KEGG ORTHOLOGY: K23029

ORTHOLOGY: K23029

Entry

K23029                      KO

Symbol

EFHC1

Name

EF-hand domain-containing protein 1

Disease

H02216

Juvenile absence epilepsy

H02217

Juvenile myoclonic epilepsy

Brite

KEGG Orthology (KO) [BR:ko00001]
09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins
    K23029  EFHC1; EF-hand domain-containing protein 1
   04812 Cytoskeleton proteins
    K23029  EFHC1; EF-hand domain-containing protein 1
   04990 Domain-containing proteins not elsewhere classified
    K23029  EFHC1; EF-hand domain-containing protein 1
Cilium and associated proteins [BR:ko03037]
Motile cilia and associated proteins
  Other motile cilia associated proteins
   K23029  EFHC1; EF-hand domain-containing protein 1
Cytoskeleton proteins [BR:ko04812]
Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Microtubule-associated proteins (MAPs)
     K23029  EFHC1; EF-hand domain-containing protein 1
Domain-containing proteins not elsewhere classified [BR:ko04990]
EF-hand domain-containing proteins
  Other EF-hand domain-containing proteins
   K23029  EFHC1; EF-hand domain-containing protein 1

Other DBs

GO:

0043014

Genes

HSA:	114327(EFHC1)

PTR:	462765(EFHC1)

PPS:	100978025(EFHC1)

GGO:	101145802(EFHC1)

PON:	100443991(EFHC1)

NLE:	100586187(EFHC1)

HMH:	116460441(EFHC1)

MCC:	708517(EFHC1)

MCF:	101926112(EFHC1)

MTHB:

126953679

MNI:	105490863(EFHC1)

CSAB:

103221365(EFHC1)

CATY:

105590430(EFHC1)

PANU:

100999187(EFHC1)

TGE:	112622267(EFHC1)

MLEU:

105540612(EFHC1)

RRO:	104663022(EFHC1)

RBB:	108513752(EFHC1)

TFN:	117087351(EFHC1)

PTEH:

111543167(EFHC1)

CANG:

105524826(EFHC1)

CJC:	100399650(EFHC1)

SBQ:	101036270(EFHC1)

CIMI:

108314121(EFHC1)

CSYR:

103257570(EFHC1)

MMUR:

105869187(EFHC1)

LCAT:

123632943(EFHC1)

PCOQ:

105813768(EFHC1)

OGA:	100955321(EFHC1)

MMU:	71877(Efhc1)

MCAL:

110294352(Efhc1)

MPAH:

110322408(Efhc1)

RNO:	301295(Efhc1)

MCOC:

116088227(Efhc1)

ANU:	117722779(Efhc1)

MUN:	110548311(Efhc1)

CGE:	100774119(Efhc1)

MAUA:

101827670(Efhc1)

PROB:

127236709(Efhc1)

PLEU:

114692346(Efhc1)

MORG:

121450948(Efhc1)

MFOT:

126489679

AAMP:

119823284(Efhc1)

NGI:	103727366(Efhc1)

HGL:	101717297(Efhc1)

CPOC:

100736135(Efhc1)

CCAN:

109699879(Efhc1)

DORD:

105987816(Efhc1)

DSP:	122101599(Efhc1)

PLOP:

125352488(Efhc1)

NCAR:

124988752

MMMA:

107143991(Efhc1)

OCU:

100352671

OPI:	101520442(EFHC1)

TUP:	102489530(EFHC1)

GVR:	103609852(EFHC1)

CFA:	474935(EFHC1)

CLUD:

112641742(EFHC1)

VVP:	112914063(EFHC1)

VLG:	121472108(EFHC1)

NPO:	129512337(EFHC1)

AML:	100482736(EFHC1)

UMR:	103664006(EFHC1)

UAH:	113261191(EFHC1)

UAR:	123795498(EFHC1)

ELK:

111152360

LLV:

125101911

MPUF:

101670799(EFHC1)

MNP:	132017248(EFHC1)

MLK:	131834091(EFHC1)

NVS:	122909109(EFHC1)

ORO:	101376945(EFHC1)

EJU:	114204396(EFHC1)

ZCA:	113926475(EFHC1)

MLX:	118000938(EFHC1)

NSU:	110582125(EFHC1)

LWW:	102739055(EFHC1)

FCA:	101084030(EFHC1)

PYU:	121029578(EFHC1)

PCOO:

112862389(EFHC1)

PBG:	122489621(EFHC1)

PVIV:

125165182(EFHC1)

LRUF:

124528787

PTG:	102957554(EFHC1)

PPAD:

109271747(EFHC1)

PUC:

125938566

AJU:

106973062

HHV:	120220394(EFHC1)

BTA:	510124(EFHC1)

BOM:	102272570(EFHC1)

BIU:	109577395(EFHC1)

BBUB:

102396157(EFHC1)

BBIS:

105005142(EFHC1)

CHX:	102172217(EFHC1)

OAS:	101105193(EFHC1)

BTAX:

128056526(EFHC1)

ODA:	120870004(EFHC1)

CCAD:

122429921(EFHC1)

MBEZ:

129543876(EFHC1)

SSC:	100152550(EFHC1)

CFR:	102519235(EFHC1)

CBAI:

105083929(EFHC1)

CDK:	105099530(EFHC1)

VPC:	102528544(EFHC1)

BACU:

103003374(EFHC1)

BMUS:

118904447(EFHC1)

LVE:	103084401(EFHC1)

OOR:	101273446(EFHC1)

DLE:	111178913(EFHC1)

PCAD:

102987982(EFHC1)

PSIU:

116761589(EFHC1)

NASI:

112414065(EFHC1)

ECB:	100069174(EFHC1)

EPZ:	103557997(EFHC1)

EAI:	106827040(EFHC1)

MYB:	102252890(EFHC1)

MYD:	102756967(EFHC1)

MMYO:

118660006(EFHC1)

MLF:	102429308(EFHC1)

PKL:	118706095(EFHC1)

EFUS:

103300627(EFHC1)

MNA:	107534659(EFHC1)

DRO:	112302201(EFHC1)

SHON:

118992817(EFHC1)

AJM:	119059752(EFHC1)

PDIC:

114494554(EFHC1)

PHAS:

123821906(EFHC1)

MMF:	118621918(EFHC1)

PPAM:

129067090(EFHC1)

HAI:	109391312(EFHC1)

RFQ:	117020535(EFHC1)

PALE:

102897742(EFHC1)

PGIG:

120595057(EFHC1)

PVP:	105304794(EFHC1)

RAY:	107502424(EFHC1)

MJV:	108394476(EFHC1) 108405669

TOD:	119252557(EFHC1)

SARA:

101546273(EFHC1)

SETR:

125996276(EFHC1)

LAV:	100671896(EFHC1)

TMU:

101359239

ETF:	101642706(EFHC1)

DNM:	101421853(EFHC1)

MDO:	100016656(EFHC1)

GAS:	123244782(EFHC1)

SHR:	100925794(EFHC1)

AFZ:

127561850

PCW:	110213595(EFHC1)

OAA:	100079150(EFHC1)

GGA:	422041(EFHC1)

PCOC:

116235578(EFHC1)

MGP:	100547670(EFHC1)

CJO:	107312399(EFHC1)

TPAI:

128085134(EFHC1)

LMUT:

125688824(EFHC1)

NMEL:

110395813(EFHC1)

APLA:

101797150 119716326(EFHC1)

ACYG:

106038115(EFHC1)

CATA:

118256525(EFHC1)

AFUL:

116488336(EFHC1)

TGU:	100222292(EFHC1)

LSR:	110481223(EFHC1)

SCAN:

103821253(EFHC1)

PMOA:

120495989(EFHC1)

OTC:	121347472(EFHC1)

PRUF:

121360773(EFHC1)

GFR:	102044915(EFHC1)

FAB:	101812694(EFHC1)

OMA:	130251027(EFHC1)

PHI:	102101664(EFHC1)

PMAJ:

107201145(EFHC1)

CCAE:

111927393(EFHC1)

CCW:	104685476(EFHC1)

CBRC:

103622893(EFHC1)

ETL:	114069916(EFHC1)

ZAB:	102067860(EFHC1)

ACHL:

103800209(EFHC1)

SVG:	106851150(EFHC1)

MMEA:

130583084(EFHC1)

HRT:	120750059(EFHC1)

FPG:	101923129(EFHC1)

FCH:	102059704(EFHC1)

CLV:	102089487(EFHC1)

EGZ:	104131439(EFHC1)

NNI:	104014683(EFHC1)

PCRI:

104032235(EFHC1)

PLET:

104620610(EFHC1)

EHS:	104511805(EFHC1)

PCAO:

104046009(EFHC1)

ACUN:

113478764(EFHC1)

TALA:

104360582(EFHC1)

PADL:

103913269(EFHC1)

AFOR:

103906895(EFHC1)

ACHC:

115351184(EFHC1)

HALD:

104315634(EFHC1)

HLE:	104841443(EFHC1)

AGEN:

126046310

GCL:

127014938

CCRI:

104161636(EFHC1)

CSTI:

104562025(EFHC1)

CMAC:

104482899(EFHC1)

MUI:	104541823(EFHC1)

BREG:

104629915(EFHC1)

FGA:	104074279(EFHC1)

GSTE:

104261296(EFHC1)

LDI:	104344709(EFHC1)

MNB:	103767868(EFHC1)

OHA:	104338354(EFHC1)

NNT:	104399122(EFHC1)

SHAB:

115609705(EFHC1)

DPUB:

104303051(EFHC1)

PGUU:

104471123(EFHC1)

ACAR:

104530647(EFHC1)

CPEA:

104395195(EFHC1)

AVIT:

104267345(EFHC1)

CVF:	104289945(EFHC1)

RTD:	128907597(EFHC1)

CUCA:

104065694(EFHC1)

TEO:	104377819(EFHC1)

BRHI:

104497149(EFHC1)

AAM:	106500524(EFHC1)

AROW:

112965178(EFHC1)

NPD:	112949089(EFHC1)

TGT:	104576094(EFHC1)

DNE:	112979561(EFHC1)

SCAM:

104145380(EFHC1)

ASN:	102379866(EFHC1)

AMJ:	102566468(EFHC1)

CPOO:

109312055(EFHC1)

GGN:	109300259(EFHC1)

PSS:	102463441(EFHC1)

CMY:	102932439(EFHC1)

CCAY:

125634683(EFHC1)

DCC:	119853795(EFHC1)

CPIC:

101932384(EFHC1)

TST:	117875392(EFHC1)

CABI:

116834527(EFHC1)

MRV:	120401192(EFHC1)

ACS:	100557931(efhc1)

ASAO:

132780885(EFHC1)

PVT:	110077504(EFHC1)

SUND:

121923272(EFHC1)

PBI:	103060379(EFHC1)

PMUR:

107285561(EFHC1)

CTIG:

120300427(EFHC1)

TSR:	106539227(EFHC1)

PGUT:

117674481(EFHC1)

APRI:

131198340(EFHC1)

PTEX:

113444250(PAQR8)

NSS:	113421901(PAQR8)

VKO:	123017569(EFHC1)

PMUA:

114593268 114593528

PRAF:

128409888(EFHC1)

ZVI:	118082636(EFHC1)

HCG:	128339769(EFHC1)

GJA:	107114227(EFHC1)

STOW:

125436205(EFHC1)

EMC:	129334987(EFHC1)

XLA:	444838(efhc1.L)

XTR:	493468(efhc1)

NPR:	108791192(EFHC1)

RTEM:

120936182(EFHC1)

BBUF:

120997207(EFHC1)

BGAR:

122944544(EFHC1)

MUO:	115467055(EFHC1)

GSH:	117357877(EFHC1)

DRE:	393942(efhc1)

SRX:	107719433 107721439

SANH:

107691013 107697121

SGH:	107575367 107593305

CAUA:

113075081(efhc1)

CGIB:

127939022

PTET:

122324613(efhc1)

LROH:

127182945(efhc1)

OMC:	131527033(efhc1)

PPRM:

120480924(efhc1)

RKG:	130103236(efhc1)

MAMB:

125278524(efhc1)

CIDE:

127502395

MASI:

127409656

TROS:

130565972(efhc1)

TDW:	130434259(efhc1)

MANU:

129429498(efhc1)

IPU:

108257659

IFU:	128618932(efhc1)

PHYP:

113529096

SMEO:

124401215(efhc1)

TFD:	113658598(efhc1)

TVC:	132855117(efhc1)

AMEX:

103021369(efhc1)

CMAO:

118815185(efhc1)

EEE:	113592007(efhc1)

CHAR:

105907322(efhc1)

TRU:	101074513 115253013

TFS:	130516224(efhc1) 130516226

TNG:	GSTEN00023127G001

LCO:	104927039(efhc1)

NCC:	104943057(efhc1)

TBEN:

117493214(efhc1)

CGOB:

115003779(efhc1)

PGEO:

117440103(efhc1)

GACU:

117556104(efhc1)

EMAC:

134876933(efhc1)

ELY:	117271241(efhc1)

EFO:	125896916(efhc1)

PLEP:

121955519(efhc1)

SLUC:

116044439 116066080(efhc1)

ECRA:

117939606

ESP:	116674138(efhc1)

PFLV:

114550843 114572927

GAT:	120808529(efhc1)

PPUG:

119195187(efhc1)

AFB:	129107423(efhc1)

CLUM:

117727520(efhc1)

PSWI:

130202660(efhc1)

MSAM:

119908770(efhc1)

SCHU:

122863413(efhc1)

CUD:	121521853(efhc1)

ALAT:

119012288(efhc1)

MZE:	101476689(efhc1)

ONL:	100703304(efhc1)

OAU:	116324188(efhc1)

OLA:	101173758(efhc1)

OML:	112158526(efhc1)

CSAI:

133418417(efhc1)

XMA:	102229235(efhc1)

XCO:	114158274(efhc1)

XHE:	116733727(efhc1)

PRET:

103457467(efhc1)

PFOR:

103134399(efhc1)

PLAI:

106957044(efhc1)

PMEI:

106920682(efhc1)

GAF:	122825801(efhc1)

PPRL:

129375385(efhc1)

CVG:	107081200(efhc1)

CTUL:

119779130(efhc1)

GMU:	124881595(efhc1)

NFU:	107377640(efhc1)

KMR:	108233428(efhc1)

NWH:	119418256(efhc1)

AOCE:

111585468(efhc1)

MCEP:

124999162(efhc1)

CSEM:

103380964 103380965

POV:	109635985 109636018(efhc1) 109637221

SSEN:

122778909 122783744 122783959

HHIP:

117758262 117758595

HSP:	118099112 118099113(efhc1)

SMAU:

118290411(efhc1)

LCF:

108883105

SDU:	111237487(efhc1)

SLAL:

111661466(efhc1)

XGL:	120789460(efhc1)

HCQ:	109530996(efhc1)

SSCV:

125990566

SBIA:

133496230(efhc1)

PEE:	133416879(efhc1)

PTAO:

133468739(efhc1)

BPEC:

110154900(efhc1) 110157800

MALB:

109953003(efhc1)

BSPL:

114849447(efhc1)

SJO:	128376847(efhc1)

SASA:

106571158(efhc1)

STRU:

115175066(efhc1)

OTW:	112251691(efhc1)

OMY:	110529361(efhc1)

OGO:	123991561(efhc1)

ONE:	115123573(efhc1)

OKI:	109900532(efhc1)

OKE:	118374267(efhc1)

SALP:

111954175(efhc1)

SNH:	120024240(efhc1)

CCLU:

121552388(efhc1)

ELS:	105021689(efhc1)

SFM:	108924046(efhc1)

PKI:

111841299

AANG:

118229881(efhc1)

LOC:	102698796(efhc1)

PSPA:

121317147(efhc1)

ARUT:

117410855(efhc1)

PSEX:

120526650(efhc1)

LCM:	102350421(EFHC1)

HOC:	132819264(efhc1)

LERI:

129694271(efhc1)

PMRN:

116955667(EFHC1)

LRJ:

BFO:

BBEL:

CIN:

SCLV:

SPU:	378944(rib74)

LPIC:

APLC:

AJC:

SKO:

CLON:

HIS:

ACOZ:

AARA:

AMER:

ASTE:

AFUN:

AMOU:

AALI:

AAG:

AALB:

CQU:	CpipJ_CPIJ015374

CPII:

CNS:

BCOO:

AME:

ACER:

ALAB:

ADR:

AFLR:

BIM:

BBIF:

BVK:

BVAN:

BTER:

BAFF:

BPYO:

BPAS:

FVI:

CCAL:

OBB:

OLG:

MGEN:

NMEA:

CGIG:

SOC:

MPHA:

AEC:

ACEP:

PBAR:

VEM:

HST:

DQU:

CFO:

FEX:

LHU:

PGC:

OBO:	105286196 113562811

PCF:

PFUC:

VPS:

VCRB:

VVE:

NVI:

CSOL:

TPRE:

LBD:

MDL:

CGLO:

DAM:

AGIF:

VCAN:

CCIN:

DSM:

NPT:

NFB:

NLO:

NVG:

AROA:

TCA:

DPA:

SOY:	115883129 115889493

AGRG:

ATD:

CSET:

AGB:

LDC:

NVL:

APLN:

PPYR:

OTU:

BMOR:

BMAN:

MSEX:

DPL:	KGM_208656

BANY:

MJU:

VCD:

MCIX:

PMAC:

PPOT:

PXU:

PRAP:

PBX:

PNAP:

ZCE:

CCRC:

LSIN:

AAGE:

HAW:

HZE:

TNL:

SLIU:

PXY:	105388336 105388585

PGW:

126382287

CCRN:

123292561 123292563

API:	100167091 100169344

DNX:

107161815

AGS:	114128083 114129964

RMD:	113554067 113558017

ACOO:

DVT:

BTAB:

DCI:

CLEC:

HHAL:

NLU:

MQU:

PHU:	Phum_PHUM489290

FOC:

TPAL:

ZNE:

CSEC:

SGRE:

BROR:

IEL:

FCD:

DPX:	DAPPUDRAFT_228400

DMK:

PJA:

HAME:

PCLA:

CQD:

PTRU:

ESN:

MNZ:

HAZT:

EAF:

LSM:

TCF:

PPOI:

DSV:

RSAN:

RMP:

CSCU:

PTEP:

ABRU:

UDV:

SDM:	118181924 118194727

LPOL:

106468188

PMEO:

129600889

BMY:	BM_BM6690(Bma-efhc-1)

LOA:	LOAG_16528

HRO:	HELRODRAFT_102301 HELRODRAFT_65269

LGI:	LOTGIDRAFT_195429

PVUL:

PCAN:

BGT:

GAE:

HRF:

HRJ:

CRG:

CANU:

OED:

MYI:

PMAX:

MCAF:

MMER:

RPHI:

DPOL:

OBI:

OSN:

LAK:	106153666 106177703

SMM:	Smp_159160

SHX:	MS3_00002125(EFHC1)

OVI:	T265_04467

EGL:

NVE:

EPA:

ATEN:

ADF:	107354284 107358563

AMIL:

PDAM:

SPIS:

DGT:

XEN:

HMG:

HSY:

TAD:	TRIADDRAFT_38534

AQU:	100632917 105312466

SMO:	SELMODRAFT_136421 SELMODRAFT_450319(RIB72)

CRE:	CHLRE_02g091700v5 CHLRE_14g611250v5

VCN:	VOLCADRAFT_107251 VOLCADRAFT_79034

MNG:	MNEG_2798 MNEG_9263

CSL:	COCSUDRAFT_17258

CVR:	CHLNCDRAFT_25920

APRO:

F751_7013

OLU:	OSTLU_27168 OSTLU_36578

OTA:	OT_ostta13g01970

BPG:	Bathy17g01240

MIS:	MICPUN_54679 MICPUN_63877 MICPUN_96444(RIB72)

MPP:	MICPUCDRAFT_29887(JGI:MicpuC2_29887) MICPUCDRAFT_33490(RIB72) MICPUCDRAFT_52431(JGI:MicpuC2_52431)

MBR:	MONBRDRAFT_33364

SRE:	PTSG_07611

TGO:	TGME49_256020 TGME49_272360

TET:	TTHERM_00584850

PTM:	GSPATT00017169001 GSPATT00018545001 GSPATT00023909001 GSPATT00024758001 GSPATT00028589001 GSPATT00029335001 GSPATT00029588001 GSPATT00031232001 GSPATT00033684001 GSPATT00034140001 GSPATT00036875001 GSPATT00038655001

SMIN:

v1.2.027577.t1(symbB.v1.2.027577.t1) v1.2.031437.t1(symbB.v1.2.031437.t1) v1.2.031438.t1(symbB.v1.2.031438.t1) v1.2.037006.t1(symbB.v1.2.037006.t1) v1.2.038653.t1(symbB.v1.2.038653.t1)

AAF:	AURANDRAFT_65465

PIF:	PITG_04513 PITG_05535

PSOJ:

PHYSODRAFT_481494

SPAR:

SPRG_07173

EHX:	EMIHUDRAFT_63547 EMIHUDRAFT_77040

GTT:	GUITHDRAFT_160897 GUITHDRAFT_46071 GUITHDRAFT_52356 GUITHDRAFT_92634 GUITHDRAFT_99798

TVA:	TVAG_2v0388090 TVAG_2v0544180 TVAG_2v1041490

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Reference

PMID:15258581

Authors

Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K

Title

Mutations in EFHC1 cause juvenile myoclonic epilepsy.

Journal

Nat Genet 36:842-9 (2004)
DOI:10.1038/ng1393

Sequence

[hsa:114327]

LinkDB

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