H-Inv ID |
HIT000087967 |
H-Inv cluster ID |
HIX0005952
|
H-Inv protein ID |
HIP000113430
|
Accession number |
BC012921.1
|
CAGE tag ID |
NA
|
EST ID |
NA
|
Genomic location
|
Chromosome |
6 |
Location |
6p12.2
|
Position |
52285170-
52357307
|
Strand |
+
|
Transcript feature
|
NO;
|
Coding potential
|
Protein coding;
|
Definition |
Similar to EF-hand domain-containing protein 1; Myoclonin-1; |
Similarity category
|
Category: Similar to known protein(Category II).
|
Similar to known protein (Q5JVL4)
[Identity/coverage = 100.0%/100.0%] to
Homo sapiens (Human). protein.
|
Gene family / group |
NA
|
Gene symbol/name |
HGNC symbol |
EFHC1
|
HGNC aliases |
"epilepsy, juvenile myoclonic 1"
|
HGNC name |
EF-hand domain (C-terminal) containing 1
|
DDBJ |
NA
|
UniProt |
EFHC1
|
EC number |
NA
|
KEGG metabolic pathway |
NA
|
PubMed ID |
14574404;
14702039;
15258581;
15489334;
17159113;
17634063;
ALL;
|
Related H-InvDB links |
Similarity Search Tool
|
Database links |
RefSeq |
NA
|
Ensembl |
NA
|
Entrez Gene |
Entrez Gene ID:114327;
|
KEGG GENES |
KEGG GENES(114327);
|
GeneCard |
EFHC1;
*GeneCards is provided free to academic non-profit institutions.
|
etc |
Human-Gene diversity Of Life-style related Diseases;
|
Curation status |
Auto-annotated
|
Notes |
NA
|