RFLA_MOUSE
ID RFLA_MOUSE Reviewed; 204 AA.
AC Q7TS73; Q9CXQ6;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Refilin-A;
DE AltName: Full=Regulator of filamin protein A {ECO:0000303|PubMed:21709252};
DE Short=RefilinA;
GN Name=Rflna; Synonyms=Cfm2 {ECO:0000303|PubMed:24436304}, Fam101a;
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=Head;
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=Embryo;
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 INTERACTION WITH FLNA AND FLNB, FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=21709252; DOI=10.1073/pnas.1104211108;
RA Gay O., Gilquin B., Nakamura F., Jenkins Z.A., McCartney R., Krakow D.,
RA Deshiere A., Assard N., Hartwig J.H., Robertson S.P., Baudier J.;
RT "RefilinB (FAM101B) targets filamin A to organize perinuclear actin
RT networks and regulates nuclear shape.";
RL Proc. Natl. Acad. Sci. U.S.A. 108:11464-11469(2011).
RN [4]
RP TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, FUNCTION,
RP INDUCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH FLNA AND FLNB.
RX PubMed=24436304; DOI=10.1093/hmg/ddu007;
RA Mizuhashi K., Kanamoto T., Moriishi T., Muranishi Y., Miyazaki T.,
RA Terada K., Omori Y., Ito M., Komori T., Furukawa T.;
RT "Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the
RT formation of cartilaginous skeletal elements.";
RL Hum. Mol. Genet. 23:2953-2967(2014).
RN [5]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-151, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryo;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- FUNCTION: Involved in the regulation of the perinuclear actin network
CC and nuclear shape through interaction with filamins. Plays an essential
CC role in the formation of cartilaginous skeletal elements.
CC {ECO:0000269|PubMed:21709252, ECO:0000269|PubMed:24436304}.
CC -!- SUBUNIT: Interacts with FLNA and FLNB. {ECO:0000269|PubMed:21709252,
CC ECO:0000269|PubMed:24436304}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:21709252, ECO:0000269|PubMed:24436304}.
CC Note=Colocalizes with FLNA along actin bundle-like structures.
CC {ECO:0000269|PubMed:24436304}.
CC -!- TISSUE SPECIFICITY: Detected in various tissues, with highest
CC expression in lung, followed by spleen. {ECO:0000269|PubMed:24436304}.
CC -!- DEVELOPMENTAL STAGE: Expression is first detected in the marginal zone
CC of the vertebral primordia at 12.5 dpc. Expression is subsequently
CC observed during skeletal development in the cartilaginous elements
CC including the vertebral bodies, carpal bones, femora, ribs and caudal
CC vertebrae. At 18.5 dpc, expression is increased in the layers of
CC proliferating and prehypertrophic chondrocytes. Furthermore, expression
CC is also observed in intervertebral disk, including nucleus pulposus and
CC annulus fibrosus, during skeletal development.
CC {ECO:0000269|PubMed:24436304}.
CC -!- INDUCTION: Up-regulated during chondrocyte differentiation.
CC {ECO:0000269|PubMed:24436304}.
CC -!- DISRUPTION PHENOTYPE: No visible phenotype; probably due to redundancy
CC with RFLNB. RFLNA and RFLNB double mutant mice exhibit severe skeletal
CC malformations, as characterized by scoliosis, kyphosis, intervertebral
CC disks defects, vertebral fusion in the spine and longitudinal bone
CC growth retardation. Chondrocyte maturation is accelerated in double
CC mutant mice. {ECO:0000269|PubMed:24436304}.
CC -!- SIMILARITY: Belongs to the Refilin family. {ECO:0000305}.
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DR EMBL; AK014112; BAB29164.1; -; mRNA.
DR EMBL; BC053444; AAH53444.1; -; mRNA.
DR CCDS; CCDS19682.1; -.
DR RefSeq; NP_082719.1; NM_028443.2.
DR AlphaFoldDB; Q7TS73; -.
DR BioGRID; 215780; 2.
DR STRING; 10090.ENSMUSP00000048230; -.
DR iPTMnet; Q7TS73; -.
DR PhosphoSitePlus; Q7TS73; -.
DR MaxQB; Q7TS73; -.
DR PaxDb; Q7TS73; -.
DR PRIDE; Q7TS73; -.
DR ProteomicsDB; 254923; -.
DR Antibodypedia; 31861; 106 antibodies from 21 providers.
DR DNASU; 73121; -.
DR Ensembl; ENSMUST00000036109; ENSMUSP00000048230; ENSMUSG00000037962.
DR Ensembl; ENSMUST00000197746; ENSMUSP00000142824; ENSMUSG00000037962.
DR GeneID; 73121; -.
DR KEGG; mmu:73121; -.
DR UCSC; uc008zqt.1; mouse.
DR CTD; 144347; -.
DR MGI; MGI:1920371; Rflna.
DR VEuPathDB; HostDB:ENSMUSG00000037962; -.
DR eggNOG; ENOG502QQHM; Eukaryota.
DR GeneTree; ENSGT00390000016836; -.
DR HOGENOM; CLU_107206_0_0_1; -.
DR InParanoid; Q7TS73; -.
DR OMA; PRALHFR; -.
DR OrthoDB; 1235968at2759; -.
DR PhylomeDB; Q7TS73; -.
DR TreeFam; TF332387; -.
DR BioGRID-ORCS; 73121; 1 hit in 74 CRISPR screens.
DR PRO; PR:Q7TS73; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; Q7TS73; protein.
DR Bgee; ENSMUSG00000037962; Expressed in postcranial axial skeleton and 176 other tissues.
DR Genevisible; Q7TS73; MM.
DR GO; GO:0032432; C:actin filament bundle; IDA:MGI.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0031005; F:filamin binding; IDA:MGI.
DR GO; GO:0061572; P:actin filament bundle organization; IGI:MGI.
DR GO; GO:1900158; P:negative regulation of bone mineralization involved in bone maturation; IGI:MGI.
DR GO; GO:0061182; P:negative regulation of chondrocyte development; IGI:MGI.
DR GO; GO:0048705; P:skeletal system morphogenesis; IGI:MGI.
DR InterPro; IPR028215; Refilin.
DR PANTHER; PTHR31848; PTHR31848; 1.
DR Pfam; PF15068; FAM101; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Cytoskeleton; Methylation; Reference proteome.
FT CHAIN 1..204
FT /note="Refilin-A"
FT /id="PRO_0000274332"
FT REGION 1..52
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 151
FT /note="Asymmetric dimethylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT CONFLICT 193
FT /note="D -> E (in Ref. 1; BAB29164)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 204 AA; 22606 MW; BF85B450C01D9EE0 CRC64;
MVGHLHLQAM GDTREQSRDG LLDSPDSGLP PSPSPSPPFY ALSPGTLDTR TTTEAPAAPS
LFQTPPALEM RSRLLPVFFG ESIEVDPEPA HEIRCNSEIT YASERYFRDK IFYAPVPTVT
AYSETIVAAP NCTWRSYRSQ LTLEPRPRAL RFGSTAIIFP KLARSSFRTT LHCSLGQPRH
WYSSSLQLRR CGDPTPGPSC PDVL
