| Tag | Content |
|---|---|
| Uniprot ID | Q8BTM8; B7FAV0; O54934; Q7TQI1; Q8BLK1; Q8BTN7; Q8VHX5; Q8VHX8; Q99KQ2; |
| Entrez ID | 192176 |
| Genbank protein ID | AAL68444.1; AAL68447.1; BAC40787.1; AAH54432.1; CAT00728.1; AAH04061.1; BAC40837.2; BAC32121.1; AAC02062.1; |
| Genbank nucleotide ID | XM_006527911.3 |
| Ensembl protein ID | ENSMUSP00000033699 |
| Ensembl nucleotide ID | ENSMUSG00000031328 |
| Gene name | Filamin-A |
| Gene symbol | Flna |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 16825286 |
| Functional description | Actin binding protein that promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins (By similarity). Interaction with FLNB may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking. Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs (PubMed:17172441). Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (PubMed:20713593). During the axon guidance process, required for growth cone collapse induced by SEMA3A-mediated stimulation of neurons (PubMed:25358863). |
| Sequence | MSSSHSRCGQ SAAVASPGGS IDSRDAEMPA TEKDLAEDAP WKKIQQNTFT RWCNEHLKCV 60 SKRIANLQTD LSDGLRLIAL LEVLSQKKMH RKHNQRPTFR QMQLENVSVA LEFLDRESIK 120 LVSIDSKAIV DGNLKLILGL IWTLILHYSI SMPMWDEEED EEAKKQTPKQ RLLGWIQNKL 180 PQLPITNFSR DWQSGRALGA LVDSCAPGLC PDWDSWDASK PVNNAREAMQ QADDWLGIPQ 240 VITPEEIVDP NVDEHSVMTY LSQFPKAKLK PGAPLRPKLN PKKARAYGPG IEPTGNMVKK 300 RAEFTVETRS AGQGEVLVYV EDPAGHQEEA KVTANNDKNR TFSVWYVPEV TGTHKVTVLF 360 AGQHIAKSPF EVYVDKSQGD ASKVTAQGPG LEPSGNIANK TTYFEIFTAG AGMGEVEVVI 420 QDPTGQKGTV EPQLEARGDS TYRCSYQPTM EGVHTVHVTF AGVPIPRSPY TVTVGQACNP 480 AACRAIGRGL QPKGVRVKET ADFKVYTKGA GSGELKVTVK GPKGEERVKQ KDLGDGVYGF 540 EYYPTIPGTY TVTITWGGQN IGRSPFEVKV GTECGNQKVR AWGPGLEGGI VGKSADFVVE 600 AIGDDVGTLG FSVEGPSQAK IECDDKGDGS CDVRYWPQEA GEYAVHVLCN SEDIRLSPFM 660 ADIREAPQDF HPDRVKARGP GLEKTGVAVN KPAEFTVDAK HAGKAPLRVQ VQDNEGCSVE 720 ATVKDNGNGT YSCSYVPRKP VKHTAMVSWG GVSIPNSPFR VNVGAGSHPN KVKVYGPGVA 780 KTGLKAHEPT YFTVDCTEAG QGDVSIGIKC APGVVGPTEA DIDFDIIRND NDTFTVKYTP 840 CGAGSYTIMV LFADQATPTS PIRVKVEPSH DASKVKAEGP GLNRTGVELG KPTHFTVNAK 900 TAGKGKLDVQ FSGLAKGDAV RDVDIIDHHD NTYTVKYIPV QQGPVGVNVT YGGDHIPKSP 960 FSVGVSPSLD LSKIKVSGLG DKVDVGKDQE FTVKSKGAGG QGKVASKIVS PSGAAVPCKV 1020 EPGLGADNSV VRFVPREEGP YEVEVTYDGV PVPGSPFPLE AVAPTKPSKV KAFGPGLQGG 1080 NAGSPARFTI DTKGAGTGGL GLTVEGPCEA QLECLDNGDG TCSVSYVPTE PGDYNINILF 1140 ADTHIPGSPF KAHVAPCFDA SKVKCSGPGL ERATAGEVGQ FQVDCSSAGS AELTIEICSE 1200 AGLPAEVYIQ DHGDGTHTIT YIPLCPGAYT VTIKYGGQPV PNFPSKLQVE PAVDTSGVQC 1260 YGPGIEGQGV FREATTEFSV DARALTQTGG PHVKARVANP SGNLTDTYVQ DCGDGTYKVE 1320 YTPYEEGVHS VDVTYDGSPV PSSPFQVPVT EGCDPSRVRV HGPGIQSGTT NKPNKFTVET 1380 RGAGTGGLGL AVEGPSEAKM SCMDNKDGSC SVEYIPYEAG TYSLNVTYGG HQVPGSPFKV 1440 PVHDVTDASK VKCSGPGLSP GMVRANLPQS FQVDTSKAGV APLQVKVQGP KGLVEPVDVV 1500 DNADGTQTVN YVPSREGSYS ISVLYGEEEV PRSPFKVKVL PTHDASKVKA SGPGLNTTGV 1560 PASLPVEFTI DAKDAGEGLL AVQITDPEGK PKKTHIQDNH DGTYTVAYVP DVPGRYTILI 1620 KYGGDEIPFS PYRVRAVPTG DASKCTVTVS IGGHGLGAGI GPTIQIGEET VITVDTKAAG 1680 KGKVTCTVCT PDGSEVDVDV VENEDGTFDI FYTAPQPGKY VICVRFGGEH VPNSPFQVTA 1740 LAGDQPTVQT PLRSQQLAPQ YNYPQGSQQT WIPERPMVGV NGLDVTSLRP FDLVIPFTIK 1800 KGEITGEVRM PSGKVAQPSI TDNKDGTVTV RYSPSEAGLH EMDIRYDNMH IPGSPLQFYV 1860 DYVNCGHITA YGPGLTHGVV NKPATFTVNT KDAGEGGLSL AIEGPSKAEI SCTDNQDGTC 1920 SVSYLPVLPG DYSILVKYND QHIPGSPFTA RVTGDDSMRM SHLKVGSAAD IPINISETDL 1980 SLLTATVVPP SGREEPCLLK RLRNGHVGIS FVPKETGEHL VHVKKNGQHV ASSPIPVVIS 2040 QSEIGDASRV RVSGQGLHEG HTFEPAEFII DTRDAGYGGL SLSIEGPSKV DINTEDLEDG 2100 TCRVTYCPTE PGNYIINIKF ADQHVPGSPF SVKVTGEGRV KESITRRRRA PSVANIGSHC 2160 DLSLKIPEIS IQDMTAQVTS PSGKTHEAEI VEGENHTYCI RFVPAEMGMH TVSVKYKGQH 2220 VPGSPFQFTV GPLGEGGAHK VRAGGPGLER AEVGVPAEFG IWTREAGAGG LAIAVEGPSK 2280 AEISFEDRKD GSCGVAYVVQ EPGDYEVSVK FNEEHIPDSP FVVPVASPSG DARRLTVSSL 2340 QESGLKVNQP ASFAVSLNGA KGAIDAKVHS PSGALEECYV TEIDQDKYAV RFIPRENGIY 2400 LIDVKFNGTH IPGSPFKIRV GEPGHGGDPG LVSAYGAGLE GGVTGSPAEF IVNTSNAGAG 2460 ALSVTIDGPS KVKMDCQECP EGYRVTYTPM APGSYLISIK YGGPYHIGGS PFKAKVTGPR 2520 LVSNHSLHET SSVFVDSLTK VATVPQHATS GPGPADVSKV VAKGLGLSKA YVGQKSNFTV 2580 DCSKAGNNML LVGVHGPRTP CEEILVKHMG SRLYSVSYLL KDKGEYTLVV KWGDEHIPGS 2640 PYRIMVP 2647 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001664 | G protein-coupled receptor binding | ISO |
| GO:0003779 | actin binding | TAS |
| GO:0005080 | protein kinase C binding | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | ISS |
| GO:0008134 | transcription factor binding | ISO |
| GO:0015459 | potassium channel regulator activity | ISO |
| GO:0015459 | potassium channel regulator activity | IMP |
| GO:0017048 | Rho GTPase binding | ISS |
| GO:0017048 | Rho GTPase binding | ISO |
| GO:0017160 | Ral GTPase binding | ISO |
| GO:0019900 | kinase binding | ISO |
| GO:0031267 | small GTPase binding | ISO |
| GO:0031852 | mu-type opioid receptor binding | ISO |
| GO:0034988 | Fc-gamma receptor I complex binding | ISS |
| GO:0034988 | Fc-gamma receptor I complex binding | ISO |
| GO:0042803 | protein homodimerization activity | ISO |
| GO:0044325 | ion channel binding | ISO |
| GO:0044877 | protein-containing complex binding | ISO |
| GO:0046332 | SMAD binding | ISO |
| GO:0048365 | Rac GTPase binding | ISS |
| GO:0048365 | Rac GTPase binding | ISO |
| GO:0051015 | actin filament binding | ISS |
| GO:0051015 | actin filament binding | ISO |
| GO:0051020 | GTPase binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001525 | angiogenesis | IMP |
| GO:0001837 | epithelial to mesenchymal transition | IGI |
| GO:0001974 | blood vessel remodeling | IMP |
| GO:0003007 | heart morphogenesis | IMP |
| GO:0007195 | adenylate cyclase-inhibiting dopamine receptor signaling pathway | ISS |
| GO:0007195 | adenylate cyclase-inhibiting dopamine receptor signaling pathway | ISO |
| GO:0010977 | negative regulation of neuron projection development | IGI |
| GO:0016479 | negative regulation of transcription by RNA polymerase I | ISO |
| GO:0021943 | formation of radial glial scaffolds | ISO |
| GO:0030036 | actin cytoskeleton organization | IGI |
| GO:0030334 | regulation of cell migration | ISS |
| GO:0030334 | regulation of cell migration | ISO |
| GO:0031532 | actin cytoskeleton reorganization | ISS |
| GO:0031532 | actin cytoskeleton reorganization | ISO |
| GO:0032231 | regulation of actin filament bundle assembly | IMP |
| GO:0032233 | positive regulation of actin filament bundle assembly | ISO |
| GO:0034394 | protein localization to cell surface | ISS |
| GO:0034394 | protein localization to cell surface | ISO |
| GO:0042177 | negative regulation of protein catabolic process | ISS |
| GO:0042177 | negative regulation of protein catabolic process | ISO |
| GO:0042307 | positive regulation of protein import into nucleus | ISS |
| GO:0042307 | positive regulation of protein import into nucleus | ISO |
| GO:0042789 | mRNA transcription by RNA polymerase II | ISO |
| GO:0043066 | negative regulation of apoptotic process | ISO |
| GO:0043113 | receptor clustering | ISS |
| GO:0043113 | receptor clustering | ISO |
| GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | ISS |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | ISS |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | ISO |
| GO:0044319 | wound healing, spreading of cells | ISS |
| GO:0044319 | wound healing, spreading of cells | ISO |
| GO:0045022 | early endosome to late endosome transport | IDA |
| GO:0045184 | establishment of protein localization | ISS |
| GO:0045184 | establishment of protein localization | ISO |
| GO:0045216 | cell-cell junction organization | IMP |
| GO:0048680 | positive regulation of axon regeneration | IMP |
| GO:0050808 | synapse organization | IDA |
| GO:0050808 | synapse organization | IMP |
| GO:0050821 | protein stabilization | ISS |
| GO:0050821 | protein stabilization | ISO |
| GO:0051220 | cytoplasmic sequestering of protein | ISS |
| GO:0051220 | cytoplasmic sequestering of protein | ISO |
| GO:0051764 | actin crosslink formation | ISS |
| GO:0051764 | actin crosslink formation | ISO |
| GO:0060271 | cilium assembly | ISO |
| GO:0071526 | semaphorin-plexin signaling pathway | ISO |
| GO:0071526 | semaphorin-plexin signaling pathway | IEP |
| GO:0071526 | semaphorin-plexin signaling pathway | IGI |
| GO:0072659 | protein localization to plasma membrane | ISO |
| GO:0072659 | protein localization to plasma membrane | IMP |
| GO:0090042 | tubulin deacetylation | ISO |
| GO:0090307 | mitotic spindle assembly | ISO |
| GO:0097368 | establishment of Sertoli cell barrier | ISO |
| GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading | ISO |
| GO:1901381 | positive regulation of potassium ion transmembrane transport | ISO |
| GO:1901381 | positive regulation of potassium ion transmembrane transport | IMP |
| GO:1902396 | protein localization to bicellular tight junction | ISO |
| GO:1905000 | regulation of membrane repolarization during atrial cardiac muscle cell action potential | IC |
| GO:1905031 | regulation of membrane repolarization during cardiac muscle cell action potential | IMP |
| GO:2000179 | positive regulation of neural precursor cell proliferation | ISO |
| GO:2001046 | positive regulation of integrin-mediated signaling pathway | ISO |
| GO:2001224 | positive regulation of neuron migration | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISS |
| GO:0005634 | nucleus | ISO |
| GO:0005730 | nucleolus | ISO |
| GO:0005737 | cytoplasm | ISS |
| GO:0005737 | cytoplasm | ISO |
| GO:0005802 | trans-Golgi network | IDA |
| GO:0005829 | cytosol | ISO |
| GO:0005884 | actin filament | ISO |
| GO:0005886 | plasma membrane | ISS |
| GO:0005886 | plasma membrane | ISO |
| GO:0005903 | brush border | IDA |
| GO:0005911 | cell-cell junction | ISS |
| GO:0005911 | cell-cell junction | ISO |
| GO:0005938 | cell cortex | ISO |
| GO:0015629 | actin cytoskeleton | ISO |
| GO:0015629 | actin cytoskeleton | IDA |
| GO:0030018 | Z disc | IDA |
| GO:0030426 | growth cone | IDA |
| GO:0030863 | cortical cytoskeleton | ISO |
| GO:0031523 | Myb complex | ISO |
| GO:0032432 | actin filament bundle | IDA |
| GO:0043025 | neuronal cell body | ISO |
| GO:0043198 | dendritic shaft | ISO |
| GO:0043204 | perikaryon | IEA |
| GO:0044295 | axonal growth cone | IDA |
| GO:0048471 | perinuclear region of cytoplasm | ISO |
| GO:0097440 | apical dendrite | ISO |
| GO:0098794 | postsynapse | ISO |
| GO:0098978 | glutamatergic synapse | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-109582 | Hemostasis | IEA |
| R-MMU-114608 | Platelet degranulation | IEA |
| R-MMU-1500931 | Cell-Cell communication | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-194315 | Signaling by Rho GTPases | IEA |
| R-MMU-195258 | RHO GTPase Effectors | IEA |
| R-MMU-430116 | GP1b-IX-V activation signalling | IEA |
| R-MMU-446353 | Cell-extracellular matrix interactions | IEA |
| R-MMU-446728 | Cell junction organization | IEA |
| R-MMU-5627123 | RHO GTPases activate PAKs | IEA |
| R-MMU-76002 | Platelet activation, signaling and aggregation | IEA |
| R-MMU-76005 | Response to elevated platelet cytosolic Ca2+ | IEA |