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Gene id 114327
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol EFHC1   Gene   UCSC   Ensembl
Aliases EJM1, POC9, RIB72, dJ304B14.2
Gene name EF-hand domain containing 1
Alternate names EF-hand domain-containing protein 1, EF-hand domain (C-terminal) containing 1, myoclonin-1,
Gene location 6p12.2 (52420341: 52497197)     Exons: 12     NC_000006.12
Gene summary(Entrez) 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.
OMIM 608815

Protein Summary
Protein general information Q5JVL4  

Name: EF hand domain containing protein 1 (Myoclonin 1)

Length: 640  Mass: 73990

Tissue specificity: Widely expressed. Not detected in lymphocytes. {ECO

Sequence MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYG
QPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIK
RQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVT
PSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV
LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPP
PVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMIS
IFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSP
EALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF
KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
Structural information
Protein Domains
 (93..19-)
(/note="DM10-1)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00665-)
(239..35-)
(/note="DM10-2)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00665-)
(416..52-)
(/note="DM10-3)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00665-)
(-)
Interpro:  IPR010554  IPR011992  IPR002048  IPR040193  IPR006602  
Prosite:   PS51336 PS50222
CDD:   cd00051
MINT:  
STRING:   ENSP00000360107
Other Databases GeneCards:  EFHC1  Malacards:  EFHC1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005930 axoneme
 IBA cellular component
GO:0007052 mitotic spindle organizat
ion
 IBA biological process
GO:0060285 cilium-dependent cell mot
ility
 IBA biological process
GO:0000281 mitotic cytokinesis
 IBA biological process
GO:0043014 alpha-tubulin binding
 IBA molecular function
GO:0072686 mitotic spindle
 IBA cellular component
GO:0005813 centrosome
 IDA cellular component
GO:0072686 mitotic spindle
 IDA cellular component
GO:0000922 spindle pole
 IDA cellular component
GO:0072686 mitotic spindle
 IDA cellular component
GO:0043014 alpha-tubulin binding
 IDA molecular function
GO:0021795 cerebral cortex cell migr
ation
 IMP biological process
GO:0007052 mitotic spindle organizat
ion
 IMP biological process
GO:0007052 mitotic spindle organizat
ion
 IMP biological process
GO:0000281 mitotic cytokinesis
 IMP biological process
GO:0051302 regulation of cell divisi
on
 IMP biological process
GO:0005509 calcium ion binding
 IEA molecular function
GO:0005737 cytoplasm
 IEA cellular component
GO:0005856 cytoskeleton
 IEA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0000922 spindle pole
 IEA cellular component
GO:0005815 microtubule organizing ce
nter
 IEA cellular component
GO:0005819 spindle
 IEA cellular component
GO:0043025 neuronal cell body
 ISS cellular component
GO:0008022 protein C-terminus bindin
g
 ISS molecular function
GO:0005930 axoneme
 ISS cellular component

Diseases

Expand All | Collapse All
Associated diseases References
Juvenile myoclonic epilepsy KEGG:H02217
Juvenile absence epilepsy KEGG:H02216
Juvenile myoclonic epilepsy KEGG:H02217
Juvenile absence epilepsy KEGG:H02216
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
31037746 Spermatoge
nic defect
s
28 men with az
oospermia
 Male infertility Microarray
 Show abstract