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

Summary

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Official Symbol: EFHC1provided by HGNC
Official Full Name: EF-hand domain (C-terminal) containing 1provided by HGNC
Primary source: HGNC:16406
See related: Ensembl:ENSG00000096093; HPRD:10583; MIM:608815
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: dJ304B14.2
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]

Genomic context

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Location :: 6p12.3

Sequence :: Chromosome: 6; NC_000006.11 (52284994..52360583)

See EFHC1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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

These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established.
Title: Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients.
Title: Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
homozygous Phe229Leu mutation associated with primary intractable epilepsy in infancy
Title: Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
Title: The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
The results of this study show that four coding SNPs, rs3804506, rs3804505, rs1266787, and rs17851770, of EFHC1 may not be susceptibility alleles for juvenile myoclonic epilepsy.
Title: DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Under reducing condition Ca(2+) or Mg(2+) ions bind to EFHC1C in a 1/1 molar ratio, while under oxidizing condition this ratio is reduced, showing that EFHC1C dimerization blocks Ca(2+) and Mg(2+) binding
Title: Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand.
Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1
Title: Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
Observational study of gene-disease association. (HuGE Navigator)
Title: DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

Submit: New GeneRIF Correction See all (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q5JVL4	Q15878	CACNA1E	HPRD	PubMed
Q5JVL4	TEX11	TEX11	HPRD	PubMed
BioGRID:125313	BioGRID:107231	CACNA1E	BioGRID	PubMed	Affinity Capture-Western
BioGRID:125313	BioGRID:121093	TEX11	BioGRID	PubMed	Two-hybrid

General gene information

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Markers

STS-AA037246 (e-PCR)
- UniSTS:3605

RH102236 (e-PCR)
- UniSTS:96570

NIB1406 (e-PCR)
- UniSTS:56676

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-81734 (e-PCR)
- UniSTS:103906

Genotypes

See EFHC1 SNP Geneview Report
See EFHC1 SNP Genotype Report
See EFHC1 SNP Variation Viewer Report

Homology

Homologs of the EFHC1 gene: The EFHC1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and mosquito.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
protein C-terminus binding	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
axoneme	ISS Inferred from Sequence or Structural Similarity more info
cilium	IEA Inferred from Electronic Annotation more info
neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: EF-hand domain-containing protein 1

Names: EF-hand domain-containing protein 1; myoclonin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016760.1 RefSeqGene

Range

5001..80590

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172420.1 → NP_001165891.1 EF-hand domain-containing protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant A. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK297632, AL049611, AY608689, BQ268404, EU520261

Consensus CDS

CCDS55021.1

UniProtKB/TrEMBL

B2CKC5

UniProtKB/Swiss-Prot

Q5JVL4

Related

ENSP00000444521, ENST00000538167

Conserved Domains (3) summary

cd00051
Location:560 – 620
Blast Score: 109

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

smart00676
Location:74 – 179
Blast Score: 364

DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases.

pfam13499
Location:565 – 619
Blast Score: 79

EF_hand_5; EF-hand domain pair
NM_018100.3 → NP_060570.2 EF-hand domain-containing protein 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (A) encodes the longer isoform (1).

Source sequence(s)

AK001328, AL049611, BC020210, BQ270560, DA906669

Consensus CDS

CCDS4942.1

UniProtKB/TrEMBL

B2CKC5

UniProtKB/Swiss-Prot

Q5JVL4

Conserved Domains (3) summary

cd00051
Location:579 – 639
Blast Score: 109

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

smart00676
Location:93 – 198
Blast Score: 365

DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases.

pfam13499
Location:584 – 638
Blast Score: 80

EF_hand_5; EF-hand domain pair

RNA

NR_033327.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (B) contains an alternate segment, compared to variant A. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant A, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK001328, AK225543, AL049611, AL122084, BQ268404, DA906669

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p10 Primary Assembly

Range

52284994..52360583

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

52116296..52191906

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018917.1 Alternate CHM1_1.0

Range

52197716..52273311

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01050555.1 (60549..136159)	None
genomic	AL049611.24 (101..19378)	None
genomic	AL136125.5 (27403..83714)	None
genomic	AMYH01016351.1 (21964..97559)	None
genomic	CH471081.1	EAX04370.1
		EAX04371.1
		EAX04372.1
genomic	CS185610.1	CAJ42791.1
mRNA	AK001328.1	BAA91628.1
mRNA	AK094609.1	None
mRNA	AK225543.1	None
mRNA	AK295064.1	BAH11960.1
mRNA	AK297632.1	BAG60005.1
mRNA	AL122084.1	None
mRNA	AY608689.1	AAT67418.1
mRNA	AY608690.1	AAT67419.1
mRNA	BC012921.1	None
mRNA	BC020210.1	AAH20210.1
mRNA	BQ268404.1	None
mRNA	BQ270560.1	None
mRNA	DA906669.1	None
mRNA	EU520261.1	ACB20691.1
other-genetic	DQ892170.2	ABM83096.1
other-genetic	DQ895364.2	ABM86290.1