• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


EFHC1 EF-hand domain (C-terminal) containing 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001172420 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_018100 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

Gene Symbol EFHC1
Entrez Gene ID 114327
Full Name EF-hand domain (C-terminal) containing 1
Synonyms EJM1, dJ304B14.2
General protein information
Preferred Names
EF-hand domain-containing protein 1
Names
EF-hand domain-containing protein 1
myoclonin-1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p12.3

Summary 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].
Disorder

MIM: 608815

{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);

mRNA Protein Product Sequence Price Select
NM_001172420, 289063385 NP_001165891, 289063386 EF-hand domain-containing protein 1 isoform 2 ORF Sequence $700.00
NM_018100, 156616291 NP_060570, 156616292 EF-hand domain-containing protein 1 isoform 1 ORF Sequence $700.00
Homo sapiens (human)EFHC1NP_060570.2
Pan troglodytes (chimpanzee)EFHC1XP_001152433.1
Macaca mulatta (Rhesus monkey)EFHC1XP_001107470.1
Canis lupus familiaris (dog)EFHC1XP_005627529.1
Bos taurus (cattle)EFHC1NP_001179173.1
Mus musculus (house mouse)Efhc1NP_082250.1
Rattus norvegicus (Norway rat)Efhc1NP_001116419.2
Gallus gallus (chicken)EFHC1XP_420047.2
Danio rerio (zebrafish)efhc1NP_957261.1
Xenopus (Silurana) tropicalis (western clawed frog)efhc1NP_001008106.1
Component
IDNameEvidence
GO:0005930axonemeISS
GO:0043025neuronal cell bodyISS
Function
IDNameEvidence
GO:0005509calcium ion bindingIEA
GO:0008022protein C-terminus bindingISS
GeneCards EFHC1
UniProt B2CKC5, Q5JVL4
Vega OTTHUMG00000014848
MIM 608815
Ensembl ENSG00000096093
HGNC 16406
HPRD 10583

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the EFHC1 gene?

The EFHC1 gene provides instructions for making a protein called EF-hand domain containing protein 1 (EFHC1). The EFHC1 protein interacts with another protein that acts as a calcium channel, allowing positively charged calcium atoms (calcium ions) to cross the cell membrane. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The role of the EFHC1 protein is not well understood, although it is thought to help regulate the balance of calcium ions inside the cell (calcium homeostasis). Studies also show that the EFHC1 protein may stimulate the self-destruction of cells (apoptosis).

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.