Q5JVL4 (EFHC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 89.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: EF-hand domain-containing protein 1 Alternative name(s): Myoclonin-1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 640 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. 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. |
| Sequence similarities | Contains 3 DM10 domains. Contains 1 EF-hand domain. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Epilepsy |
| Domain | Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | axoneme Inferred from sequence or structural similarity. Source: UniProtKB ciliumInferred from electronic annotation. Source: Compara neuronal cell bodyInferred from sequence or structural similarity. Source: UniProtKB |
| Molecular_function | calcium ion binding Inferred from electronic annotation. Source: InterPro protein C-terminus bindingInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 640 | 640 | EF-hand domain-containing protein 1 | PRO_0000073877 | |||||
Regions | |||||||||
| Domain | 93 – 198 | 106 | DM10 1 | ||||||
| Domain | 239 – 359 | 121 | DM10 2 | ||||||
| Domain | 416 – 520 | 105 | DM10 3 | ||||||
| Domain | 574 – 609 | 36 | EF-hand | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 21 | 21 | MVSNP…FKDST → ML in isoform 3. | VSP_046107 | |||||
| Alternative sequence | 243 – 278 | 36 | LRFYA…EIREV → SDIGTTIGLLISKCDLHLLA KGLGSCIGNYFETLQL in isoform 2. | VSP_015894 | |||||
| Alternative sequence | 279 – 640 | 362 | Missing in isoform 2. | VSP_015895 | |||||
| Natural variant | 77 | 1 | P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1 | VAR_023619 | |||||
| Natural variant | 159 | 1 | R → W No effect on cell death; binds to CACNA1E. Ref.1 Ref.5 Corresponds to variant rs3804506 [ dbSNP | Ensembl ]. | VAR_023620 | |||||
| Natural variant | 174 | 1 | I → V Associated with susceptibility to JAE1. Ref.5 | VAR_043154 | |||||
| Natural variant | 182 | 1 | R → H No effect on cell death; binds to CACNA1E. Ref.1 Ref.5 Ref.6 Corresponds to variant rs3804505 [ dbSNP | Ensembl ]. | VAR_023621 | |||||
| Natural variant | 210 | 1 | D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1 | VAR_023622 | |||||
| Natural variant | 221 | 1 | R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1 | VAR_023623 | |||||
| Natural variant | 229 | 1 | F → 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 | VAR_023624 | |||||
| Natural variant | 253 | 1 | D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. Ref.1 | VAR_023625 | |||||
| Natural variant | 259 | 1 | C → Y Associated with susceptibility to JAE1. Ref.5 | VAR_043155 | |||||
| Natural variant | 285 | 1 | R → I. Ref.4 Corresponds to variant rs17851771 [ dbSNP | Ensembl ]. | VAR_026531 | |||||
| Natural variant | 294 | 1 | R → H. Ref.5 Corresponds to variant rs1570624 [ dbSNP | Ensembl ]. | VAR_043156 | |||||
| Natural variant | 353 | 1 | R → W in EJM1. Ref.6 | VAR_043157 | |||||
| Natural variant | 357 | 1 | E → K. Corresponds to variant rs505760 [ dbSNP | Ensembl ]. | VAR_048666 | |||||
| Natural variant | 394 | 1 | A → S in a sporadic case of unclassified epilepsy. | VAR_043158 | |||||
| Natural variant | 448 | 1 | M → T. Ref.5 Corresponds to variant rs1266787 [ dbSNP | Ensembl ]. | VAR_043159 | |||||
| Natural variant | 619 | 1 | I → L No effect on cell death; binds to CACNA1E. Ref.1 Ref.4 Corresponds to variant rs17851770 [ dbSNP | Ensembl ]. | VAR_023626 | |||||
Experimental info | |||||||||
| Sequence conflict | 140 | 1 | N → D in BAG60005. Ref.2 | ||||||
| Sequence conflict | 399 | 1 | A → T in BAA91628. Ref.2 | ||||||
Sequences
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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. 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. 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. 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. 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. |
Web resources
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. |
| IPI | IPI00018207. IPI00382418. IPI00956011. |
| RefSeq | NP_001165891.1. NM_001172420.1. NP_060570.2. NM_018100.3. |
| UniGene | Hs.403171. |
3D structure databases | |
| ProteinModelPortal | Q5JVL4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q5JVL4. 1 interaction. |
| MINT | MINT-1484267. |
| STRING | 9606.ENSP00000360107. |
PTM databases | |
| PhosphoSite | Q5JVL4. |
Polymorphism databases | |
| DMDM | 74762202. |
Proteomic databases | |
| PaxDb | Q5JVL4. |
| PeptideAtlas | Q5JVL4. |
| PRIDE | Q5JVL4. |
Protocols and materials databases | |
| DNASU | 114327. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000371068; ENSP00000360107; ENSG00000096093. ENST00000480623; ENSP00000434498; ENSG00000096093. ENST00000538167; ENSP00000444521; ENSG00000096093. |
| GeneID | 114327. |
| KEGG | hsa:114327. |
| UCSC | uc003pap.4. human. |
Organism-specific databases | |
| CTD | 114327. |
| GeneCards | GC06P052284. |
| HGNC | HGNC:16406. EFHC1. |
| HPA | CAB020814. |
| MIM | 254770. phenotype. 607631. phenotype. 608815. gene. |
| neXtProt | NX_Q5JVL4. |
| Orphanet | 307. Juvenile myoclonic epilepsy. |
| PharmGKB | PA27654. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG282456. |
| HOGENOM | HOG000265451. |
| HOVERGEN | HBG059646. |
| InParanoid | Q5JVL4. |
| OMA | NAKNFPQ. |
| OrthoDB | EOG412M4X. |
| PhylomeDB | Q5JVL4. |
Gene expression databases | |
| ArrayExpress | Q5JVL4. |
| Bgee | Q5JVL4. |
| CleanEx | HS_EFHC1. |
| Genevestigator | Q5JVL4. |
| GermOnline | ENSG00000096093. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.238.10. 1 hit. |
| InterPro | IPR010554. DUF1126. IPR011992. EF-hand-like_dom. IPR002048. EF_hand_dom. IPR006602. Uncharacterised_DM10. [Graphical view] |
| Pfam | PF06565. DUF1126. 3 hits. [Graphical view] |
| SMART | SM00676. DM10. 3 hits. [Graphical view] |
| PROSITE | PS51336. DM10. 3 hits. PS00018. EF_HAND_1. False negative. PS50222. EF_HAND_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | EFHC1. human. |
| GenomeRNAi | 114327. |
| NextBio | 79065. |
| SOURCE | Search... |
Entry information
| Entry name | EFHC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5JVL4 Secondary accession number(s): B4DMU3 Q9NVW6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
