ELMD3_MOUSE
ID ELMD3_MOUSE Reviewed; 381 AA.
AC Q91YP6; Q3TNV2;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=ELMO domain-containing protein 3;
DE AltName: Full=RNA-binding motif and ELMO domain-containing protein 1;
GN Name=Elmod3; Synonyms=Rbed1;
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] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J; TISSUE=Embryonic stem cell, Eye, and Spinal ganglion;
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] (ISOFORM 1).
RC STRAIN=FVB/N; TISSUE=Mammary tumor;
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).
RN [3]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=24039609; DOI=10.1371/journal.pgen.1003774;
RA Jaworek T.J., Richard E.M., Ivanova A.A., Giese A.P., Choo D.I., Khan S.N.,
RA Riazuddin S., Kahn R.A., Riazuddin S.;
RT "An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated
RT with hearing impairment in humans.";
RL PLoS Genet. 9:E1003774-E1003774(2013).
CC -!- FUNCTION: Acts as a GTPase-activating protein (GAP) for ARL2 with low
CC specific activity. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium
CC {ECO:0000269|PubMed:24039609}. Cell projection, kinocilium
CC {ECO:0000269|PubMed:24039609}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:24039609}. Note=Also present in the cuticular plate
CC of auditory hair cells. In the organ of Corti, in inner hair cells,
CC expressed along the length of the stereocilia, but excluded from the
CC very tip. Colocalizes with F-actin cytoskeleton.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=b/c;
CC IsoId=Q91YP6-1; Sequence=Displayed;
CC Name=2; Synonyms=a;
CC IsoId=Q91YP6-2; Sequence=VSP_022925, VSP_022926;
CC -!- TISSUE SPECIFICITY: Both isoform 1 and isoform 2 are widely expressed.
CC {ECO:0000269|PubMed:24039609}.
CC -!- DEVELOPMENTAL STAGE: Both isoform 1 and isoform 2 are expressed
CC postnatally in the inner ear. Expression increases from P0 to P30 in
CC both cochlear and vestibular tissues; at all time points, isoform 2 is
CC expressed at several-fold higher levels than isoform 1. At P14, in the
CC organ of Corti, detected along the length of stereocilia of hair cells,
CC particularly in the upper half. Also observed in the microvilli on the
CC apical surface of the hair cells. More abundant in the stereocilia of
CC inner hair cells than in those of outer hair cells (at protein level).
CC In the vestibular sensory epithelium, localizes within the hair cell
CC and supporting cell bodies in the saccule and utricule. Not detected in
CC vestibular hair bundles (at protein level).
CC {ECO:0000269|PubMed:24039609}.
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DR EMBL; AK049155; BAC33574.1; -; mRNA.
DR EMBL; AK084010; BAC39096.1; -; mRNA.
DR EMBL; AK164974; BAE37985.1; -; mRNA.
DR EMBL; BC016193; AAH16193.1; -; mRNA.
DR CCDS; CCDS20243.1; -. [Q91YP6-1]
DR RefSeq; NP_001240621.1; NM_001253692.1. [Q91YP6-1]
DR RefSeq; NP_659166.1; NM_144917.5. [Q91YP6-1]
DR RefSeq; XP_006506021.1; XM_006505958.1.
DR RefSeq; XP_006506022.1; XM_006505959.1.
DR RefSeq; XP_011239601.1; XM_011241299.1.
DR AlphaFoldDB; Q91YP6; -.
DR SMR; Q91YP6; -.
DR STRING; 10090.ENSMUSP00000067768; -.
DR iPTMnet; Q91YP6; -.
DR PhosphoSitePlus; Q91YP6; -.
DR PaxDb; Q91YP6; -.
DR PRIDE; Q91YP6; -.
DR ProteomicsDB; 277784; -. [Q91YP6-1]
DR ProteomicsDB; 277785; -. [Q91YP6-2]
DR Antibodypedia; 1572; 94 antibodies from 23 providers.
DR Ensembl; ENSMUST00000070990; ENSMUSP00000067768; ENSMUSG00000056698. [Q91YP6-1]
DR Ensembl; ENSMUST00000114069; ENSMUSP00000109703; ENSMUSG00000056698. [Q91YP6-1]
DR Ensembl; ENSMUST00000141833; ENSMUSP00000145544; ENSMUSG00000056698. [Q91YP6-2]
DR GeneID; 232089; -.
DR KEGG; mmu:232089; -.
DR UCSC; uc009ciu.2; mouse. [Q91YP6-1]
DR UCSC; uc009ciw.2; mouse. [Q91YP6-2]
DR CTD; 84173; -.
DR MGI; MGI:2445168; Elmod3.
DR VEuPathDB; HostDB:ENSMUSG00000056698; -.
DR eggNOG; KOG2998; Eukaryota.
DR GeneTree; ENSGT00390000009488; -.
DR HOGENOM; CLU_060970_0_0_1; -.
DR InParanoid; Q91YP6; -.
DR OMA; PHWENIG; -.
DR OrthoDB; 1282549at2759; -.
DR PhylomeDB; Q91YP6; -.
DR TreeFam; TF323472; -.
DR BioGRID-ORCS; 232089; 3 hits in 71 CRISPR screens.
DR ChiTaRS; Elmod3; mouse.
DR PRO; PR:Q91YP6; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q91YP6; protein.
DR Bgee; ENSMUSG00000056698; Expressed in olfactory epithelium and 239 other tissues.
DR ExpressionAtlas; Q91YP6; baseline and differential.
DR Genevisible; Q91YP6; MM.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0060091; C:kinocilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0032420; C:stereocilium; IEA:UniProtKB-SubCell.
DR InterPro; IPR006816; ELMO_dom.
DR InterPro; IPR030731; ELMOD3.
DR PANTHER; PTHR12771:SF2; PTHR12771:SF2; 1.
DR Pfam; PF04727; ELMO_CED12; 1.
DR PROSITE; PS51335; ELMO; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW GTPase activation; Reference proteome.
FT CHAIN 1..381
FT /note="ELMO domain-containing protein 3"
FT /id="PRO_0000274904"
FT DOMAIN 170..324
FT /note="ELMO"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00664"
FT VAR_SEQ 315..328
FT /note="DLEALAKKSPKRLL -> GWHFLLCPGPRIPG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_022925"
FT VAR_SEQ 329..381
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_022926"
FT CONFLICT 139
FT /note="L -> P (in Ref. 1; BAE37985)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 381 AA; 42659 MW; F477EA8479955C04 CRC64;
MSETSCSFFI EKEFQDGQLE NVSAGLSSSY KDKGALMAFR GIPISELTNH GILQALTAET
NGWQPGVVSE EVLRAQEEWE VVDTIHPDIE SGVHCQQPGQ LISFNEALEH FQSVDLSSFK
KRIQPTIQRT GLAALRHCLF GPPKLHQGLR EERDLVLTIA QCGLDSQNPT HGRVLQTIYK
KLTGSKFDCA LHGDHWEDLG FQGANPATDL RGAGFLALLH LLYLVMDSKT FLMAQEIFRL
SHHHIQQFPF CLMSVNITRI AIQALREECL SRECNRRQKV IPVVNSFYAA TFLHLARVWR
TQQKTILDSG FVLKDLEALA KKSPKRLLKT LDDYLAQVSK GQTSLLEAHK RPGSQGPHSR
DLTFTGVCDL QSHSFESAGL I
