RFLB_HUMAN
ID RFLB_HUMAN Reviewed; 214 AA.
AC Q8N5W9;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Refilin-B;
DE AltName: Full=Regulator of filamin protein B;
DE Short=RefilinB;
GN Name=RFLNB {ECO:0000312|HGNC:HGNC:28705};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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 [2]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-6, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
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:0000250|UniProtKB:Q5SVD0}.
CC -!- SUBUNIT: Interacts with FLNA and FLNB. {ECO:0000250|UniProtKB:Q5SVD0}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q5SVD0}. Note=Colocalizes with FLNA along actin
CC bundle-like structures. {ECO:0000250|UniProtKB:Q5SVD0}.
CC -!- SIMILARITY: Belongs to the Refilin family. {ECO:0000305}.
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DR EMBL; BC031341; AAH31341.1; -; mRNA.
DR RefSeq; NP_874364.1; NM_182705.2.
DR AlphaFoldDB; Q8N5W9; -.
DR BioGRID; 131787; 18.
DR IntAct; Q8N5W9; 10.
DR MINT; Q8N5W9; -.
DR STRING; 9606.ENSP00000331915; -.
DR iPTMnet; Q8N5W9; -.
DR PhosphoSitePlus; Q8N5W9; -.
DR SwissPalm; Q8N5W9; -.
DR BioMuta; RFLNB; -.
DR EPD; Q8N5W9; -.
DR jPOST; Q8N5W9; -.
DR MassIVE; Q8N5W9; -.
DR MaxQB; Q8N5W9; -.
DR PaxDb; Q8N5W9; -.
DR PeptideAtlas; Q8N5W9; -.
DR PRIDE; Q8N5W9; -.
DR ProteomicsDB; 72104; -.
DR Antibodypedia; 65394; 29 antibodies from 13 providers.
DR DNASU; 359845; -.
DR Ensembl; ENST00000329099.4; ENSP00000331915.4; ENSG00000183688.4.
DR GeneID; 359845; -.
DR KEGG; hsa:359845; -.
DR UCSC; uc002frj.4; human.
DR CTD; 359845; -.
DR DisGeNET; 359845; -.
DR GeneCards; RFLNB; -.
DR HGNC; HGNC:28705; RFLNB.
DR HPA; ENSG00000183688; Tissue enriched (bone).
DR MIM; 615928; gene.
DR neXtProt; NX_Q8N5W9; -.
DR PharmGKB; PA143485463; -.
DR VEuPathDB; HostDB:ENSG00000183688; -.
DR eggNOG; ENOG502RXSW; Eukaryota.
DR HOGENOM; CLU_107206_1_0_1; -.
DR InParanoid; Q8N5W9; -.
DR OrthoDB; 1235968at2759; -.
DR PhylomeDB; Q8N5W9; -.
DR TreeFam; TF332387; -.
DR PathwayCommons; Q8N5W9; -.
DR SignaLink; Q8N5W9; -.
DR BioGRID-ORCS; 359845; 7 hits in 180 CRISPR screens.
DR ChiTaRS; RFLNB; human.
DR GenomeRNAi; 359845; -.
DR Pharos; Q8N5W9; Tbio.
DR PRO; PR:Q8N5W9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N5W9; protein.
DR Bgee; ENSG00000183688; Expressed in bone marrow and 103 other tissues.
DR Genevisible; Q8N5W9; HS.
DR GO; GO:0032432; C:actin filament bundle; IBA:GO_Central.
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; IBA:GO_Central.
DR GO; GO:0001837; P:epithelial to mesenchymal transition; IEA:Ensembl.
DR GO; GO:1900158; P:negative regulation of bone mineralization involved in bone maturation; IBA:GO_Central.
DR GO; GO:0061182; P:negative regulation of chondrocyte development; IBA:GO_Central.
DR GO; GO:0048705; P:skeletal system morphogenesis; IBA:GO_Central.
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..214
FT /note="Refilin-B"
FT /id="PRO_0000264631"
FT REGION 1..56
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 6
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 26
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5SVD0"
SQ SEQUENCE 214 AA; 22882 MW; 2A51A58D8A6CB0D6 CRC64;
MVGRLSLQDV PELVDAKKKG DGVLDSPDSG LPPSPSPSHW GLAAGGGGGE RAAAPGTLEP
DAAAATPAAP SPASLPLAPG CALRLCPLSF GEGVEFDPLP PKEVRYTSLV KYDSERHFID
DVQLPLGLAV ASCSQTVTCV PNGTWRNYKA EVRFEPRHRP TRFLSTTIVY PKYPKAVYTT
TLDYNCRKTL RRFLSSVELE AAELPGSDDL SDEC
