EFHC1 - EF-hand domain containing 1 Gene

Homo sapiens

Also known as EJM1; POC9; RIB72; dJ304B14.2

Gene ID: 114327 | Gene type: protein coding

About EFHC1

Cytogenetic location: 6p12.2 Genomic coordinates (GRCh38): 6:52,420,342-52,497,198 (from NCBI)

This gene has 39 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 8.2), thyroid (RPKM 5.9) and 24 other tissues.

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]

EFHC1 Products(2)

mRNA	Protein	Name
NM_001172420.2	NP_001165891.1	EF-hand domain-containing protein 1 isoform 2
NM_018100.4	NP_060570.2	EF-hand domain-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables alpha-tubulin binding	IDA IDA: Inferred from direct assay	19734894	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cerebral cortex cell migration	IMP IMP: Inferred from mutant phenotype	22926142	GOA
involved in mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	28370826	GOA
involved in mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	19734894	GOA
involved in regulation of cell division	IMP IMP: Inferred from mutant phenotype	19734894	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in axonemal microtubule	IDA IDA: Inferred from direct assay	36191189	GOA
located in centrosome	IDA IDA: Inferred from direct assay	22926142	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	19734894	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	28370826	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EFHC1 Protein Structure

DUF1126

0
100
200
300
400
500
600
640 a.a.

Protein Preferred Names

Protein Names

EF-hand domain-containing protein 1

EF-hand domain (C-terminal) containing 1

Related Diseases

Diseases

Alias

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Epilepsy, Juvenile Absence 1

Epilepsy, Juvenile Absence, Susceptibility To, 1	EJA1
JAE1	Juvenile Absence Epilepsy 1
Susceptibility To Juvenile Absence Epilepsy 1	Epilepsy, Juvenile Absence, Susceptibility To, Type 1
Absence Epilepsy

Juvenile Absence Epilepsy

Epilepsy Juvenile Absence	Jae
Childhood Absence Epilepsy	Absence Epilepsy

Adolescence-Adult Electroclinical Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy	Epileptic Seizures, Tonic-Clonic
Grand Mal Epilepsy	Epilepsy, Tonic-Clonic

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

Childhood Electroclinical Syndrome

Early Onset Absence Epilepsy

Epilepsy, Familial Temporal Lobe, 1

ETL1	Adpeaf
Adlte	Epilepsy, Partial, With Auditory Features
Autosomal Dominant Partial Epilepsy With Auditory Features	Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
Familial Temporal Lobe Epilepsy 1	Partial Epilepsy With Auditory Features
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Lateral Temporal Lobe Epilepsy Autosomal Dominant
Epilepsy, Temporal Lobe, Familial, Type 1

Photosensitive Epilepsy

Pse	Photogenic Epilepsy
Photoparoxysmal Response	Reflex Epilepsy, Photosensitive
Photoparoxysmal Response 1

Benign Neonatal Seizures

Benign Neonatal Epilepsy	Benign Familial Neonatal Seizures
Benign Neonatal Convulsions	Benign Familial Neonatal Convulsions
Benign Familial Neonatal Epilepsy	Bfne
Bfns	Seizures, Benign Neonatal
Neonatal Convulsions Benign	Epilepsy, Benign Neonatal
Epilepsy, Benign Neonatal, 2	Benign Familial Convulsion
Familial Benign Neonatal Epilepsy

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle	Autosomal Dominant Sleep-Related Hypermotor Epilepsy
Enfl	Benign Familial Infantile Seizures 6
Benign Familial Infantile Seizures, 6	Nocturnal Frontal Lobe Epilepsy-4
Enfl1	Epilepsy, Nocturnal Frontal Lobe, 1
Epilepsy, Nocturnal Frontal Lobe, Type 1

Endocrine-Cerebroosteodysplasia

Endocrine-Cerebro-Osteodysplasia Syndrome	ECO
Eco Syndrome

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Pitt-Hopkins-Like Syndrome 1

Cortical Dysplasia-Focal Epilepsy Syndrome	CDFES
PTHSL1	Cdfe Syndrome
Pitt-Hopkins Like Syndrome 1	Pitt-Hopkins-Like Syndrome-1
Cntnap2-Related Developmental And Epileptic Encephalopathy	Cntnap2-Related Dee
Mesh	D006985
Mesh	D008607

Neonatal Period Electroclinical Syndrome

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Generalized Epilepsy With Febrile Seizures Plus

Gefs+	Genetic Epilepsy With Febrile Seizures Plus
Generalized Epilepsy With Febrile Seizures-Plus	Genetic Epilepsy With Febrile Seizures-Plus
Epilepsy, Generalized, With Febrile Seizures Plus

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Familial Febrile Seizures

Familial Febrile Convulsions	Feb
Febrile Seizures, Familial

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures	Bfie
Benign Familial Infantile Convulsion	Bfic
Bfis	Benign Familial Infantile Convulsions
Familial Benign Neonatal Epilepsy	Watanabe-Vigevano Syndrome

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04188	EFHC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EFHC1	RGD	RGD:1587365
Felis catus	EFHC1	VGNC	VGNC:102417
Bos taurus	EFHC1	VGNC	VGNC:28351
Canis familiaris	EFHC1	VGNC	VGNC:40223
Macaca mulatta	EFHC1	VGNC	VGNC:72052
Mus musculus	EFHC1	MGD	MGI:1919127

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