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Protein

EF-hand domain-containing protein 1

Gene

Efhc1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 4 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 (By similarity). May enhance calcium influx through CACNA1E and stimulate programmed cell death. Overexpression of EFHC1 in hippocampal primary culture neurons induced apoptosis.By similarity1 Publication

GO - Molecular functioni

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

GO - Biological processi

  • cellular calcium ion homeostasis Source: UniProtKB
  • cerebral cortex cell migration Source: MGI
  • positive regulation of apoptotic process 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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1919127. Efhc1.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: UniProtKB
  • centrosome Source: MGI
  • cilium Source: MGI
  • cytoplasm Source: UniProtKB-KW
  • mitotic spindle Source: MGI
  • neuronal cell body Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 648648EF-hand domain-containing protein 1PRO_0000073878Add
BLAST

Proteomic databases

MaxQBiQ9D9T8.
PaxDbiQ9D9T8.
PRIDEiQ9D9T8.

PTM databases

iPTMnetiQ9D9T8.
PhosphoSiteiQ9D9T8.

Expressioni

Tissue specificityi

Expressed in adult brain including hippocampus, cerebellum, cerebral cortex, thalamus, hypothalamus, amygdala and upper brainstem. Expressed in soma and dentrites of pyramidal neurons of the hippocampal CA1 region, pyramidal neurons of the cerebral cortex and Purkinje cells of cerebellum. Highly expressed in testis, trachea, and oviduct, moderately in lung, and slightly in brain. Highly expressed in sperm flagella and tracheal cilia (at protein level).2 Publications

Gene expression databases

CleanExiMM_EFHC1.

Interactioni

Subunit structurei

Interacts with the C-terminus of CACNA1E.By similarity

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000042343.

Structurei

3D structure databases

ProteinModelPortaliQ9D9T8.
SMRiQ9D9T8. Positions 90-203, 235-367, 557-647.
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
Domaini582 – 61736EF-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

eggNOGiKOG0043. Eukaryota.
ENOG410XQCQ. LUCA.
HOGENOMiHOG000265451.
HOVERGENiHBG059646.
InParanoidiQ9D9T8.
PhylomeDBiQ9D9T8.

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.
SM00054. EFh. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9D9T8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGTNPVHGLP FLPGSSFTDS TKTAFHRSQT LNYRNGYAVV RRPTMGIGGD
60 70 80 90 100
RLHYNQLSQA ELDELANKAP ILTYGPLKQA PLAEFVPAHV AFDKKVLKFS
110 120 130 140 150
AYFQEDVPIS MEEHYRIRHV NIYYYLEDDS MSVIEPVVEN SGIPQGKLIK
160 170 180 190 200
RQRFTKNDMG DHYHWKDLNR GINLTVYGKT FRIVDCDRFT QDFLESQGIE
210 220 230 240 250
LNPSEKIPLD PYTQLRKEPV RKYVTPSDFD QLKQFLTFDK QVLRFYAIWD
260 270 280 290 300
DTDSLFGECR HYIIHYYLMD DTVEIREVHE RNNGRDPFPL LMNRQRMPKV
310 320 330 340 350
LVENAKNFPK CVLEISDQEV LEWYTAKDFI VGKPLTILGR TFFIYDCDPF
360 370 380 390 400
TRQFYKDKFG MPDLPPVDVT KKEPPPVKQE LPPYNGYGLI EDSAQNCFAL
410 420 430 440 450
IPKAPRKDVV KMLMNDNKVL RYLAALESPI PEDKDRRFVF SYFLATDMIS
460 470 480 490 500
IFEPPVRNSG IIGGKFLGRT KVVKSFSPVD NPIYYSPSDF FIGAVIEVFG
510 520 530 540 550
HRFVILDTDE YVLKYMESNA SQYSPEALAS IQNRIQKPEL PAPELESKQA
560 570 580 590 600
TGEPMVQGTE ESKVQDLDAL IDQIHMHLKY NSYKENLRET FQMYDKDESG
610 620 630 640
YVDRETFFKI CETLNVPVDD SLIKELIRLC THGEGRINYY NFVRAFSN
Length:648
Mass (Da):75,142
Last modified:June 1, 2001 - v1
Checksum:iBBA3377AADB9D373
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK006489 mRNA. Translation: BAB24614.1.
CCDSiCCDS48227.1.
RefSeqiNP_082250.1. NM_027974.1.
UniGeneiMm.29178.

Genome annotation databases

GeneIDi71877.
KEGGimmu:71877.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK006489 mRNA. Translation: BAB24614.1.
CCDSiCCDS48227.1.
RefSeqiNP_082250.1. NM_027974.1.
UniGeneiMm.29178.

3D structure databases

ProteinModelPortaliQ9D9T8.
SMRiQ9D9T8. Positions 90-203, 235-367, 557-647.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000042343.

PTM databases

iPTMnetiQ9D9T8.
PhosphoSiteiQ9D9T8.

Proteomic databases

MaxQBiQ9D9T8.
PaxDbiQ9D9T8.
PRIDEiQ9D9T8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi71877.
KEGGimmu:71877.

Organism-specific databases

CTDi114327.
MGIiMGI:1919127. Efhc1.

Phylogenomic databases

eggNOGiKOG0043. Eukaryota.
ENOG410XQCQ. LUCA.
HOGENOMiHOG000265451.
HOVERGENiHBG059646.
InParanoidiQ9D9T8.
PhylomeDBiQ9D9T8.

Miscellaneous databases

PROiQ9D9T8.
SOURCEiSearch...

Gene expression databases

CleanExiMM_EFHC1.

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.
SM00054. EFh. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS51336. DM10. 3 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Testis.
  2. Cited for: FUNCTION, TISSUE SPECIFICITY.
  3. "The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella."
    Ikeda T., Ikeda K., Enomoto M., Park M.K., Hirono M., Kamiya R.
    FEBS Lett. 579:819-822(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Testis.

Entry informationi

Entry nameiEFHC1_MOUSE
AccessioniPrimary (citable) accession number: Q9D9T8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: June 1, 2001
Last modified: June 8, 2016
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

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 one 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.