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ZIRC
ZFIN ID: ZDB-GENE-040426-1300
Gene Name: EF-hand domain (C-terminal) containing 1
Gene Symbol: efhc1    Nomenclature History

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Previous Name: zgc:63931 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 20 Mapping Details/Browsers
Description: Predicted to have alpha-tubulin binding activity. Predicted to be involved in cilium-dependent cell motility; mitotic cytokinesis; and mitotic spindle organization. Predicted to localize to the axoneme and mitotic spindle. Human ortholog(s) of this gene implicated in juvenile absence epilepsy 1 and juvenile myoclonic epilepsy. Is expressed in several structures, including Kupffer's vesicle; central nervous system; forerunner cell group; neural tube; and pronephros. Orthologous to human EFHC1 (EF-hand domain containing 1).
Genome Resources: Alliance (1),  Gene:393942 (1),  Ensembl(GRCz11):ENSDARG00000009743 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
DISEASE ASSOCIATED WITH efhc1 HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
juvenile absence epilepsy 1 Alliance {Epilepsy, juvenile absence, susceptibility to, 1} 607631
juvenile myoclonic epilepsy Alliance {Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770
DISEASE ASSOCIATED WITH efhc1 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process SRP-dependent cotranslational protein targeting to membrane, translocation (more)
Cellular Component integral component of membrane (more)
Molecular Function alpha-tubulin binding (more)
GO Terms (all 9)
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA efhc1-201 (1)    Ensembl 2161
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM efhc1 No data available
MARKER RELATIONSHIPS
efhc1 Contained in: [Fosmid] CH1073-451I17 (1) (order this)
efhc1 Encodes: [cDNA] MGC:63931 (1) (order this)
SEQUENCE INFORMATION
Type Accession # Length (bp/aa) Analysis
RNA RefSeq:NM_200967 (1) 1858 bp
Genomic GenBank:CU929351 (1) 33329 bp
Select Tool
Polypeptide UniProtKB:F1Q8A4 (1) 554 aa
Sequence Clusters UniGene:80941 (1)
Sequence Information (all 14)
ORTHOLOGY for efhc1 ( Chr: 20 )
CITATIONS (21)