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Protein

EF-hand domain-containing protein 1

Gene

EFHC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).4 Publications

GO - Molecular functioni

  • alpha-tubulin binding Source: UniProtKB
  • calcium ion binding Source: InterPro
  • protein C-terminus binding Source: UniProtKB

GO - Biological processi

  • cerebral cortex cell migration Source: UniProtKB
  • mitotic cytokinesis Source: UniProtKB
  • mitotic spindle organization Source: UniProtKB
  • regulation of cell division Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand domain-containing protein 1
Alternative name(s):
Myoclonin-1
Gene namesi
Name:EFHC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000096093.14
HGNCiHGNC:16406 EFHC1
MIMi608815 gene
neXtProtiNX_Q5JVL4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Juvenile myoclonic epilepsy 1 (EJM1)6 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
See also OMIM:254770
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02361977P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 PublicationCorresponds to variant dbSNP:rs149055334EnsemblClinVar.1
Natural variantiVAR_07977289H → R in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs543160745EnsemblClinVar.1
Natural variantiVAR_072108118R → C in EJM1. 1 PublicationCorresponds to variant dbSNP:rs764096785Ensembl.1
Natural variantiVAR_072109153R → Q in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745600475Ensembl.1
Natural variantiVAR_072110182R → C in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200191497EnsemblClinVar.1
Natural variantiVAR_023622210D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852777EnsemblClinVar.1
Natural variantiVAR_023623221R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs79761183EnsemblClinVar.1
Natural variantiVAR_023624229F → L in EJM1; uncertain pathological significance; also found at homozygosity in neonatal intractable epilepsy; reduces substantially the cell death effect; reduces significantly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 6 PublicationsCorresponds to variant dbSNP:rs137852776EnsemblClinVar.1
Natural variantiVAR_023625253D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852778EnsemblClinVar.1
Natural variantiVAR_079774322E → K in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_043157353R → W in EJM1; no effect on protein expression; no effect on the spindle pole localization; defective mitotic spindle organization; defective cytokinesis. 2 PublicationsCorresponds to variant dbSNP:rs527295360EnsemblClinVar.1
Natural variantiVAR_079775355Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs767833659Ensembl.1
Natural variantiVAR_079776372R → W in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs371151471EnsemblClinVar.1
Natural variantiVAR_079777378K → E in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_079778436R → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs377286138EnsemblClinVar.1
Natural variantiVAR_079779485Y → H in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs779322943Ensembl.1
Natural variantiVAR_079780519N → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs527539103Ensembl.1
Natural variantiVAR_079781556V → L in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs772265107Ensembl.1
Natural variantiVAR_079782619I → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs142458862EnsemblClinVar.1
Natural variantiVAR_079783631Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs574948354EnsemblClinVar.1
Juvenile absence epilepsy 1 (JAE1)1 Publication1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
See also OMIM:607631
Mutation Leu-229 may be a cause of intractable epilepsy of infancy. Affected individuals have seizures of multiple type, manifested as tonic, clonic, and myoclonic seizures in the neonatal period, and as tonic seizures activated frequently by sleep, and repeated frequent myoclonic seizures in later infancy. The seizures are unresponsive to numerous antiepileptic drugs, and infants die in the first years of life. Although heterozygosity for Leu-229 has been associated with relatively benign forms of epilepsy in adolescence, homozygosity for the same mutation has much more severe consequences.1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi114327
MalaCardsiEFHC1
MIMi254770 phenotype
607631 phenotype
OpenTargetsiENSG00000096093
Orphaneti1941 Juvenile absence epilepsy
307 Juvenile myoclonic epilepsy
PharmGKBiPA27654

Polymorphism and mutation databases

BioMutaiEFHC1
DMDMi74762202

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000738771 – 640EF-hand domain-containing protein 1Add BLAST640

Proteomic databases

EPDiQ5JVL4
MaxQBiQ5JVL4
PaxDbiQ5JVL4
PeptideAtlasiQ5JVL4
PRIDEiQ5JVL4
ProteomicsDBi63338
63339 [Q5JVL4-2]

PTM databases

iPTMnetiQ5JVL4
PhosphoSitePlusiQ5JVL4

Expressioni

Tissue specificityi

Widely expressed. Not detected in lymphocytes.1 Publication

Gene expression databases

BgeeiENSG00000096093
CleanExiHS_EFHC1
ExpressionAtlasiQ5JVL4 baseline and differential
GenevisibleiQ5JVL4 HS

Organism-specific databases

HPAiHPA035307

Interactioni

Subunit structurei

Interacts with the C-terminus of CACNA1E (PubMed:15258581). Interacts with alpha-tubulin (PubMed:19734894).2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • alpha-tubulin binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi125313, 15 interactors
IntActiQ5JVL4, 67 interactors
STRINGi9606.ENSP00000360107

Structurei

3D structure databases

ProteinModelPortaliQ5JVL4
SMRiQ5JVL4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini93 – 198DM10 1PROSITE-ProRule annotationAdd BLAST106
Domaini239 – 359DM10 2PROSITE-ProRule annotationAdd BLAST121
Domaini416 – 520DM10 3PROSITE-ProRule annotationAdd BLAST105
Domaini574 – 609EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 45Required for its localization in the mitotic spindle and interaction with alpha-tubulin1 PublicationAdd BLAST45

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0043 Eukaryota
ENOG410XQCQ LUCA
GeneTreeiENSGT00530000063528
HOGENOMiHOG000265451
HOVERGENiHBG059646
InParanoidiQ5JVL4
OrthoDBiEOG091G063X
PhylomeDBiQ5JVL4
TreeFamiTF314504

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR010554 DUF1126
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR006602 Uncharacterised_DM10
PfamiView protein in Pfam
PF06565 DUF1126, 3 hits
SMARTiView protein in SMART
SM00676 DM10, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS51336 DM10, 3 hits
PS50222 EF_HAND_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5JVL4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVSNPVHGLP FLPGTSFKDS TKTAFHRSQT LSYRNGYAIV RRPTVGIGGD
60 70 80 90 100
RLQFNQLSQA ELDELASKAP VLTYGQPKQA PPADFIPAHV AFDKKVLKFD
110 120 130 140 150
AYFQEDVPMS TEEQYRIRQV NIYYYLEDDS MSVIEPVVEN SGILQGKLIK
160 170 180 190 200
RQRLAKNDRG DHYHWKDLNR GINITIYGKT FRVVDCDQFT QVFLESQGIE
210 220 230 240 250
LNPPEKMALD PYTELRKQPL RKYVTPSDFD QLKQFLTFDK QVLRFYAIWD
260 270 280 290 300
DTDSMYGECR TYIIHYYLMD DTVEIREVHE RNDGRDPFPL LMNRQRVPKV
310 320 330 340 350
LVENAKNFPQ CVLEISDQEV LEWYTAKDFI VGKSLTILGR TFFIYDCDPF
360 370 380 390 400
TRRYYKEKFG ITDLPRIDVS KREPPPVKQE LPPYNGFGLV EDSAQNCFAL
410 420 430 440 450
IPKAPKKDVI KMLVNDNKVL RYLAVLESPI PEDKDRRFVF SYFLATDMIS
460 470 480 490 500
IFEPPVRNSG IIGGKYLGRT KVVKPYSTVD NPVYYGPSDF FIGAVIEVFG
510 520 530 540 550
HRFIILDTDE YVLKYMESNA AQYSPEALAS IQNHVRKREA PAPEAESKQT
560 570 580 590 600
EKDPGVQELE ALIDTIQKQL KDHSCKDNIR EAFQIYDKEA SGYVDRDMFF
610 620 630 640
KICESLNVPV DDSLVKELIR MCSHGEGKIN YYNFVRAFSN
Length:640
Mass (Da):73,990
Last modified:February 15, 2005 - v1
Checksum:i08F9E8BFEC42FCF3
GO
Isoform 2 (identifier: Q5JVL4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     243-278: LRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREV → SDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETLQL
     279-640: Missing.

Note: May be due to intron retention.
Show »
Length:278
Mass (Da):31,661
Checksum:i806C5C56F5E294F9
GO
Isoform 3 (identifier: Q5JVL4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MVSNPVHGLPFLPGTSFKDST → ML

Note: No experimental confirmation available.
Show »
Length:621
Mass (Da):72,021
Checksum:iC289DD7386FF510B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti140N → D in BAG60005 (PubMed:14702039).Curated1
Sequence conflicti399A → T in BAA91628 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02361977P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 PublicationCorresponds to variant dbSNP:rs149055334EnsemblClinVar.1
Natural variantiVAR_07977289H → R in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs543160745EnsemblClinVar.1
Natural variantiVAR_072108118R → C in EJM1. 1 PublicationCorresponds to variant dbSNP:rs764096785Ensembl.1
Natural variantiVAR_072109153R → Q in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745600475Ensembl.1
Natural variantiVAR_023620159R → W Polymorphism; no effect on cell death; binds to CACNA1E as the wild type protein; does not affect subcellular location. 4 PublicationsCorresponds to variant dbSNP:rs3804506EnsemblClinVar.1
Natural variantiVAR_043154174I → V Associated with susceptibility to JAE1. 1 PublicationCorresponds to variant dbSNP:rs137852779EnsemblClinVar.1
Natural variantiVAR_072110182R → C in EJM1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200191497EnsemblClinVar.1
Natural variantiVAR_023621182R → H Likely benign polymorphism; no effect on cell death; binds to CACNA1E. 4 PublicationsCorresponds to variant dbSNP:rs3804505EnsemblClinVar.1
Natural variantiVAR_023622210D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852777EnsemblClinVar.1
Natural variantiVAR_079773221R → C Polymorphism. 1 PublicationCorresponds to variant dbSNP:rs139197513EnsemblClinVar.1
Natural variantiVAR_023623221R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs79761183EnsemblClinVar.1
Natural variantiVAR_023624229F → L in EJM1; uncertain pathological significance; also found at homozygosity in neonatal intractable epilepsy; reduces substantially the cell death effect; reduces significantly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 6 PublicationsCorresponds to variant dbSNP:rs137852776EnsemblClinVar.1
Natural variantiVAR_023625253D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; normally binds to CACNA1E; does not affect subcellular location; results in impaired cell migration. 2 PublicationsCorresponds to variant dbSNP:rs137852778EnsemblClinVar.1
Natural variantiVAR_043155259C → Y Associated with susceptibility to JAE1. 1 PublicationCorresponds to variant dbSNP:rs137852780EnsemblClinVar.1
Natural variantiVAR_026531285R → I1 PublicationCorresponds to variant dbSNP:rs17851771Ensembl.1
Natural variantiVAR_043156294R → H2 PublicationsCorresponds to variant dbSNP:rs1570624EnsemblClinVar.1
Natural variantiVAR_079774322E → K in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_043157353R → W in EJM1; no effect on protein expression; no effect on the spindle pole localization; defective mitotic spindle organization; defective cytokinesis. 2 PublicationsCorresponds to variant dbSNP:rs527295360EnsemblClinVar.1
Natural variantiVAR_079775355Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs767833659Ensembl.1
Natural variantiVAR_048666357E → K. Corresponds to variant dbSNP:rs505760EnsemblClinVar.1
Natural variantiVAR_079776372R → W in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs371151471EnsemblClinVar.1
Natural variantiVAR_079777378K → E in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 Publication1
Natural variantiVAR_043158394A → S in a sporadic case of unclassified epilepsy. 1 Publication1
Natural variantiVAR_079778436R → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs377286138EnsemblClinVar.1
Natural variantiVAR_043159448M → T2 PublicationsCorresponds to variant dbSNP:rs1266787EnsemblClinVar.1
Natural variantiVAR_079779485Y → H in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs779322943Ensembl.1
Natural variantiVAR_079780519N → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs527539103Ensembl.1
Natural variantiVAR_079781556V → L in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs772265107Ensembl.1
Natural variantiVAR_023626619I → L Polymorphism; no effect on cell death; normally binds to CACNA1E; does not affect subcellular location. 4 PublicationsCorresponds to variant dbSNP:rs17851770EnsemblClinVar.1
Natural variantiVAR_079782619I → S in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs142458862EnsemblClinVar.1
Natural variantiVAR_079783631Y → C in EJM1; no effect on protein expression; defective mitotic spindle organization; defective cytokinesis. 1 PublicationCorresponds to variant dbSNP:rs574948354EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0461071 – 21MVSNP…FKDST → ML in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_015894243 – 278LRFYA…EIREV → SDIGTTIGLLISKCDLHLLA KGLGSCIGNYFETLQL in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_015895279 – 640Missing in isoform 2. 1 PublicationAdd BLAST362

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY608689 mRNA Translation: AAT67418.1
AY608690 mRNA Translation: AAT67419.1
AK001328 mRNA Translation: BAA91628.1
AK297632 mRNA Translation: BAG60005.1
AL049611 Genomic DNA No translation available.
AL136125 Genomic DNA No translation available.
BC020210 mRNA Translation: AAH20210.1
CCDSiCCDS4942.1 [Q5JVL4-1]
CCDS55021.1 [Q5JVL4-3]
RefSeqiNP_001165891.1, NM_001172420.1 [Q5JVL4-3]
NP_060570.2, NM_018100.3 [Q5JVL4-1]
UniGeneiHs.403171

Genome annotation databases

EnsembliENST00000371068; ENSP00000360107; ENSG00000096093 [Q5JVL4-1]
ENST00000538167; ENSP00000444521; ENSG00000096093 [Q5JVL4-3]
ENST00000636489; ENSP00000489998; ENSG00000096093 [Q5JVL4-3]
ENST00000636954; ENSP00000489966; ENSG00000096093 [Q5JVL4-3]
GeneIDi114327
KEGGihsa:114327
UCSCiuc003pap.5 human [Q5JVL4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEFHC1_HUMAN
AccessioniPrimary (citable) accession number: Q5JVL4
Secondary accession number(s): B4DMU3
, F5GZD8, Q5XKM4, Q6E1U7, Q6E1U8, Q8WUL2, Q9NVW6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: February 15, 2005
Last modified: July 18, 2018
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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