EFHC1
Sign in to saveAlso known as EJM1, dJ304B14.2, EF-hand domain containing 1, POC9, RIB72
EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.
In the Vinony graph
Vinony's link graph records 8 inbound references to EFHC1, and connects out to PubMed, human chromosome 6 and Ensembl genome database project.
It sits within the topics EF-hand-containing proteins and Genes on human chromosome 6.
Vinony links it to 6 Wikipedia language editions.
Gene data
EFHC1- Name
- EF-hand domain containing 1
- Type
- protein-coding
- Position
- 52,362,123–52,529,886 (+)
- Aliases
- EJM1, POC9, RIB72, dJ304B14.2
- Ensembl
- ENSG00000096093
- RefSeq RNA
- NM_001172420.2, NM_018100.4, NR_033327.2
- RefSeq protein
- NP_001165891.1, NP_060570.2
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].
Gene Ontology
Biological process
Pathways
via MyGene.info
Gene · Ensembl
EF-hand domain containing 1
- Symbol
- EFHC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:52,362,123-52,529,886
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 10003
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/114327
- genomic end
- 52387892
- genomic start
- 52285106
- chromosome
- human chromosome 6
- cytogenetic location
- 6p12.2
- expressed in
- pituitary gland
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.
Not all variants of EFHC1 are pathogenic. ==References==
Excerpted from Wikipedia’s “EFHC1” article, available under the CC BY-SA 4.0 licence.