EFHC1 (EF-hand domain containing 1)

基因基本信息

基因基本信息

symbol:
EFHC1
locus group:
protein-coding gene
location:
6p12.2
gene_family:
EF-hand domain containing
alias symbol:
FLJ10466|RIB72|POC9
alias name:
myoclonin-1
entrez id:
114327
ensembl gene id:
ENSG00000096093
ucsc gene id:
uc003pap.5
refseq accession:
NM_018100
hgnc_id:
HGNC:16406
approved reserved:
2001-08-21

基因染色体位置

基因染色体位置

6p12.2

基因简述

基因简述

EFHC1（EF-hand domain containing 1）是一个编码含EF手结构域蛋白的基因，属于EF-hand基因家族。EF-hand结构域是一种钙离子结合基序，能够感知和传递钙信号，因此该家族基因通常参与钙依赖性细胞过程，如神经元兴奋性调控、纤毛运动和细胞周期等。EFHC1主要在脑组织中高表达，尤其在海马体和大脑皮层神经元中，其蛋白产物通过调节电压门控钙通道（如T型钙通道）影响神经元电活动和突触传递。该基因的突变与青少年肌阵挛性癫痫（JME）密切相关，突变可能导致蛋白错误折叠或功能丧失，破坏钙信号平衡，从而诱发异常放电和癫痫发作。研究发现，EFHC1缺失的小鼠模型表现出癫痫易感性和神经元过度兴奋，而某些错义突变（如R182H）会干扰蛋白与微管蛋白的结合，影响神经元迁移和突触形成。EFHC1还与呼吸道纤毛功能相关，其表达下调可能导致纤毛运动障碍。过表达EFHC1可能通过过度抑制T型钙通道引发电活动减弱，而低表达则可能因钙信号失调导致癫痫阈值降低。该基因与MEIOB基因存在相互作用，共同维持减数分裂稳定性。EF-hand基因家族的共性是通过钙离子结合参与细胞信号转导，成员包括钙调蛋白（Calmodulin）和恢复蛋白（Recoverin）等。目前EFHC1的中文译名尚有争议，部分文献保留英文原名或译为“含EF手结构域蛋白1”。

中文English

该基因编码一个含有EF手钙结合蛋白。所编码的蛋白质可能起着钙稳态中起作用。该基因突变与易感性少年肌阵挛性癫痫和少年失神性癫痫。可变剪接转录物变体已有描述。 [由RefSeq的，2010年2月提供]

OMIM数据库中对EFHC1基因的介绍     Wikipedia数据库中对EFHC1基因的介绍

基因序列

基因序列

EFHC1基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MVSNPVHGLP FLPGTSFKDS TKTAFHRSQT LSYRNGYAIV
41RRPTVGIGGD RLQFNQLSQA ELDELASKAP VLTYGQPKQA
81 PPADFIPAH VAFDKKVLKF DAYFQEDVPM STEEQYRIRQ
121VNIYYYLEDD SMSVIEPVVE NSGILQGKLI KRQRLAKNDR
161G DHYHWKDL NRGINITIYG KTFRVVDCDQ FTQVFLESQG
201IELNPPEKMA LDPYTELRKQ PLRKYVTPSD FDQLKQFLTF
241DK QVLRFYA IWDDTDSMYG ECRTYIIHYY LMDDTVEIRE
281VHERNDGRDP FPLLMNRQRV PKVLVENAKN FPQCVLEISD
321QEV LEWYTA KDFIVGKSLT ILGRTFFIYD CDPFTRRYYK
361EKFGITDLPR IDVSKREPPP VKQELPPYNG FGLVEDSAQN
401CFAL IPKAP KKDVIKMLVN DNKVLRYLAV LESPIPEDKD
441RRFVFSYFLA TDMISIFEPP VRNSGIIGGK YLGRTKVVKP
481YSTVD NPVY YGPSDFFIGA VIEVFGHRFI ILDTDEYVLK
521YMESNAAQYS PEALASIQNH VRKREAPAPE AESKQTEKDP
561GVQELE ALI DTIQKQLKDH SCKDNIREAF QIYDKEASGY
601VDRDMFFKIC ESLNVPVDDS LVKELIRMCS HGEGKINYYN
641FVRAFSN
结构预测来自 AlphaFold DB（UniProt: Q5JVL4），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

EFHC1基因的碱基突变：           仅显示部分snp
rs15589       rs15598       rs471300       rs484734       rs485624       rs492153       rs497545       rs505760       rs509946       rs515432       rs520450       rs524944       rs530744       rs531257       rs539295       rs546247       rs553329      

基因表达

基因表达

EFHC1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CACCTTTGACAAACAGGTCC
59
ATGTAGGTCCGACATTCACC
60
CAGATATGAAGGGACCAAGGA
59
TCAGTTTGCTTGCTATGGG
58
GTTATTTGGCTGTACTGGAATCC
60
ATGTCGGTAGCTAGAAAGTAAGAG
60
CACCTTTGACAAACAGGTCC
59
ATGTAGGTCCGACATTCACC
60
CTCCTTGGTTAAGGAGTTAATCAG
59
GTCAGTTTGAGAAAGCACGA
59
TGTATCCAGAAACTTCGCTG
58
CAGTACTAGAAGAAGTCCTGGA
59
AAACCATACTCTACAGTGGAC
57
GACCAAACACTTCAATCACAG
58
TTGTATCCAGAAACTTCGCT
57
AGTACTAGAAGAAGTCCTGGA
57
CAGATATGAAGGGACCAAGG
58
TCAGTTTGCTTGCTATGGG
58
CCTTGGTTAAGGAGTTAATCAGG
59
GTCAGTTTGAGAAAGCACGA
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

EFHC1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

EFHC1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005509
Q5JVL4 (UniProtKB)
IEA
GO:0005515
Q5JVL4 (UniProtKB)
IPI
GO:0005515
Q5JVL4 (UniProtKB)
IPI
GO:0005515
Q5JVL4 (UniProtKB)
IPI
GO:0005515
Q5JVL4 (UniProtKB)
IPI
GO:0005737
Q5JVL4 (UniProtKB)
IEA
GO:0005813
Q5JVL4 (UniProtKB)
IDA
GO:0005930
Q5JVL4 (UniProtKB)
ISS
GO:0008022
Q5JVL4 (UniProtKB)
ISS
GO:0021795
Q5JVL4 (UniProtKB)
IMP
GO:0043025
Q5JVL4 (UniProtKB)
ISS
GO:0072686
Q5JVL4 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 EFHC1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
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关联基因 作用方式 资源库来源/分值

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Myoclonic Epilepsy, Juvenile 0.464036231 41 3 BeFree_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Absence Epilepsy 0.240814326 3 2 BeFree_CLINVAR_CTD_human
Migraine Disorders 0.005005506 2 0 BeFree_GAD
Epilepsy 0.004895885 8 2 BeFree_LHGDN
Idiopathic generalized epilepsy 0.003257302 12 0 BeFree
Alcoholic Intoxication, Chronic 0.002367032 1 0 GAD
Tobacco Use Disorder 0.002367032 1 0 GAD
Albuminuria 0.002367032 1 1 GAD
Epilepsy, Generalized 0.000814326 3 1 BeFree
Tonic - clonic seizures 0.000814326 3 1 BeFree

基因相关文献

基因相关文献

Myoclonin1 haploinsufficiency in motile ciliated cells partially recapitulates epileptic features of Efhc1-deficient mice in adult age.
Suzuki T, Tatsukawa T, Sudo G, Miyamoto H, Zhang Y, Holtzman MJ, Itohara S, Shimohata A, Amano K, Inoue I, Mazaki E, Yamakawa K Mol Cell Neurosci IF: 3.4 2026-06-00
A human-specific non-coding RNA for EFHC1, an epilepsy-associated gene, regulates neural stem cell proliferation for cortical development.
Nishida S, An B, Uchida H, Zenno S, Nojima T, Makimura A, Morishita F, Honda M, Imamura T Stem Cell Reports IF: 5.6 2026-08-20
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz Ingo, Esparza-Gordillo Jorge, Rüschendorf Franz, Bauerfeind Anja, Strachan David P, Spycher Ben D, Baurecht Hansjörg, Margaritte-Jeannin Patricia, Sääf Annika, Kerkhof Marjan, Ege Markus, Baltic Svetlana, Matheson Melanie C, Li Jin, Michel Sven, Ang Wei Q, McArdle Wendy, Arnold Andreas, Homuth Georg, Demenais Florence, Bouzigon Emmanuelle, Söderhäll Cilla, Pershagen Göran, de Jongste Johan C, Postma Dirkje S, Braun-Fahrländer Charlotte, Horak Elisabeth, Ogorodova Ludmila M, Puzyrev Valery P, Bragina Elena Yu, Hudson Thomas J, Morin Charles, Duffy David L, Marks Guy B, Robertson Colin F, Montgomery Grant W, Musk Bill, Thompson Philip J, Martin Nicholas G, James Alan, Sleiman Patrick, Toskala Elina, Rodriguez Elke, Fölster-Holst Regina, Franke Andre, Lieb Wolfgang, Gieger Christian, Heinzmann Andrea, Rietschel Ernst, Keil Thomas, Cichon Sven, Nöthen Markus M, Pennell Craig E, Sly Peter D, Schmidt Carsten O, Matanovic Anja, Schneider Valentin, Heinig Matthias, Hübner Norbert, Holt Patrick G, Lau Susanne, Kabesch Michael, Weidinger Stefan, Hakonarson Hakon, Ferreira Manuel A R, Laprise Catherine, Freidin Maxim B, Genuneit Jon, Koppelman Gerard H, Melén Erik, Dizier Marie-Hélène, Henderson A John, Lee Young Ae Nat Commun IF: 12.124 2016-05-10
Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling.
Zhao Ying, Shi Jianli, Winey Mark, Klymkowsky Michael W Dev Biol IF: 2.1 2016-08-03
Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.
von Podewils Felix, Kowoll Victoria, Schroeder Winnie, Geithner Julia, Wang Zhong I, Gaida Bernadette, Bombach Paula, Kessler Christof, Felbor Ute, Runge Uwe Epilepsy Behav IF: 2.4 2015-12-01
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran Ryan L, Conte Juliette M, Stewart William C L, Greenberg David A Epilepsia IF: 5.6 2015-05-07
What is special about the adolescent (JME) brain?
Craiu Dana Epilepsy Behav IF: 2.4 2014-01-27
The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta Antonio V, Koeleman Bobby P C, Bailey Julia N, Medina Marco T, Durón Reyna M Epilepsy Behav IF: 2.4 2014-01-27
Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
de Nijs Laurence, Wolkoff Nathalie, Grisar Thierry, Lakaye Bernard Epilepsy Behav IF: 2.4 2014-01-27
Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?
Yamakawa Kazuhiro, Suzuki Toshimitsu Epilepsy Behav IF: 2.4 2014-01-27

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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