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Protein

EF-hand domain-containing protein 1

Gene

EFHC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).2 Publications

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. protein C-terminus binding Source: UniProtKB

GO - Biological processi

  1. cerebral cortex cell migration Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:16406. EFHC1.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonspindle 1 Publication

GO - Cellular componenti

  1. axoneme Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. mitotic spindle Source: UniProtKB
  4. neuronal cell body Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Juvenile myoclonic epilepsy 14 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti77 – 771P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
Corresponds to variant rs149055334 [ dbSNP | Ensembl ].
VAR_023619
Natural varianti118 – 1181R → C in EJM1. 1 Publication
VAR_072108
Natural varianti153 – 1531R → Q in EJM1; unknown pathological significance. 1 Publication
VAR_072109
Natural varianti182 – 1821R → C in EJM1; unknown pathological significance. 1 Publication
VAR_072110
Natural varianti210 – 2101D → 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 Publications
VAR_023622
Natural varianti221 – 2211R → 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 Publications
Corresponds to variant rs79761183 [ dbSNP | Ensembl ].
VAR_023623
Natural varianti229 – 2291F → 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. 5 Publications
Corresponds to variant rs137852776 [ dbSNP | Ensembl ].
VAR_023624
Natural varianti253 – 2531D → 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 Publications
VAR_023625
Natural varianti353 – 3531R → W in EJM1. 1 Publication
VAR_043157
Juvenile absence epilepsy 1

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
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741I → V Associated with susceptibility to JAE1. 1 Publication
VAR_043154
Natural varianti259 – 2591C → Y Associated with susceptibility to JAE1. 1 Publication
VAR_043155

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.

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi254770. phenotype.
607631. phenotype.
Orphaneti1941. Juvenile absence epilepsy.
307. Juvenile myoclonic epilepsy.
PharmGKBiPA27654.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 640640EF-hand domain-containing protein 1PRO_0000073877Add
BLAST

Proteomic databases

MaxQBiQ5JVL4.
PaxDbiQ5JVL4.
PeptideAtlasiQ5JVL4.
PRIDEiQ5JVL4.

PTM databases

PhosphoSiteiQ5JVL4.

Expressioni

Tissue specificityi

Widely expressed. Not detected in lymphocytes.1 Publication

Gene expression databases

BgeeiQ5JVL4.
CleanExiHS_EFHC1.
ExpressionAtlasiQ5JVL4. baseline and differential.
GenevestigatoriQ5JVL4.

Organism-specific databases

HPAiHPA035307.

Interactioni

Subunit structurei

Interacts with the C-terminus of CACNA1E.1 Publication

Protein-protein interaction databases

BioGridi125313. 6 interactions.
IntActiQ5JVL4. 1 interaction.
MINTiMINT-1484267.
STRINGi9606.ENSP00000360107.

Structurei

3D structure databases

ProteinModelPortaliQ5JVL4.
SMRiQ5JVL4. Positions 90-204, 235-367, 555-638.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini93 – 198106DM10 1PROSITE-ProRule annotationAdd
BLAST
Domaini239 – 359121DM10 2PROSITE-ProRule annotationAdd
BLAST
Domaini416 – 520105DM10 3PROSITE-ProRule annotationAdd
BLAST
Domaini574 – 60936EF-handPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 DM10 domains.PROSITE-ProRule annotation
Contains 1 EF-hand domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG282456.
GeneTreeiENSGT00530000063528.
HOGENOMiHOG000265451.
HOVERGENiHBG059646.
InParanoidiQ5JVL4.
OMAiAQYSPEA.
PhylomeDBiQ5JVL4.
TreeFamiTF314504.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR010554. DUF1126.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR006602. Uncharacterised_DM10.
[Graphical view]
PfamiPF06565. DUF1126. 3 hits.
[Graphical view]
SMARTiSM00676. DM10. 3 hits.
[Graphical view]
PROSITEiPS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]

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.

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti140 – 1401N → D in BAG60005 (PubMed:14702039).Curated
Sequence conflicti399 – 3991A → T in BAA91628 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti77 – 771P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
Corresponds to variant rs149055334 [ dbSNP | Ensembl ].
VAR_023619
Natural varianti118 – 1181R → C in EJM1. 1 Publication
VAR_072108
Natural varianti153 – 1531R → Q in EJM1; unknown pathological significance. 1 Publication
VAR_072109
Natural varianti159 – 1591R → W Polymorphism with no effect on cell death; binds to CACNA1E as the wild type protein; does not affect subcellular location. 3 Publications
Corresponds to variant rs3804506 [ dbSNP | Ensembl ].
VAR_023620
Natural varianti174 – 1741I → V Associated with susceptibility to JAE1. 1 Publication
VAR_043154
Natural varianti182 – 1821R → C in EJM1; unknown pathological significance. 1 Publication
VAR_072110
Natural varianti182 – 1821R → H No effect on cell death; binds to CACNA1E. 3 Publications
Corresponds to variant rs3804505 [ dbSNP | Ensembl ].
VAR_023621
Natural varianti210 – 2101D → 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 Publications
VAR_023622
Natural varianti221 – 2211R → 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 Publications
Corresponds to variant rs79761183 [ dbSNP | Ensembl ].
VAR_023623
Natural varianti229 – 2291F → 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. 5 Publications
Corresponds to variant rs137852776 [ dbSNP | Ensembl ].
VAR_023624
Natural varianti253 – 2531D → 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 Publications
VAR_023625
Natural varianti259 – 2591C → Y Associated with susceptibility to JAE1. 1 Publication
VAR_043155
Natural varianti285 – 2851R → I.1 Publication
Corresponds to variant rs17851771 [ dbSNP | Ensembl ].
VAR_026531
Natural varianti294 – 2941R → H.1 Publication
Corresponds to variant rs1570624 [ dbSNP | Ensembl ].
VAR_043156
Natural varianti353 – 3531R → W in EJM1. 1 Publication
VAR_043157
Natural varianti357 – 3571E → K.
Corresponds to variant rs505760 [ dbSNP | Ensembl ].
VAR_048666
Natural varianti394 – 3941A → S in a sporadic case of unclassified epilepsy. 1 Publication
VAR_043158
Natural varianti448 – 4481M → T.1 Publication
Corresponds to variant rs1266787 [ dbSNP | Ensembl ].
VAR_043159
Natural varianti619 – 6191I → L Polymorphism with no effect on cell death; normally binds to CACNA1E; does not affect subcellular location. 3 Publications
Corresponds to variant rs17851770 [ dbSNP | Ensembl ].
VAR_023626

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2121MVSNP…FKDST → ML in isoform 3. 1 PublicationVSP_046107Add
BLAST
Alternative sequencei243 – 27836LRFYA…EIREV → SDIGTTIGLLISKCDLHLLA KGLGSCIGNYFETLQL in isoform 2. 1 PublicationVSP_015894Add
BLAST
Alternative sequencei279 – 640362Missing in isoform 2. 1 PublicationVSP_015895Add
BLAST

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, AL136125 Genomic DNA. Translation: CAI19693.1.
AL136125, AL049611 Genomic DNA. Translation: CAI20107.1.
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]
ENST00000480623; ENSP00000434498; ENSG00000096093. [Q5JVL4-2]
ENST00000538167; ENSP00000444521; ENSG00000096093. [Q5JVL4-3]
GeneIDi114327.
KEGGihsa:114327.
UCSCiuc003pap.4. human. [Q5JVL4-1]

Polymorphism databases

DMDMi74762202.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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, AL136125 Genomic DNA. Translation: CAI19693.1.
AL136125, AL049611 Genomic DNA. Translation: CAI20107.1.
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.

3D structure databases

ProteinModelPortaliQ5JVL4.
SMRiQ5JVL4. Positions 90-204, 235-367, 555-638.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125313. 6 interactions.
IntActiQ5JVL4. 1 interaction.
MINTiMINT-1484267.
STRINGi9606.ENSP00000360107.

PTM databases

PhosphoSiteiQ5JVL4.

Polymorphism databases

DMDMi74762202.

Proteomic databases

MaxQBiQ5JVL4.
PaxDbiQ5JVL4.
PeptideAtlasiQ5JVL4.
PRIDEiQ5JVL4.

Protocols and materials databases

DNASUi114327.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371068; ENSP00000360107; ENSG00000096093. [Q5JVL4-1]
ENST00000480623; ENSP00000434498; ENSG00000096093. [Q5JVL4-2]
ENST00000538167; ENSP00000444521; ENSG00000096093. [Q5JVL4-3]
GeneIDi114327.
KEGGihsa:114327.
UCSCiuc003pap.4. human. [Q5JVL4-1]

Organism-specific databases

CTDi114327.
GeneCardsiGC06P052284.
HGNCiHGNC:16406. EFHC1.
HPAiHPA035307.
MIMi254770. phenotype.
607631. phenotype.
608815. gene.
neXtProtiNX_Q5JVL4.
Orphaneti1941. Juvenile absence epilepsy.
307. Juvenile myoclonic epilepsy.
PharmGKBiPA27654.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG282456.
GeneTreeiENSGT00530000063528.
HOGENOMiHOG000265451.
HOVERGENiHBG059646.
InParanoidiQ5JVL4.
OMAiAQYSPEA.
PhylomeDBiQ5JVL4.
TreeFamiTF314504.

Miscellaneous databases

ChiTaRSiEFHC1. human.
GeneWikiiEFHC1.
GenomeRNAii114327.
NextBioi79065.
PROiQ5JVL4.
SOURCEiSearch...

Gene expression databases

BgeeiQ5JVL4.
CleanExiHS_EFHC1.
ExpressionAtlasiQ5JVL4. baseline and differential.
GenevestigatoriQ5JVL4.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR010554. DUF1126.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR006602. Uncharacterised_DM10.
[Graphical view]
PfamiPF06565. DUF1126. 3 hits.
[Graphical view]
SMARTiSM00676. DM10. 3 hits.
[Graphical view]
PROSITEiPS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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. Cited for: INVOLVEMENT IN JAE1, VARIANTS TRP-159; VAL-174; HIS-182; LEU-229; TYR-259; HIS-294; SER-394 AND THR-448.
  6. Cited for: INVOLVEMENT IN EJM1, VARIANTS EJM1 LEU-229 AND TRP-353, VARIANT HIS-182.
  7. "Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development."
    de Nijs L., Wolkoff N., Coumans B., Delgado-Escueta A.V., Grisar T., Lakaye B.
    Hum. Mol. Genet. 21:5106-5117(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EJM1 ASN-210; HIS-221; LEU-229 AND TYR-253, CHARACTERIZATION OF VARIANTS TRP-159 AND LEU-619.
  8. "Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene."
    Berger I., Dor T., Halvardson J., Edvardson S., Shaag A., Feuk L., Elpeleg O.
    Epilepsia 53:1436-1440(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EJM1 LEU-229, POSSIBLE INVOLVEMENT IN INTRACTABLE EPILEPSY OF INFANCY.
  9. Cited for: VARIANTS EJM1 CYS-118; GLN-153 AND CYS-182.

Entry informationi

Entry nameiEFHC1_HUMAN
AccessioniPrimary (citable) accession number: Q5JVL4
Secondary accession number(s): B4DMU3
, F5GZD8, Q5XKM4, Q6E1U7, Q6E1U8, Q8WUL2, Q9NVW6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: February 15, 2005
Last modified: March 4, 2015
This is version 105 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.