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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] See more...
Aliases for EFHC1 Gene
Aliases for EFHC1 Gene
External Ids for EFHC1 Gene
- HGNC: 16406
- Entrez Gene: 114327
- Ensembl: ENSG00000096093
- OMIM: 608815
- UniProtKB: Q5JVL4
Previous HGNC Symbols for EFHC1 Gene
- EJM1
- EJM
Previous GeneCards Identifiers for EFHC1 Gene
- GC00U991099
- GC06U900420
- GC06P052331
- GC06P052393
- GC06P052116
- GC06P052284
- GC06P052420
Summaries for EFHC1 Gene
-
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]
GeneCards Summary for EFHC1 Gene
EFHC1 (EF-Hand Domain Containing 1) is a Protein Coding gene. Diseases associated with EFHC1 include Epilepsy, Myoclonic Juvenile and Epilepsy, Juvenile Absence 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein C-terminus binding. An important paralog of this gene is EFHC2.
UniProtKB/Swiss-Prot Summary for EFHC1 Gene
-
Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).
Additional gene information for EFHC1 Gene
- HGNC(16406)
- Entrez Gene(114327)
- Ensembl(ENSG00000096093)
- OMIM(608815)
- UniProtKB(Q5JVL4)
- Open Targets Platform(ENSG00000096093)
- Monarch Initiative
- Search for EFHC1 at DataMed
- Search for EFHC1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFHC1 Gene
Genomics for EFHC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EFHC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EFHC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFHC1
- Top Transcription factor binding sites by QIAGEN in the EFHC1 gene promoter:
-
- AML1a
- GR
- GR-alpha
- Nkx2-2
- POU2F1
- RFX1
- STAT3
- USF-1
- USF1
- ZIC2
Genomic Locations for EFHC1 Gene
Genomic Locations for EFHC1 Gene
- chr6:52,362,123-52,529,886
- (GRCh38/hg38)
- Size:
- 167,764 bases
- Orientation:
- Plus strand
- chr6:52,284,994-52,387,892
- (GRCh37/hg19)
- Size:
- 102,899 bases
- Orientation:
- Plus strand
Genomic View for EFHC1 Gene
Genes around EFHC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p12.2 by HGNC
- 6p12.2 by Entrez Gene
- 6p12.2 by Ensembl
EFHC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EFHC1 Gene
Proteins for EFHC1 Gene
-
Protein details for EFHC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5JVL4-EFHC1_HUMAN
- Recommended name:
- EF-hand domain-containing protein 1
- Protein Accession:
- Q5JVL4
- B4DMU3
- F5GZD8
- Q5XKM4
- Q6E1U7
- Q6E1U8
- Q8WUL2
- Q9NVW6
Protein attributes for EFHC1 Gene
- Size:
- 640 amino acids
- Molecular mass:
- 73990 Da
- Quaternary structure:
-
- Interacts with the C-terminus of CACNA1E (PubMed:15258581). Interacts with alpha-tubulin (PubMed:19734894).
- Miscellaneous:
-
- [Isoform 2]: May be due to intron retention.
Protein Expression for EFHC1 Gene
Post-translational modifications for EFHC1 Gene
Other Protein References for EFHC1 Gene
- ENSEMBL proteins:
-
- ENSP00000489921
- ENSP00000489765
- ENSP00000489708
- ENSP00000489998
- ENSP00000490567
- ENSP00000489866
- ENSP00000489854
- ENSP00000490441
- ENSP00000434498
- ENSP00000489700
- ENSP00000490859
- ENSP00000360107
- ENSP00000489680
- ENSP00000489623
- ENSP00000489852
- ENSP00000490256
- ENSP00000490074
- ENSP00000490622
- ENSP00000489966
- ENSP00000490602
- ENSP00000490711
- ENSP00000489654
- ENSP00000490193
- ENSP00000490348
- ENSP00000444521
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-EFHC1 monoclonal antibody
- Creative Biolabs Mouse Anti-EFHC1 Recombinant Antibody (CBFYE-0035)
- Novus Biologicals Antibodies for EFHC1
- Invitrogen Antibodies for EFHC1 (AFLGC-EFHC1)
-
Boster Bio Antibodies for EFHC1
Protein Products
-
OriGene Purified Proteins for EFHC1
- Search Origene for MassSpec and Protein Over-expression Lysates for EFHC1
- Origene Custom Protein Services for EFHC1
- antibodies-online: Show 5 available EFHC1 Proteins ranked by validation data
- Compare Top EFHC1 Proteins
-
Quality Products:
-
Abcam proteins for EFHC1
Assay Products
- Creative Diagnostics Human EFHC1 ELISA Matched Antibody Pair
No data available for DME Specific Peptides for EFHC1 Gene
Domains & Families for EFHC1 Gene
Gene Families for EFHC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for EFHC1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EFHC1 Gene
- GenScript: Design optimal peptide antigens:
-
- EF-hand domain containing 1 (B2CKC5_HUMAN)
- Myoclonin-1 (EFHC1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EFHC1 Gene
Function for EFHC1 Gene
Molecular function for EFHC1 Gene
- UniProtKB/Swiss-Prot Function:
- Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).
Phenotypes From GWAS Catalog for EFHC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0008022 | protein C-terminus binding | ISS | -- |
| GO:0043014 | alpha-tubulin binding | IBA,IDA | 19734894 |
Phenotypes for EFHC1 Gene
- MGI mutant phenotypes for EFHC1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EFHC1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability of wild-type and TP53 knockout cells
- Increased shRNA abundance (Z-score > 2)
- Increased shRNA abundance
- Decreased shRNA abundance (Z-score < -2)
- Reduced shRNA abundance in FBW7 KO line
Animal Models for EFHC1 Gene
- MGI Knock Outs for EFHC1:
-
- Efhc1 Efhc1<tm1Kzy>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EFHC1 - Select products 50% OFF >
- * EFHC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EFHC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EFHC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFHC1
miRNA for EFHC1 Gene
- miRTarBase miRNAs that target EFHC1
-
- hsa-miR-17-5p (MIRT050971)
- hsa-miR-190a-3p (MIRT509167)
- hsa-miR-6832-5p (MIRT509168)
- hsa-miR-4732-5p (MIRT509169)
- hsa-miR-7852-3p (MIRT509170)
- hsa-miR-3668 (MIRT509171)
- hsa-miR-5011-5p (MIRT509172)
- hsa-miR-3163 (MIRT509173)
- hsa-miR-6856-5p (MIRT509174)
- hsa-miR-6758-5p (MIRT509175)
- hsa-miR-1277-5p (MIRT509176)
- hsa-miR-493-5p (MIRT516257)
- hsa-miR-3177-5p (MIRT516258)
- hsa-miR-5580-3p (MIRT516259)
- hsa-miR-514b-5p (MIRT569339)
- hsa-miR-513c-5p (MIRT569340)
- hsa-miR-6868-3p (MIRT569341)
- hsa-miR-6881-3p (MIRT569342)
- hsa-miR-6780a-3p (MIRT569343)
- hsa-miR-4755-3p (MIRT569344)
- hsa-miR-7111-3p (MIRT569345)
- hsa-miR-7110-3p (MIRT569346)
- hsa-miR-520f-5p (MIRT569347)
- hsa-miR-3667-3p (MIRT569348)
- hsa-miR-6734-3p (MIRT569349)
- hsa-miR-6769b-3p (MIRT569350)
- hsa-miR-4723-3p (MIRT569351)
- hsa-miR-3183 (MIRT569352)
- hsa-miR-484 (MIRT569353)
- hsa-miR-3155b (MIRT569354)
- hsa-miR-3155a (MIRT569355)
- hsa-miR-3922-5p (MIRT569356)
- hsa-miR-4753-5p (MIRT569357)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EFHC1
- Browse OriGene Inhibitory RNA Products For EFHC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHC1
Clone Products
- Applied Biological Materials (abm): Clones for EFHC1 - Select products 50% OFF >
- * EFHC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EFHC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EFHC1
Cell Line Products
-
Horizon Cell Lines for EFHC1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EFHC1 Gene
Localization for EFHC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EFHC1 Gene
- Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 3 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IEA,IDA | 28370826 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | IDA | 22926142 |
| GO:0005815 | microtubule organizing center | IEA | -- |
| GO:0005819 | spindle | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for EFHC1 Gene
Pathways & Interactions for EFHC1 Gene
Interacting Proteins for EFHC1 Gene
Selected Interacting proteins:
Q5JVL4-EFHC1_HUMAN
ENSP00000360107
for EFHC1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for EFHC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000281 | mitotic cytokinesis | IBA,IMP | 28370826 |
| GO:0007052 | mitotic spindle organization | IBA,IMP | 19734894 |
| GO:0021795 | cerebral cortex cell migration | IMP | 22926142 |
| GO:0051302 | regulation of cell division | IMP | 19734894 |
| GO:0060285 | cilium-dependent cell motility | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for EFHC1 Gene
Drugs & Compounds for EFHC1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Nutra | 6556 |
Transcripts for EFHC1 Gene
mRNA/cDNA for EFHC1 Gene
- 2 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 39 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000637849 2746 nts (view in UCSC)
- ENST00000635984 3293 nts (view in UCSC)
- ENST00000635760 2030 nts (view in UCSC)
- ENST00000491749 496 nts (view in UCSC)
- ENST00000637315 552 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EFHC1 - Select products 50% OFF >
- * EFHC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EFHC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EFHC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFHC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EFHC1
- Browse OriGene Inhibitory RNA Products For EFHC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHC1
Clone Products
- Applied Biological Materials (abm): Clones for EFHC1 - Select products 50% OFF >
- * EFHC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EFHC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EFHC1
Relevant External Links for EFHC1 Gene
- GeneLoc Exon Structure for
- EFHC1
Expression for EFHC1 Gene
This gene is overexpressed in Plasma (40.0) and Testis (23.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFHC1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFHC1
SOURCE GeneReport for Unigene cluster for EFHC1 Gene:
Hs.403171mRNA Expression by UniProt/SwissProt for EFHC1 Gene:
Q5JVL4-EFHC1_HUMAN
Tissue specificity:
Widely expressed. Not detected in lymphocytes.
Evidence on tissue expression from TISSUES for EFHC1 Gene
- Nervous system(4.8)
- Kidney(4.4)
- Lung(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EFHC1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- head
Primer Products
-
OriGene qPCR primer pairs for EFHC1
-
OriGene qPCR primer pairs and template standards for EFHC1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EFHC1 Gene
Orthologs for EFHC1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EFHC1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EFHC1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EFHC1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Efhc1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Efhc1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EFHC1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EFHC1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | EFHC1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EFHC1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | efhc1 30 |
|
||
| Str.9549 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11087 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | efhc1 30 31 |
|
OneToOne | |
| zgc63931 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003805 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | Y49A10A.1 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for EFHC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for EFHC1 Gene
- ENSEMBL:
- Gene Tree for EFHC1 (if available)
- TreeFam:
- Gene Tree for EFHC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EFHC1: view image
Paralogs for EFHC1 Gene
Variants for EFHC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFHC1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641875 | Uncertain Significance: Epilepsy, juvenile absence, susceptibility to, 1; Juvenile myoclonic epilepsy | 52,424,081(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 641895 | Uncertain Significance: Epilepsy, juvenile absence, susceptibility to, 1; Juvenile myoclonic epilepsy | 52,479,095(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 641921 | Uncertain Significance: Epilepsy, juvenile absence, susceptibility to, 1; Juvenile myoclonic epilepsy | 52,452,807(+) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 644582 | Uncertain Significance: Epilepsy, juvenile absence, susceptibility to, 1; Juvenile myoclonic epilepsy | 52,479,695(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 645721 | Likely Benign: Typical absence seizures; Juvenile myoclonic epilepsy | 52,420,464(+) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3341940 | CNV | insertion | 20981092 |
| esv3608996 | CNV | gain | 21293372 |
| nsv1025395 | CNV | gain | 25217958 |
| nsv472897 | CNV | novel sequence insertion | 20440878 |
| nsv517935 | CNV | loss | 19592680 |
| nsv522674 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.40;
77.08% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EFHC1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFHC1 Gene
Disorders for EFHC1 Gene
(27) MalaCards diseases for EFHC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, myoclonic juvenile |
|
|
| epilepsy, juvenile absence 1 |
|
|
| juvenile absence epilepsy |
|
|
| epilepsy |
|
|
| adolescence-adult electroclinical syndrome |
|
|
Search EFHC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EFHC1_HUMAN- Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269 PubMed:15258581, ECO:0000269 PubMed:17634063, ECO:0000269 PubMed:22690745, ECO:0000269 PubMed:22727576, ECO:0000269 PubMed:22926142, ECO:0000269 PubMed:28370826}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Juvenile absence epilepsy 1 (JAE1) [MIM:607631]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. {ECO:0000269 PubMed:17159113, ECO:0000305 PubMed:17159113}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Note=Mutation Leu-229 may be a cause of intractable epilepsy of infancy. Affected individuals have seizures of multiple type, manifested as tonic, clonic, and myoclonic seizures in the neonatal period, and as tonic seizures activated frequently by sleep, and repeated frequent myoclonic seizures in later infancy. The seizures are unresponsive to numerous antiepileptic drugs, and infants die in the first years of life. Although heterozygosity for Leu-229 has been associated with relatively benign forms of epilepsy in adolescence, homozygosity for the same mutation has much more severe consequences. {ECO:0000269 PubMed:22690745}.
Additional Disease Information for EFHC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for EFHC1 Gene
Publications for EFHC1 Gene
- Mutations in EFHC1 cause juvenile myoclonic epilepsy. (PMID: 15258581) Suzuki T … Yamakawa K (Nature genetics 2004) 2 3 4 41
- Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. (PMID: 17634063) Annesi F … Quattrone A (Epilepsia 2007) 3 4 23
- Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PMID: 16839746) Ma S … Hedera P (Epilepsy research 2006) 3 23 41
- Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy. (PMID: 28370826) Raju PK … Anand A (Human mutation 2017) 3 4
- Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. (PMID: 22926142) de Nijs L … Lakaye B (Human molecular genetics 2012) 3 4
ExternalLinks
Products for EFHC1 Gene
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- Search Origene for MassSpec and Protein Over-expression Lysates for EFHC1
- Origene Custom Protein Services for EFHC1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EFHC1
- Browse OriGene Inhibitory RNA Products For EFHC1
- OriGene qPCR primer pairs for EFHC1
- OriGene qPCR primer pairs and template standards for EFHC1
- OriGene CRISPR knockouts for EFHC1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EFHC1
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- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EFHC1
- Novus Biologicals proteins and lysates for EFHC1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for EFHC1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for EFHC1 (AFLGC-EFHC1)
- VectorBuilder Custom and pre-made DNA vectors for EFHC1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EFHC1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EFHC1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EFHC1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EFHC1
- antibodies-online: Show 8 available EFHC1 Antibodies ranked by validation data
- Compare Top EFHC1 Antibodies
- antibodies-online: Search results for available EFHC1 related products ranked by validation data
- antibodies-online: Show 5 available EFHC1 Proteins ranked by validation data
- Compare Top EFHC1 Proteins
- Quality Products:
- Horizon Cell Lines for EFHC1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EFHC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EFHC1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EFHC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHC1
- Boster Bio Antibodies for EFHC1
- Browse Boster Bio ELISA Kits
Sources for EFHC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB