapiens
About EFHC1
This gene has 39 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 8.2), thyroid (RPKM 5.9) and 24 other tissues.
Summary
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
EFHC1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001172420.2 | NP_001165891.1 | EF-hand domain-containing protein 1 isoform 2 |
| NM_018100.4 | NP_060570.2 | EF-hand domain-containing protein 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables alpha-tubulin binding |
IDA
IDA: Inferred from direct assay
|
19734894 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cerebral cortex cell migration |
IMP
IMP: Inferred from mutant phenotype
|
22926142 | GOA |
| involved in mitotic cytokinesis |
IMP
IMP: Inferred from mutant phenotype
|
28370826 | GOA |
| involved in mitotic spindle organization |
IMP
IMP: Inferred from mutant phenotype
|
19734894 | GOA |
| involved in regulation of cell division |
IMP
IMP: Inferred from mutant phenotype
|
19734894 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axonemal microtubule |
IDA
IDA: Inferred from direct assay
|
36191189 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
22926142 | GOA |
| located in mitotic spindle |
IDA
IDA: Inferred from direct assay
|
19734894 | GOA |
| located in spindle pole |
IDA
IDA: Inferred from direct assay
|
28370826 | GOA |
EFHC1 Protein Structure
DUF1126: DUF1126 PH-like domain (122 - 153)
DUF1126: DUF1126 PH-like domain (263 - 296)
DUF1126: DUF1126 PH-like domain (439 - 471)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 640 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
EF-hand domain-containing protein 1 |
|
EFHC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
EFHC1 | Q5JVL4 | TEKT1 | Homo sapiens | Q969V4 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEKT1 | Homo sapiens | Q969V4 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEKT1 | Homo sapiens | Q969V4 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | RIMBP3 | Homo sapiens | Q9UFD9 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | RIMBP3 | Homo sapiens | Q9UFD9 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | RIMBP3 | Homo sapiens | Q9UFD9 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | SELENOV | Homo sapiens | P59797 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SELENOV | Homo sapiens | P59797 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SLAIN1 | Homo sapiens | Q8ND83 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SLAIN1 | Homo sapiens | Q8ND83 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SLAIN1 | Homo sapiens | Q8ND83 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NRIP3 | Homo sapiens | Q9NQ35 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NRIP3 | Homo sapiens | Q9NQ35 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NRIP3 | Homo sapiens | Q9NQ35 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SNAI1 | Homo sapiens | O95863 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SNAI1 | Homo sapiens | O95863 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | REL | Homo sapiens | Q04864-2 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | REL | Homo sapiens | Q04864-2 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | REL | Homo sapiens | Q04864-2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | REL | Homo sapiens | Q04864-2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | REL | Homo sapiens | Q04864-2 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEX11 | Homo sapiens | Q8IYF3-3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEX11 | Homo sapiens | Q8IYF3-3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEX11 | Homo sapiens | Q8IYF3-3 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEX11 | Homo sapiens | Q8IYF3-3 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEX11 | Homo sapiens | Q8IYF3-3 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TEX11 | Homo sapiens | Q8IYF3-3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TLE5 | Homo sapiens | Q08117-2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TLE5 | Homo sapiens | Q08117-2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CFAP161 | Homo sapiens | Q6P656 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CFAP161 | Homo sapiens | Q6P656 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CFAP161 | Homo sapiens | Q6P656 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TP53BP2 | Homo sapiens | Q05BL1 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TP53BP2 | Homo sapiens | Q05BL1 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | LMO2 | Homo sapiens | P25791-3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | LMO2 | Homo sapiens | P25791-3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | FMR1 | Homo sapiens | Q8IXW7 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | FMR1 | Homo sapiens | Q8IXW7 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | FMR1 | Homo sapiens | Q8IXW7 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CIMIP1 | Homo sapiens | Q9H1P6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CIMIP1 | Homo sapiens | Q9H1P6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CIMIP1 | Homo sapiens | Q9H1P6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MBD3L1 | Homo sapiens | Q8WWY6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MBD3L1 | Homo sapiens | Q8WWY6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MBD3L1 | Homo sapiens | Q8WWY6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCNJ5-AS1 | Homo sapiens | Q8TAV5 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCNJ5-AS1 | Homo sapiens | Q8TAV5 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCNJ5-AS1 | Homo sapiens | Q8TAV5 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SAPCD1 | Homo sapiens | Q5SSQ6-2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SAPCD1 | Homo sapiens | Q5SSQ6-2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SAPCD1 | Homo sapiens | Q5SSQ6-2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TCF4 | Homo sapiens | P15884-3 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TCF4 | Homo sapiens | P15884-3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TCF4 | Homo sapiens | P15884-3 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TCF4 | Homo sapiens | P15884-3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TCF4 | Homo sapiens | P15884-3 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | WASF1 | Homo sapiens | Q92558 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | WASF1 | Homo sapiens | Q92558 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | WASF1 | Homo sapiens | Q92558 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PRR5L | Homo sapiens | Q6MZQ0 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PRR5L | Homo sapiens | Q6MZQ0 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PRR5L | Homo sapiens | Q6MZQ0 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | EFHC2 | Homo sapiens | Q5JST6 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | EFHC2 | Homo sapiens | Q5JST6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | EFHC2 | Homo sapiens | Q5JST6 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | EFHC2 | Homo sapiens | Q5JST6 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | EFHC2 | Homo sapiens | Q5JST6 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | LRRC61 | Homo sapiens | Q9BV99 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | LRRC61 | Homo sapiens | Q9BV99 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | LRRC61 | Homo sapiens | Q9BV99 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | UBAP2 | Homo sapiens | Q5T6F2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | UBAP2 | Homo sapiens | Q5T6F2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | UBAP2 | Homo sapiens | Q5T6F2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SYNGAP1 | Homo sapiens | Q96PV0 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SYNGAP1 | Homo sapiens | Q96PV0 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SYNGAP1 | Homo sapiens | Q96PV0 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MIIP | Homo sapiens | Q5JXC2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MIIP | Homo sapiens | Q5JXC2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MIIP | Homo sapiens | Q5JXC2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MTFR1L | Homo sapiens | Q9H019 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MTFR1L | Homo sapiens | Q9H019 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MTFR1L | Homo sapiens | Q9H019 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MRNIP | Homo sapiens | Q6NTE8 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MRNIP | Homo sapiens | Q6NTE8 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MRNIP | Homo sapiens | Q6NTE8 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KRT75 | Homo sapiens | O95678 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KRT75 | Homo sapiens | O95678 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KRT18 | Homo sapiens | P05783 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KRT18 | Homo sapiens | P05783 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | EIF4ENIF1 | Homo sapiens | Q9NRA8 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | EIF4ENIF1 | Homo sapiens | Q9NRA8 | 25416956 | |
|
Intra
|
EFHC1 | Q5JVL4 | EIF4ENIF1 | Homo sapiens | Q9NRA8 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | EIF4ENIF1 | Homo sapiens | Q9NRA8 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | EIF4ENIF1 | Homo sapiens | Q9NRA8 | 25416956 | |
|
Intra
|
EFHC1 | Q5JVL4 | PBX1 | Homo sapiens | P40424 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PBX1 | Homo sapiens | P40424 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
EFHC1 | Q5JVL4 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
EFHC1 | Q5JVL4 | WHRN | Homo sapiens | Q9P202 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PBX2 | Homo sapiens | P40425 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PBX2 | Homo sapiens | P40425 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | BRAP | Homo sapiens | Q7Z569 | 33961781 | |
|
Intra
|
EFHC1 | Q5JVL4 | BRAP | Homo sapiens | Q7Z569 | 28514442 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRAF2 | Homo sapiens | Q12933 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRAF2 | Homo sapiens | Q12933 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRAF2 | Homo sapiens | Q12933 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRAF2 | Homo sapiens | Q12933 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRAF2 | Homo sapiens | Q12933 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | VBP1 | Homo sapiens | P61758 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | VBP1 | Homo sapiens | P61758 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NQO2 | Homo sapiens | P16083 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NQO2 | Homo sapiens | P16083 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | GADD45B | Homo sapiens | O75293 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | GADD45B | Homo sapiens | O75293 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TCF4 | Homo sapiens | P15884 | 25416956 | |
|
Intra
|
EFHC1 | Q5JVL4 | TCF4 | Homo sapiens | P15884 | 25416956 | |
|
Intra
|
EFHC1 | Q5JVL4 | OIP5 | Homo sapiens | O43482 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | OIP5 | Homo sapiens | O43482 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | GOLGA2 | Homo sapiens | Q08379 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | GOLGA2 | Homo sapiens | Q08379 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | GOLGA2 | Homo sapiens | Q08379 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | ITGB3BP | Homo sapiens | Q13352 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | ITGB3BP | Homo sapiens | Q13352 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PMF1 | Homo sapiens | Q6P1K2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PMF1 | Homo sapiens | Q6P1K2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PMF1 | Homo sapiens | Q6P1K2 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | YJU2B | Homo sapiens | P13994 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | YJU2B | Homo sapiens | P13994 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KRT15 | Homo sapiens | P19012 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | KRT15 | Homo sapiens | P19012 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | KRT15 | Homo sapiens | P19012 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | CALCOCO2 | Homo sapiens | Q13137 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CALCOCO2 | Homo sapiens | Q13137 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | ZBED1 | Homo sapiens | O96006 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | ZBED1 | Homo sapiens | O96006 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | ZBED1 | Homo sapiens | O96006 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | ZBED1 | Homo sapiens | O96006 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | ZBED1 | Homo sapiens | O96006 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NUP54 | Homo sapiens | Q7Z3B4 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NUP54 | Homo sapiens | Q7Z3B4 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | NUP54 | Homo sapiens | Q7Z3B4 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SORBS3 | Homo sapiens | O60504 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SORBS3 | Homo sapiens | O60504 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCTD4 | Homo sapiens | Q8WVF5 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCTD4 | Homo sapiens | Q8WVF5 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCTD4 | Homo sapiens | Q8WVF5 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCTD4 | Homo sapiens | Q8WVF5 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCTD4 | Homo sapiens | Q8WVF5 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | KCTD4 | Homo sapiens | Q8WVF5 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRIP6 | Homo sapiens | Q15654 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRIP6 | Homo sapiens | Q15654 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TRIP6 | Homo sapiens | Q15654 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | CHCHD3 | Homo sapiens | Q9NX63 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CHCHD3 | Homo sapiens | Q9NX63 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | CHCHD3 | Homo sapiens | Q9NX63 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SPATA2 | Homo sapiens | Q9UM82 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SPATA2 | Homo sapiens | Q9UM82 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | SPATA2 | Homo sapiens | Q9UM82 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 31515488 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 25416956 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | IKZF3 | Homo sapiens | Q9UKT9 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PAX6 | Homo sapiens | P26367 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | PAX6 | Homo sapiens | P26367 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | IMP3 | Homo sapiens | Q9NV31 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | IMP3 | Homo sapiens | Q9NV31 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | IMP3 | Homo sapiens | Q9NV31 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | HOMER3 | Homo sapiens | Q9NSC5 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | HOMER3 | Homo sapiens | Q9NSC5 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | HOMER3 | Homo sapiens | Q9NSC5 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | SH3GLB2 | Homo sapiens | Q9NR46 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | SH3GLB2 | Homo sapiens | Q9NR46 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | SH3GLB2 | Homo sapiens | Q9NR46 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | GAS2L2 | Homo sapiens | Q8NHY3 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MAMDC2 | Homo sapiens | Q7Z304 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MAMDC2 | Homo sapiens | Q7Z304 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | MAMDC2 | Homo sapiens | Q7Z304 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | METTL27 | Homo sapiens | Q8N6F8 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | METTL27 | Homo sapiens | Q8N6F8 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | METTL27 | Homo sapiens | Q8N6F8 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | IHO1 | Homo sapiens | Q8IYA8 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | IHO1 | Homo sapiens | Q8IYA8 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | IHO1 | Homo sapiens | Q8IYA8 | 25910212 | |
|
Intra
|
EFHC1 | Q5JVL4 | TTC23L | Homo sapiens | Q6PF05 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TTC23L | Homo sapiens | Q6PF05 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | TTC23L | Homo sapiens | Q6PF05 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | RCN1 | Homo sapiens | Q15293 | 32296183 | |
|
Intra
|
EFHC1 | Q5JVL4 | RCN1 | Homo sapiens | Q15293 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Epilepsy, Myoclonic Juvenile |
|
|
| Epilepsy, Juvenile Absence 1 |
|
|
| Juvenile Absence Epilepsy |
|
|
| Adolescence-Adult Electroclinical Syndrome |
|
|
| Epilepsy |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Epilepsy With Generalized Tonic-Clonic Seizures |
|
|
| Unverricht-Lundborg Syndrome |
|
|
| Childhood Electroclinical Syndrome |
|
|
| Early Onset Absence Epilepsy |
|
|
| Epilepsy, Familial Temporal Lobe, 1 |
|
|
| Photosensitive Epilepsy |
|
|
| Benign Neonatal Seizures |
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
|
| Endocrine-Cerebroosteodysplasia |
|
|
| Childhood Absence Epilepsy |
|
|
| Pitt-Hopkins-Like Syndrome 1 |
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Familial Febrile Seizures |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Dravet Syndrome |
|
|
| Bardet-Biedl Syndrome |
|
|
| Developmental And Epileptic Encephalopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | EFHC1 | RGD | RGD:1587365 |
| Felis catus | EFHC1 | VGNC | VGNC:102417 |
| Bos taurus | EFHC1 | VGNC | VGNC:28351 |
| Canis familiaris | EFHC1 | VGNC | VGNC:40223 |
| Macaca mulatta | EFHC1 | VGNC | VGNC:72052 |
| Mus musculus | EFHC1 | MGD | MGI:1919127 |
| Others | EFHC1 | NCBI |