Hmdb loader
Identification
HMDB Protein ID HMDBP07666
Secondary Accession Numbers
  • 13375
Name EF-hand domain-containing protein 1
Synonyms
  1. Myoclonin-1
Gene Name EFHC1
Protein Type Unknown
Biological Properties
General Function Involved in calcium ion binding
Specific Function May enhance calcium influx through CACNA1E and stimulate programmed cell death
Pathways Not Available
Reactions Not Available
GO Classification
Function
ion binding
cation binding
metal ion binding
binding
calcium ion binding
Cellular Location Not Available
Gene Properties
Chromosome Location Chromosome:6
Locus 6p12.3
SNPs EFHC1
Gene Sequence
>1923 bp
ATGGTGTCCAATCCCGTGCATGGCTTGCCCTTTCTTCCGGGCACGTCCTTTAAGGACTCT
ACGAAAACAGCCTTCCACAGAAGTCAGACGCTGAGCTACAGGAACGGCTATGCAATTGTT
CGACGTCCAACAGTTGGGATAGGCGGAGACCGGCTCCAGTTCAACCAGCTGTCCCAGGCT
GAGCTGGATGAGTTGGCCAGTAAGGCACCAGTCTTAACTTATGGCCAACCTAAACAAGCC
CCACCTGCGGATTTTATTCCTGCGCATGTGGCCTTTGACAAAAAGGTACTGAAATTTGAT
GCCTATTTCCAAGAAGATGTTCCTATGTCAACTGAGGAACAGTATAGGATCCGTCAGGTG
AACATTTACTATTATCTAGAAGATGACAGCATGTCTGTCATAGAGCCTGTTGTAGAAAAT
TCTGGAATCCTTCAAGGCAAGTTAATAAAACGCCAGCGGCTAGCCAAGAATGACCGGGGT
GACCATTACCATTGGAAAGACCTAAATCGAGGAATAAACATCACAATTTATGGCAAAACT
TTCCGCGTTGTTGACTGTGACCAATTCACACAGGTATTTTTAGAAAGCCAAGGAATTGAG
TTAAATCCACCAGAGAAGATGGCTCTTGATCCTTACACTGAACTCCGAAAACAGCCTCTT
CGTAAGTATGTCACCCCATCAGACTTTGATCAACTCAAGCAATTTCTCACCTTTGACAAA
CAGGTCCTTCGATTCTATGCAATCTGGGATGATACAGACAGCATGTATGGTGAATGTCGG
ACCTACATCATTCATTACTATCTTATGGATGATACGGTGGAAATTCGAGAGGTCCACGAA
CGGAATGATGGGAGAGATCCTTTCCCACTCCTAATGAACCGCCAGCGTGTGCCCAAAGTT
TTGGTGGAAAATGCAAAGAACTTCCCTCAGTGTGTGCTAGAAATCTCTGACCAAGAAGTG
TTGGAATGGTATACTGCTAAAGACTTCATTGTTGGGAAGTCACTCACTATCCTTGGGAGA
ACTTTCTTCATTTATGATTGTGATCCATTTACTCGACGGTATTACAAAGAGAAGTTTGGA
ATCACTGATTTACCACGTATTGATGTGAGCAAGCGGGAACCACCTCCAGTAAAACAGGAG
TTGCCTCCTTATAACGGTTTTGGACTAGTGGAAGATTCTGCTCAGAATTGTTTTACTCTC
ATTCCAAAAGCTCCAAAAAAAGACGTTATTAAAATGCTGGTGAATGATAACAAGGTGCTT
CGTTATTTGGCTGTACTGGAATCCCCCATCCCAGAAGACAAAGACCGCAGATTTGTCTTC
TCTTACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCCTCCTGTTCGCAATTCTGGT
ATCATTGGGGGCAAGTACCTTGGCAGGACTAAAGTTGTTAAACCATACTCTACAGTGGAC
AACCCTGTCTACTATGGCCCCAGTGACTTCTTCATTGGTGCTGTGATTGAAGTGTTTGGT
CACCGGTTCATCATCCTTGATACAGACGAGTATGTTTTGAAATACATGGAGAGCAACGCT
GCCCAGTATTCACCAGAAGCACTCGCGTCAATTCAGAACCATGTCCGAAAGCGAGAAGCG
CCTGCTCCAGAAGCAGAAAGCAAGCAAACTGAAAAGGATCCAGGCGTGCAGGAATTGGAA
GCATTAATAGACACAATTCAGAAGCAACTGAAAGATCACTCATGCAAAGACAACATTCGT
GAGGCATTTCAAATTTATGACAAGGAAGCTTCAGGATATGTGGACAGAGACATGTTCTTT
AAAATCTGTGAATCGCTTAACGTCCCAGTGGATGACTCCTTGGTTAAGGAGTTAATCAGG
ATGTGCTCTCATGGAGAAGGCAAAATTAACTACTATAACTTTGTTCGTGCTTTCTCAAAC
TGA
Protein Properties
Number of Residues 640
Molecular Weight 73989.7
Theoretical pI 6.04
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>EF-hand domain-containing protein 1
MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQA
ELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQV
NIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKT
FRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDK
QVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGRDPFPLLMNRQRVPKV
LVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFG
ITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL
RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVD
NPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREA
PAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFF
KICESLNVPVDDSLVKELIRMCSHGEGKINYYNFVRAFSN
GenBank ID Protein 7022518
UniProtKB/Swiss-Prot ID Q5JVL4
UniProtKB/Swiss-Prot Entry Name EFHC1_HUMAN
PDB IDs Not Available
GenBank Gene ID AK001328
GeneCard ID EFHC1
GenAtlas ID EFHC1
HGNC ID HGNC:16406
References
General References
  1. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed:14574404 ]
  2. 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, 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 TO, 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: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  4. 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: Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004 Aug;36(8):842-9. Epub 2004 Jul 18. [PubMed:15258581 ]
  5. Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A: Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. Neurology. 2006 Dec 12;67(11):2029-31. [PubMed:17159113 ]
  6. Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, Lepiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A: Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. Epilepsia. 2007 Sep;48(9):1686-90. Epub 2007 Jul 18. [PubMed:17634063 ]