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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EFHC1 Gene

protein-coding   GIFtS: 55
GCID: GC06P052284

EF-hand domain (C-terminal) containing 1
 Explore 9 diseases affiliated with
EFHC1 via
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 Human Malady Compendium 
Biological research products
for EFHC1    

Aliases
for EFHC1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
EF-Hand Domain (C-Terminal) Containing 11 2     EJA15
DJ304B14.21     EJM15
EF-Hand Domain-Containing Protein 12     FLJ104665
Myoclonin-13     JAE5
Myoclonin-13     

External Ids:    HGNC: 164061   Entrez Gene: 1143272   Ensembl: ENSG000000960937   OMIM: 6088155   UniProtKB: Q5JVL43   
ORGUL members:         
NONCODE:n409172    

Export aliases for EFHC1 gene to outside databases

Previous GC identifers: GC00U991099 GC06U900420 GC06P052331 GC06P052393 GC06P052116


Summaries
for EFHC1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for EFHC1:
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)

UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
Function: May enhance calcium influx through CACNA1E and stimulate programmed cell death

Gene Wiki entry for EFHC1


Genomic Views
for EFHC1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EFHC1 gene promoter:
         GR   RFX1   USF1   AML1a   Nkx2-2   POU2F1   USF-1   STAT3   ZIC2/Zic2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EFHC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EFHC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFHC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.2   HGNC cytogenetic band: 6p12.3

EFHC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFHC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P052284:  view genomic region     (about GC identifiers)

Start:
 52,284,994 bp from pter      End:
 52,387,892 bp from pter
Size:
 102,899 bases      Orientation:
 plus strand

Proteins
for EFHC1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4 (See protein sequence)
Recommended Name: EF-hand domain-containing protein 1  
Size: 640 amino acids; 73990 Da
Subunit: Interacts with the C-terminus of CACNA1E
Secondary accessions: B4DMU3 F5GZD8 Q5XKM4 Q6E1U7 Q6E1U8 Q8WUL2 Q9NVW6
Alternative splicing: 3 isoforms:  Q5JVL4-1   Q5JVL4-2   Q5JVL4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFHC1: NX_Q5JVL4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5JVL4

    • EFHC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165891.1  NP_060570.2  

    ENSEMBL proteins: 
     ENSP00000360107   ENSP00000434498   ENSP00000444521   ENSP00000416492  

    Human Recombinant Protein Products: 
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    Novus Biologicals EFHC1 Proteins
    Novus Biologicals EFHC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EFHC1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IEA--
    GO:0005930axoneme ISS--
    GO:0019861flagellum ----
    GO:0043025neuronal cell body ISS--


    EFHC1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EFHC1

    Protein Domains /
    Families
    for EFHC1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EFHC1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR010554 DUF1126
     IPR006602 Uncharacterised_DM10

    Graphical View of Domain Structure for InterPro Entry Q5JVL4

    ProtoNet protein and cluster: Q5JVL4

    UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
    Similarity: Contains 3 DM10 domains
    Similarity: Contains 1 EF-hand domain


    Function
    for EFHC1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
    Function: May enhance calcium influx through CACNA1E and stimulate programmed cell death

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EFHC1
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate EFHC1 (see all 14):
    hsa-miR-485-5p hsa-miR-136 hsa-miR-3607-3p hsa-miR-607 hsa-miR-222* hsa-miR-331-3p hsa-miR-488 hsa-miR-548b-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EFHC1 (see all 4)
    OriGene shRNA RFP: EFHC1
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for EFHC1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008022protein C-terminus binding ISS--


    EFHC1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for EFHC1:
     Decreased viability of wild-ty 

    Animal Models:
         Mouse knock-out Efhc1tm1Kzy for EFHC1
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Efhc1):
     behavior/neurological  muscle  nervous system 

    EFHC1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EFHC1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EFHC1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for EFHC1 (Q5JVL42, 3 ENSP000003601074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TEX11Q8IYF32, 3, ENSP000003409954MINT-66318 I2D: score=4 STRING: ENSP00000340995
    CACNA1EQ158783, ENSP000003565454I2D: score=2 STRING: ENSP00000356545
    About this table

    Drugs & Compounds
    for EFHC1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EFHC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EFHC1

    1 HMDB Compound for EFHC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    1 Novoseek chemical compound relationship for EFHC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 10.3 1 16572395 (1)

    Search CenterWatch for drugs/clinical trials and news about EFHC1 

    Transcripts
    for EFHC1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for EFHC1 gene (2 alternative transcripts): 
    NM_001172420.1  NM_018100.3  

    Unigene Cluster for EFHC1:

    EF-hand domain (C-terminal) containing 1
    Hs.403171  [show with all ESTs]
    Unigene Representative Sequence: NR_033327
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371068 ENST00000480623 ENST00000491749 ENST00000481466 ENST00000538167(uc003pap.4 uc011dww.2)
    ENST00000433625(uc011dwv.1)

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate EFHC1 (see all 14):
    hsa-miR-485-5p hsa-miR-136 hsa-miR-3607-3p hsa-miR-607 hsa-miR-222* hsa-miR-331-3p hsa-miR-488 hsa-miR-548b-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EFHC1 (see all 4)
    OriGene shRNA RFP: EFHC1
    OriGene siRNA: EFHC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EFHC1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EFHC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EFHC1

    Additional cDNA sequence: 

    AK001328.1 AK094609.1 AK225543.1 AK295064.1 AK297632.1 AL122084.1 AY608689.1 BC012921.1 
    BC020210.1 EU520261.1 NR_033327.1 

    12 DOTS entries:

    DT.215610  DT.207736  DT.97784374  DT.95362352  DT.70104517  DT.100025000  DT.100659305  DT.100659307 
    DT.121389191  DT.121389225  DT.121389232  DT.95125733 

    24/202 AceView cDNA sequences (see all 202):

    AA453607 AU280496 CD108826 AI032670 BQ574334 AI609176 AA330970 AI081858 
    AI963736 CA423283 BM836789 BM978821 BU686653 CB215558 AW503355 BC012921 
    AW102746 CB156084 AA582539 BP375730 CR606154 F05000 F01968 AA287162 

    GeneLoc Exon Structure


    Expression
    for EFHC1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EFHC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGAAGGCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EFHC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See EFHC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EFHC1

    SOURCE GeneReport for Unigene cluster: Hs.403171

    UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
    Tissue specificity: Widely expressed. Not detected in lymphocytes

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    In Situ
    Assay Products:     
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    Orthologs
    for EFHC1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for EFHC1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EFHC11 EF-hand domain (C-terminal) containing 1 67.24(n)
    67.08(a)    		   422041  XM_420047.3  XP_420047.2 
    lizard
    (Anolis carolinensis)    		 Reptilia EFHC16
    		 --
    		 62(a)
    		 1 ↔ 1
    		 1(122922616-122946181)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.110872 Xenopus laevis transcribed sequence with weak similarity more 71.81(n)    CF547854.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc639312 similar to EF-hand domain (C-terminal) containing 1 70.35(n)   393942  BC054573.1 
    mosquito
    (Anopheles gambiae)    		 Insecta AgaP_AGAP0038051 AGAP003805-PA 49.04(n)
    45.19(a)    		   1271542  XM_310360.6  XP_310360.6 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y49A10A.16
    		 Protein Y49A10A.1
    		 23(a)
    		 possible ortholog
    		 X(10358416-10360490)


    ENSEMBL Gene Tree for EFHC1 (if available)
    TreeFam Gene Tree for EFHC1 (if available) 

    Paralogs
    for EFHC1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EFHC1 gene
    EFHC22  
    1 SIMAP similar gene for EFHC1 using alignment to 3 protein entries:     EFHC1_HUMAN (see all proteins):
    EFHC2

    EFHC1 for paralogs           About GeneDecksing



    Genomic Variants
    for EFHC1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1338 NCBI SNPs in EFHC1 are shown (see all 1338)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378527761,2
    		C,F,other62386896(+) CAGACT/CTTGAT 5 /L /F mis12Minor allele frequency- C:0.00NA EU 5873
    rs797611831,2
    		C,F,other62386919(+) TCTTCG/ATAAGT 5 /H /R mis12Minor allele frequency- A:0.01WA NA 4668
    rs38045051,2
    		C,F,H,other62401132(-) CAACGC/TGGAAA 5 H R nc-transcript-variantmis1 ese326Minor allele frequency- T:0.04NS EA NA EU 8747
    rs1490553341,2
    		C,F,other62415583(+) GCCAAC/ACTAAA 5 /T /P mis11Minor allele frequency- A:0.01NA 4548
    rs765277501,2
    		F,--52114855(+) CATCAA/GTAACT 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs737403751,2
    		C--52115201(+) CCCCCC/AAAAAA 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs769699261,2
    		F,--52115275(+) AGCATC/GAAAGG 3 -- us2k11Minor allele frequency- G:0.03NA 120
    rs753424671,2
    		F,--52115526(+) AAAACA/GAAGGT 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs781572481,2
    		C,F,--52115547(+) AGGGAT/CTGATG 3 -- us2k12Minor allele frequency- C:0.06NA EA 240
    rs2010151031,2
    		C--52115859(-) AATTCC/TCCCAC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for EFHC1 (52284994 - 52387892 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EFHC1: --
    Human Gene Mutation Database (HGMD): EFHC1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EFHC1
    DNA2.0 Custom Variant and Variant Library Synthesis for EFHC1

    Disorders / Diseases
    for EFHC1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EFHC1 for disorders           About GeneDecksing

    OMIM gene information: 608815   
    OMIM disorders: 254770  607631  
    UniProtKB/Swiss-Prot: EFHC1_HUMAN, Q5JVL4
  • Defects in EFHC1 are the cause of juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]. EJM1 is a subtype of
    • idiopathic generalized epilepsy (IGE). 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
  • Genetic variations in EFHC1 are the cause of susceptibility to juvenile absence epilepsy type 1 (JAE1)
    • [MIM:607631]. JAE is 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

    9 diseases for EFHC1:    About MalaCards
    juvenile myoclonic epilepsy    juvenile absence epilepsy    absence epilepsy    epilepsy, juvenile absence, susceptibility to, 1
    idiopathic generalized epilepsy    generalized epilepsy    myoclonus    migraine
    seizures

    4 diseases from the University of Copenhagen DISEASES database for EFHC1:
    Idiopathic generalized epilepsy     Juvenile absence epilepsy     Epilepsy with generalized tonic-clonic seizures     Unverricht-Lundborg syndrome

    3 Novoseek disease relationships for EFHC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myoclonic epilepsy juvenile 93.9 8 16824517 (2), 17634063 (2), 17054699 (1), 16839746 (1) (see all 6)
    epilepsy, idiopathic generalized 79.5 1 17336771 (1)
    epilepsy generalized 68.8 2 16049035 (1), 16278970 (1)

    Genetic Association Database (GAD): EFHC1
    Human Genome Epidemiology (HuGE) Navigator: EFHC1 (7 documents)

    Export disorders for EFHC1 gene to outside databases

    Publications
    for EFHC1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EFHC1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with EFHC1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in EFHC1 cause juvenile myoclonic epilepsy. (PubMed id 15258581)1, 2, 4 Suzuki T....Yamakawa K. (2004)
    2. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. (PubMed id 17634063)1, 2, 9 Annesi F....Quattrone A. (2007)
    3. Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG. (PubMed id 16378686)1, 4 Norberg A....Holmberg M. (2006)
    4. Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. (PubMed id 17159113)1, 2 Stogmann E....Zimprich A. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families. (PubMed id 17054699)1, 9 Pinto D....Koeleman B.P. (2006)
    9. EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. (PubMed id 16824517)1, 9 de Nijs L....Chanas G. (2006)
    10. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PubMed id 16839746)1, 9 Ma S....Hedera P. (2006)

    External Searches for EFHC1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing EFHC1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 114327 HGNC: 16406 AceView: EFHC1 Ensembl:ENSG00000096093 euGenes: HUgn114327
    ECgene: EFHC1 H-InvDB: EFHC1

    Other Databases showing EFHC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EFHC1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EFHC1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/Myoclonin1/EFHC1

    Intellectual Property
    for EFHC1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for EFHC1 gene:
    Search GeneIP for patents involving EFHC1

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