Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q5JVL4 (EFHC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
EF-hand domain-containing protein 1
Alternative name(s):
Myoclonin-1
Gene names
Name:EFHC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length640 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May enhance calcium influx through CACNA1E and stimulate programmed cell death. Ref.1

Subunit structure

Interacts with the C-terminus of CACNA1E. Ref.1

Tissue specificity

Widely expressed. Not detected in lymphocytes. Ref.1

Involvement in disease

Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.1 Ref.6

Juvenile absence epilepsy 1 (JAE1) [MIM:607631]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Sequence similarities

Contains 3 DM10 domains.

Contains 1 EF-hand domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5JVL4-1)

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.
Isoform 2 (identifier: Q5JVL4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     243-278: LRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREV → SDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETLQL
     279-640: Missing.
Isoform 3 (identifier: Q5JVL4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MVSNPVHGLPFLPGTSFKDST → ML
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 640640EF-hand domain-containing protein 1
PRO_0000073877

Regions

Domain93 – 198106DM10 1
Domain239 – 359121DM10 2
Domain416 – 520105DM10 3
Domain574 – 60936EF-hand

Natural variations

Alternative sequence1 – 2121MVSNP…FKDST → ML in isoform 3.
VSP_046107
Alternative sequence243 – 27836LRFYA…EIREV → SDIGTTIGLLISKCDLHLLA KGLGSCIGNYFETLQL in isoform 2.
VSP_015894
Alternative sequence279 – 640362Missing in isoform 2.
VSP_015895
Natural variant771P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1
Corresponds to variant rs149055334 [ dbSNP | Ensembl ].
VAR_023619
Natural variant1591R → W No effect on cell death; binds to CACNA1E. Ref.1 Ref.5
Corresponds to variant rs3804506 [ dbSNP | Ensembl ].
VAR_023620
Natural variant1741I → V Associated with susceptibility to JAE1. Ref.5
VAR_043154
Natural variant1821R → H No effect on cell death; binds to CACNA1E. Ref.1 Ref.5 Ref.6
Corresponds to variant rs3804505 [ dbSNP | Ensembl ].
VAR_023621
Natural variant2101D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1
VAR_023622
Natural variant2211R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1
Corresponds to variant rs79761183 [ dbSNP | Ensembl ].
VAR_023623
Natural variant2291F → L in EJM1; uncertain pathological significance; reduces substantially the cell death effect; reduces significantly the calcium influx; binds to CACNA1E. Ref.1 Ref.5 Ref.6
Corresponds to variant rs137852776 [ dbSNP | Ensembl ].
VAR_023624
Natural variant2531D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1
VAR_023625
Natural variant2591C → Y Associated with susceptibility to JAE1. Ref.5
VAR_043155
Natural variant2851R → I. Ref.4
Corresponds to variant rs17851771 [ dbSNP | Ensembl ].
VAR_026531
Natural variant2941R → H. Ref.5
Corresponds to variant rs1570624 [ dbSNP | Ensembl ].
VAR_043156
Natural variant3531R → W in EJM1. Ref.6
VAR_043157
Natural variant3571E → K.
Corresponds to variant rs505760 [ dbSNP | Ensembl ].
VAR_048666
Natural variant3941A → S in a sporadic case of unclassified epilepsy.
VAR_043158
Natural variant4481M → T. Ref.5
Corresponds to variant rs1266787 [ dbSNP | Ensembl ].
VAR_043159
Natural variant6191I → L No effect on cell death; binds to CACNA1E. Ref.1 Ref.4
Corresponds to variant rs17851770 [ dbSNP | Ensembl ].
VAR_023626

Experimental info

Sequence conflict1401N → D in BAG60005. Ref.2
Sequence conflict3991A → T in BAA91628. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 15, 2005. Version 1.
Checksum: 08F9E8BFEC42FCF3

FASTA64073,990
        10         20         30         40         50         60 
MVSNPVHGLP FLPGTSFKDS TKTAFHRSQT LSYRNGYAIV RRPTVGIGGD RLQFNQLSQA 

        70         80         90        100        110        120 
ELDELASKAP VLTYGQPKQA PPADFIPAHV AFDKKVLKFD AYFQEDVPMS TEEQYRIRQV 

       130        140        150        160        170        180 
NIYYYLEDDS MSVIEPVVEN SGILQGKLIK RQRLAKNDRG DHYHWKDLNR GINITIYGKT 

       190        200        210        220        230        240 
FRVVDCDQFT QVFLESQGIE LNPPEKMALD PYTELRKQPL RKYVTPSDFD QLKQFLTFDK 

       250        260        270        280        290        300 
QVLRFYAIWD DTDSMYGECR TYIIHYYLMD DTVEIREVHE RNDGRDPFPL LMNRQRVPKV 

       310        320        330        340        350        360 
LVENAKNFPQ CVLEISDQEV LEWYTAKDFI VGKSLTILGR TFFIYDCDPF TRRYYKEKFG 

       370        380        390        400        410        420 
ITDLPRIDVS KREPPPVKQE LPPYNGFGLV EDSAQNCFAL IPKAPKKDVI KMLVNDNKVL 

       430        440        450        460        470        480 
RYLAVLESPI PEDKDRRFVF SYFLATDMIS IFEPPVRNSG IIGGKYLGRT KVVKPYSTVD 

       490        500        510        520        530        540 
NPVYYGPSDF FIGAVIEVFG HRFIILDTDE YVLKYMESNA AQYSPEALAS IQNHVRKREA 

       550        560        570        580        590        600 
PAPEAESKQT EKDPGVQELE ALIDTIQKQL KDHSCKDNIR EAFQIYDKEA SGYVDRDMFF 

       610        620        630        640 
KICESLNVPV DDSLVKELIR MCSHGEGKIN YYNFVRAFSN 

« Hide

Isoform 2 [UniParc].

Checksum: 806C5C56F5E294F9
Show »

FASTA27831,661
Isoform 3 [UniParc].

Checksum: C289DD7386FF510B
Show »

FASTA62172,021

References

« Hide 'large scale' references
[1]"Mutations in EFHC1 cause juvenile myoclonic epilepsy."
Suzuki T., Delgado-Escueta A.V., Aguan K., Alonso M.E., Shi J., Hara Y., Nishida M., Numata T., Medina M.T., Takeuchi T., Morita R., Bai D., Ganesh S., Sugimoto Y., Inazawa J., Bailey J.N., Ochoa A., Jara-Prado A. expand/collapse author list , Rasmussen A., Ramos-Peek J., Cordova S., Rubio-Donnadieu F., Inoue Y., Osawa M., Kaneko S., Oguni H., Mori Y., Yamakawa K.
Nat. Genet. 36:842-849(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 557-640 (ISOFORM 1), FUNCTION, INTERACTION WITH CACNA1E, TISSUE SPECIFICITY, VARIANTS EJM1 THR-77; ASN-210; HIS-221; LEU-229 AND TYR-253, CHARACTERIZATION OF VARIANTS EJM1 THR-77; ASN-210; HIS-221; LEU-229 AND TYR-253, VARIANTS TRP-159; HIS-182 AND LEU-619, CHARACTERIZATION OF VARIANTS TRP-159; HIS-182 AND LEU-619.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Brain.
[3]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ILE-285 AND LEU-619.
Tissue: Kidney.
[5]"Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations."
Stogmann E., Lichtner P., Baumgartner C., Bonelli S., Assem-Hilger E., Leutmezer F., Schmied M., Hotzy C., Strom T.M., Meitinger T., Zimprich F., Zimprich A.
Neurology 67:2029-2031(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO JUVENILE ABSENCE EPILEPSY, VARIANTS TRP-159; VAL-174; HIS-182; LEU-229; TYR-259; HIS-294; SER-394 AND THR-448.
[6]"Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy."
Annesi F., Gambardella A., Michelucci R., Bianchi A., Marini C., Canevini M.P., Capovilla G., Elia M., Buti D., Chifari R., Striano P., Rocca F.E., Castellotti B., Cali F., Labate A., Lepiane E., Besana D., Sofia V. expand/collapse author list , Tabiadon G., Tortorella G., Vigliano P., Vignoli A., Beccaria F., Annesi G., Striano S., Aguglia U., Guerrini R., Quattrone A.
Epilepsia 48:1686-1690(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EJM1 LEU-229 AND TRP-353, VARIANT HIS-182.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY608689 mRNA. Translation: AAT67418.1.
AY608690 mRNA. Translation: AAT67419.1.
AK001328 mRNA. Translation: BAA91628.1.
AK297632 mRNA. Translation: BAG60005.1.
AL049611, AL136125 Genomic DNA. Translation: CAI19693.1.
AL136125, AL049611 Genomic DNA. Translation: CAI20107.1.
BC020210 mRNA. Translation: AAH20210.1.
CCDSCCDS4942.1. [Q5JVL4-1]
CCDS55021.1. [Q5JVL4-3]
RefSeqNP_001165891.1. NM_001172420.1. [Q5JVL4-3]
NP_060570.2. NM_018100.3. [Q5JVL4-1]
UniGeneHs.403171.

3D structure databases

ProteinModelPortalQ5JVL4.
SMRQ5JVL4. Positions 90-204, 235-367, 555-638.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125313. 2 interactions.
IntActQ5JVL4. 1 interaction.
MINTMINT-1484267.
STRING9606.ENSP00000360107.

PTM databases

PhosphoSiteQ5JVL4.

Polymorphism databases

DMDM74762202.

Proteomic databases

MaxQBQ5JVL4.
PaxDbQ5JVL4.
PeptideAtlasQ5JVL4.
PRIDEQ5JVL4.

Protocols and materials databases

DNASU114327.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371068; ENSP00000360107; ENSG00000096093. [Q5JVL4-1]
ENST00000480623; ENSP00000434498; ENSG00000096093. [Q5JVL4-2]
ENST00000538167; ENSP00000444521; ENSG00000096093. [Q5JVL4-3]
GeneID114327.
KEGGhsa:114327.
UCSCuc003pap.4. human. [Q5JVL4-1]

Organism-specific databases

CTD114327.
GeneCardsGC06P052284.
HGNCHGNC:16406. EFHC1.
HPACAB020814.
HPA035307.
MIM254770. phenotype.
607631. phenotype.
608815. gene.
neXtProtNX_Q5JVL4.
Orphanet1941. Juvenile absence epilepsy.
307. Juvenile myoclonic epilepsy.
PharmGKBPA27654.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG282456.
HOGENOMHOG000265451.
HOVERGENHBG059646.
InParanoidQ5JVL4.
OMACIENSQN.
PhylomeDBQ5JVL4.
TreeFamTF314504.

Gene expression databases

ArrayExpressQ5JVL4.
BgeeQ5JVL4.
CleanExHS_EFHC1.
GenevestigatorQ5JVL4.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR010554. DUF1126.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR006602. Uncharacterised_DM10.
[Graphical view]
PfamPF06565. DUF1126. 3 hits.
[Graphical view]
SMARTSM00676. DM10. 3 hits.
[Graphical view]
PROSITEPS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEFHC1. human.
GeneWikiEFHC1.
GenomeRNAi114327.
NextBio79065.
PROQ5JVL4.
SOURCESearch...

Entry information

Entry nameEFHC1_HUMAN
AccessionPrimary (citable) accession number: Q5JVL4
Secondary accession number(s): B4DMU3 expand/collapse secondary AC list , F5GZD8, Q5XKM4, Q6E1U7, Q6E1U8, Q8WUL2, Q9NVW6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: February 15, 2005
Last modified: July 9, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM