RFLB_MOUSE
ID RFLB_MOUSE Reviewed; 216 AA.
AC Q5SVD0; Q9DB69;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Refilin-B;
DE AltName: Full=Regulator of filamin protein B;
DE Short=RefilinB;
GN Name=Rflnb {ECO:0000312|MGI:MGI:1923816};
GN Synonyms=Cfm1 {ECO:0000303|PubMed:24436304}, Fam101b;
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, and NOD; TISSUE=Cerebellum, and Dendritic cell;
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 GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Kidney;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
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 [5]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, DISRUPTION
RP PHENOTYPE, FUNCTION, 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).
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: At 15.5 dpc, expressed in developing ribs and
CC nucleus pulposus in intervertebral disks. At 18.5 dpc, expression is
CC detected in proliferating and prehypertrophic chondrocytes.
CC {ECO:0000269|PubMed:24436304}.
CC -!- DISRUPTION PHENOTYPE: No visible phenotype; probably due to redundancy
CC with RFLN. 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; AK005164; BAB23855.1; -; mRNA.
DR EMBL; AK171075; BAE42230.1; -; mRNA.
DR EMBL; AL645569; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS48851.1; -.
DR RefSeq; NP_083934.1; NM_029658.1.
DR AlphaFoldDB; Q5SVD0; -.
DR STRING; 10090.ENSMUSP00000021207; -.
DR iPTMnet; Q5SVD0; -.
DR PhosphoSitePlus; Q5SVD0; -.
DR EPD; Q5SVD0; -.
DR MaxQB; Q5SVD0; -.
DR PaxDb; Q5SVD0; -.
DR PRIDE; Q5SVD0; -.
DR ProteomicsDB; 253256; -.
DR Antibodypedia; 65394; 29 antibodies from 13 providers.
DR Ensembl; ENSMUST00000021207; ENSMUSP00000021207; ENSMUSG00000020846.
DR GeneID; 76566; -.
DR KEGG; mmu:76566; -.
DR UCSC; uc007kez.2; mouse.
DR CTD; 359845; -.
DR MGI; MGI:1923816; Rflnb.
DR VEuPathDB; HostDB:ENSMUSG00000020846; -.
DR eggNOG; ENOG502RXSW; Eukaryota.
DR GeneTree; ENSGT00390000016836; -.
DR HOGENOM; CLU_107206_0_0_1; -.
DR InParanoid; Q5SVD0; -.
DR OMA; YPKKTSA; -.
DR OrthoDB; 1235968at2759; -.
DR PhylomeDB; Q5SVD0; -.
DR TreeFam; TF332387; -.
DR BioGRID-ORCS; 76566; 2 hits in 71 CRISPR screens.
DR ChiTaRS; Fam101b; mouse.
DR PRO; PR:Q5SVD0; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q5SVD0; protein.
DR Bgee; ENSMUSG00000020846; Expressed in epithelium of stomach and 247 other tissues.
DR Genevisible; Q5SVD0; MM.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:MGI.
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; ISO:MGI.
DR GO; GO:0030036; P:actin cytoskeleton organization; IMP:MGI.
DR GO; GO:0061572; P:actin filament bundle organization; IGI:MGI.
DR GO; GO:0001837; P:epithelial to mesenchymal transition; 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; Phosphoprotein; Reference proteome.
FT CHAIN 1..216
FT /note="Refilin-B"
FT /id="PRO_0000264632"
FT REGION 1..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 6
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8N5W9"
FT MOD_RES 26
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT CONFLICT 11
FT /note="P -> A (in Ref. 1; BAB23855)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 216 AA; 23380 MW; FFFA79B335B60A5D CRC64;
MVGRLSLQDV PELVDTKKKG DGVLDSPDSG LPPSPSPSHW GLAATAGGGG ERAPVAGTLE
PDAAVTPIVP NPASLTHSLA AICSPRLCPL SFGEGVEFDP LPPKEIKYTS SVKYDSERHF
IDDVQMPLGL VVASCSQTVT CIPNCTWRNY KAEVRFEPRP KPARFLSTTI VYPKYPKTVY
TTTLDYNCHK KLRRFLSSVE LEATEFLGSD GLADEC
