EFHC2_MOUSE
ID EFHC2_MOUSE Reviewed; 750 AA.
AC Q9D485; Q0VBF5; Q8CDV9;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=EF-hand domain-containing family member C2;
GN Name=Efhc2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme, which is required for
CC motile cilia beating. {ECO:0000250|UniProtKB:A0A3Q1N1R0}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:A0A3Q1N1R0}.
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DR EMBL; AK016714; BAB30393.1; -; mRNA.
DR EMBL; AK029501; BAC26479.1; -; mRNA.
DR EMBL; BC120659; AAI20660.1; -; mRNA.
DR CCDS; CCDS40883.1; -.
DR RefSeq; NP_083192.2; NM_028916.4.
DR RefSeq; XP_006527768.1; XM_006527705.3.
DR AlphaFoldDB; Q9D485; -.
DR SMR; Q9D485; -.
DR BioGRID; 216724; 2.
DR STRING; 10090.ENSMUSP00000026014; -.
DR iPTMnet; Q9D485; -.
DR PhosphoSitePlus; Q9D485; -.
DR MaxQB; Q9D485; -.
DR PaxDb; Q9D485; -.
DR PRIDE; Q9D485; -.
DR ProteomicsDB; 277764; -.
DR Antibodypedia; 25126; 99 antibodies from 17 providers.
DR DNASU; 74405; -.
DR Ensembl; ENSMUST00000026014; ENSMUSP00000026014; ENSMUSG00000025038.
DR GeneID; 74405; -.
DR KEGG; mmu:74405; -.
DR UCSC; uc009sse.2; mouse.
DR CTD; 80258; -.
DR MGI; MGI:1921655; Efhc2.
DR VEuPathDB; HostDB:ENSMUSG00000025038; -.
DR eggNOG; KOG0043; Eukaryota.
DR GeneTree; ENSGT00530000063528; -.
DR HOGENOM; CLU_018366_1_0_1; -.
DR InParanoid; Q9D485; -.
DR OMA; SCVPDCT; -.
DR OrthoDB; 236088at2759; -.
DR PhylomeDB; Q9D485; -.
DR TreeFam; TF314504; -.
DR BioGRID-ORCS; 74405; 0 hits in 71 CRISPR screens.
DR PRO; PR:Q9D485; -.
DR Proteomes; UP000000589; Chromosome X.
DR RNAct; Q9D485; protein.
DR Bgee; ENSMUSG00000025038; Expressed in spermatid and 64 other tissues.
DR ExpressionAtlas; Q9D485; baseline and differential.
DR Genevisible; Q9D485; MM.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; ISO:MGI.
DR GO; GO:0072686; C:mitotic spindle; IBA:GO_Central.
DR GO; GO:0043014; F:alpha-tubulin binding; IBA:GO_Central.
DR GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEP:MGI.
DR GO; GO:0060285; P:cilium-dependent cell motility; IBA:GO_Central.
DR GO; GO:0000281; P:mitotic cytokinesis; IBA:GO_Central.
DR GO; GO:0007052; P:mitotic spindle organization; IBA:GO_Central.
DR GO; GO:0010975; P:regulation of neuron projection development; IBA:GO_Central.
DR InterPro; IPR006602; DM10_dom.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR040193; EFHC1/EFHC2/EFHB.
DR PANTHER; PTHR12086; PTHR12086; 1.
DR Pfam; PF06565; DUF1126; 4.
DR SMART; SM00676; DM10; 3.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS51336; DM10; 3.
PE 2: Evidence at transcript level;
KW Cell projection; Cytoplasm; Cytoskeleton; Reference proteome; Repeat.
FT CHAIN 1..750
FT /note="EF-hand domain-containing family member C2"
FT /id="PRO_0000251704"
FT DOMAIN 75..182
FT /note="DM10 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00665"
FT DOMAIN 226..368
FT /note="DM10 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00665"
FT DOMAIN 430..537
FT /note="DM10 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00665"
FT DOMAIN 557..592
FT /note="EF-hand"
FT CONFLICT 381
FT /note="P -> S (in Ref. 1; BAB30393)"
FT /evidence="ECO:0000305"
FT CONFLICT 578
FT /note="P -> T (in Ref. 1; BAC26479)"
FT /evidence="ECO:0000305"
FT CONFLICT 674
FT /note="L -> V (in Ref. 1; BAC26479)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 750 AA; 87646 MW; 382AF75FDB9CB052 CRC64;
MALPFLPGNS FNRNIGKERF HKSQHWGFCN NVRMLVSENK PGVGGDLLYG QKIKPKHSVF
PKGDGTDAPS WVAFDKQVLS FDAYLEDEIS DKRQEIFRIR YYKIYFYLED DTIQVNEPEV
INSGLPQGTS IRRQRIPYPP PNDDQFYTVY DFNINISVVF YGRTFKIYDC DPFTKNFLKK
IGIKLNPPGQ CPLDPYMKMR RETLEFVDPF RPYQSFDTLK RFIQYDGKVL RFFCLWDDST
SLFGDRREFV LHYFLCDGTV EIREVLPSNS GRDAMSSFLR RGKLPKYGPP GIYQPGQITD
RAVLNVYGGL SEWRADGYLL DKYQLGKVEQ DFYTDQDLSI GATINVWGRK VLLCDCDEFT
KTYYRTKYGV DNFTPISCKP PHLPKIERKY PPYTGFGSEE DSFRSCVGLK PTPHRKNFKK
FMELDSFGNI SNILRYFGKL ITHKCADVDR IFVIAFYLSD DTISVFEPIE NNSGNAGGMF
LKRSRVKKPG QEVFKSEFSE YIKAEELYIG ATVNINGYLF ILLNADEYTL NYMENNTDKF
PYSNFELAIQ KLKQEKSKSR EITQVFAAAD YNHTKVVPYN TFRDILMSIT MGKLIDQELI
TIARHYRVPE IMDPDLAYLI ARAHEKFKKN IFENFDMFIY NCVYEDREKK GVLPTKDIRR
MCKSSRLPLD DDFLDCLLSR FEDKDHQINY EIFFSVLNWR MNPTPDLQAP PYLKEKCEDV
WVGMPSPIPV KYVRYLDFLI DVYGLEDNML
