RFLA_HUMAN
ID RFLA_HUMAN Reviewed; 216 AA.
AC Q6ZTI6; A5D8T5;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Refilin-A;
DE AltName: Full=Regulator of filamin protein A;
DE Short=RefilinA;
GN Name=RFLNA {ECO:0000312|HGNC:HGNC:27051}; Synonyms=FAM101A;
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 GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 79-216.
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: Involved in the regulation of the perinuclear actin network
CC and nuclear shape through interaction with filamins. Plays an essential
CC role in actin cytoskeleton formation in developing cartilaginous cells.
CC {ECO:0000250|UniProtKB:Q7TS73}.
CC -!- SUBUNIT: Interacts with FLNA and FLNB. {ECO:0000250|UniProtKB:Q7TS73}.
CC -!- INTERACTION:
CC Q6ZTI6; P21333-2: FLNA; NbExp=3; IntAct=EBI-10200920, EBI-9641086;
CC Q6ZTI6-2; P21333-2: FLNA; NbExp=3; IntAct=EBI-12362431, EBI-9641086;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q7TS73}. Note=Colocalizes with FLNA along actin
CC bundle-like structures. {ECO:0000250|UniProtKB:Q7TS73}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZTI6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZTI6-2; Sequence=VSP_022713;
CC -!- SIMILARITY: Belongs to the Refilin family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC073916; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK126577; BAC86601.1; -; mRNA.
DR EMBL; BC141805; AAI41806.1; -; mRNA.
DR CCDS; CCDS9258.1; -. [Q6ZTI6-2]
DR RefSeq; NP_001191228.1; NM_001204299.2. [Q6ZTI6-2]
DR RefSeq; NP_001334831.1; NM_001347902.1. [Q6ZTI6-2]
DR RefSeq; NP_859060.3; NM_181709.4. [Q6ZTI6-2]
DR AlphaFoldDB; Q6ZTI6; -.
DR BioGRID; 126843; 1.
DR BioGRID; 1529428; 1.
DR IntAct; Q6ZTI6; 1.
DR STRING; 9606.ENSP00000374377; -.
DR PhosphoSitePlus; Q6ZTI6; -.
DR BioMuta; RFLNA; -.
DR jPOST; Q6ZTI6; -.
DR MassIVE; Q6ZTI6; -.
DR PaxDb; Q6ZTI6; -.
DR PeptideAtlas; Q6ZTI6; -.
DR PRIDE; Q6ZTI6; -.
DR ProteomicsDB; 68275; -. [Q6ZTI6-1]
DR ProteomicsDB; 68276; -. [Q6ZTI6-2]
DR Antibodypedia; 31861; 106 antibodies from 21 providers.
DR DNASU; 144347; -.
DR Ensembl; ENST00000324038.6; ENSP00000315626.3; ENSG00000178882.15. [Q6ZTI6-2]
DR Ensembl; ENST00000338359.4; ENSP00000345898.4; ENSG00000178882.15. [Q6ZTI6-2]
DR Ensembl; ENST00000389727.8; ENSP00000374377.4; ENSG00000178882.15. [Q6ZTI6-2]
DR Ensembl; ENST00000546355.4; ENSP00000444080.2; ENSG00000178882.15. [Q6ZTI6-1]
DR GeneID; 100533183; -.
DR GeneID; 144347; -.
DR KEGG; hsa:100533183; -.
DR KEGG; hsa:144347; -.
DR MANE-Select; ENST00000546355.4; ENSP00000444080.2; NM_001365156.1; NP_001352085.1.
DR UCSC; uc001ugd.3; human. [Q6ZTI6-1]
DR CTD; 100533183; -.
DR CTD; 144347; -.
DR DisGeNET; 100533183; -.
DR DisGeNET; 144347; -.
DR GeneCards; RFLNA; -.
DR HGNC; HGNC:27051; RFLNA.
DR HPA; ENSG00000178882; Tissue enriched (stomach).
DR MIM; 615927; gene.
DR neXtProt; NX_Q6ZTI6; -.
DR OpenTargets; ENSG00000178882; -.
DR PharmGKB; PA143485462; -.
DR VEuPathDB; HostDB:ENSG00000178882; -.
DR eggNOG; ENOG502QQHM; Eukaryota.
DR GeneTree; ENSGT00390000016836; -.
DR HOGENOM; CLU_107206_1_0_1; -.
DR InParanoid; Q6ZTI6; -.
DR OMA; PRALHFR; -.
DR OrthoDB; 1235968at2759; -.
DR PhylomeDB; Q6ZTI6; -.
DR TreeFam; TF332387; -.
DR PathwayCommons; Q6ZTI6; -.
DR SignaLink; Q6ZTI6; -.
DR BioGRID-ORCS; 100533183; 1 hit in 29 CRISPR screens.
DR BioGRID-ORCS; 144347; 14 hits in 1066 CRISPR screens.
DR Pharos; Q6ZTI6; Tbio.
DR PRO; PR:Q6ZTI6; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6ZTI6; protein.
DR Bgee; ENSG00000178882; Expressed in ileal mucosa and 111 other tissues.
DR Genevisible; Q6ZTI6; 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; IBA:GO_Central.
DR GO; GO:0061572; P:actin filament bundle organization; IBA:GO_Central.
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 Alternative splicing; Cytoplasm; Cytoskeleton; Methylation;
KW Reference proteome.
FT CHAIN 1..216
FT /note="Refilin-A"
FT /id="PRO_0000274331"
FT REGION 1..83
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 64..82
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 163
FT /note="Asymmetric dimethylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q7TS73"
FT VAR_SEQ 1..81
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_022713"
FT CONFLICT 98
FT /note="N -> S (in Ref. 2; BAC86601)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 216 AA; 23610 MW; 6679E5A4CB3485E8 CRC64;
MVGHLHLQGM EDSLKEQGRE GLLDSPDSGL PPSPSPSPPF YSLAPGILDA RAGGAGASSE
PPGPSEARAP PSQLPNPPAS EMRPRMLPVF FGESIKVNPE PTHEIRCNSE VKYASEKHFQ
DKVFYAPVPT VTAYSETIVA APNCTWRNYR SQLTLEPRPR ALRFRSTTII FPKHARSTFR
TTLHCSLGRP SRWFTASVQL QLCQDPAPSL LGPATL
