FLIP1_HUMAN
ID FLIP1_HUMAN Reviewed; 1213 AA.
AC Q7Z7B0; B2RMU6; Q5VUL6; Q86TC3; Q8N8B9; Q96SK6; Q9NVI8; Q9ULE5;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Filamin-A-interacting protein 1;
DE Short=FILIP;
GN Name=FILIP1; Synonyms=KIAA1275;
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 [MRNA] (ISOFORM 1).
RA Nagano T., Sato M.;
RT "Human orthologue of L-FILIP.";
RL Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 550-1213 (ISOFORM 3).
RC TISSUE=Small intestine;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Skeletal muscle, and Small intestine;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 74-1213 (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:337-345(1999).
RN [8]
RP INTERACTION WITH RHOD AND FLNA, AND SUBCELLULAR LOCATION.
RX PubMed=23087206; DOI=10.1091/mbc.e12-07-0555;
RA Gad A.K., Nehru V., Ruusala A., Aspenstrom P.;
RT "RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting
RT factor WASp homologue associated with actin Golgi membranes and
RT microtubules.";
RL Mol. Biol. Cell 23:4807-4819(2012).
CC -!- FUNCTION: By acting through a filamin-A/F-actin axis, it controls the
CC start of neocortical cell migration from the ventricular zone. May be
CC able to induce the degradation of filamin-A.
CC {ECO:0000250|UniProtKB:Q8K4T4}.
CC -!- SUBUNIT: Interacts with FLNA. Interacts with RHOD (in GTP-bound form).
CC {ECO:0000269|PubMed:23087206}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:23087206}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=L-FILIP;
CC IsoId=Q7Z7B0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z7B0-2; Sequence=VSP_018345;
CC Name=3; Synonyms=S-FILIP;
CC IsoId=Q7Z7B0-3; Sequence=VSP_018344;
CC -!- TISSUE SPECIFICITY: Moderately expressed in adult heart and brain.
CC Weakly expressed in lung, skeletal muscle, ovary, testis, kidney, and
CC fetal brain, and hardly detectable in liver, pancreas, spleen, and
CC fetal liver. Within brain, moderate expression is found in amygdala and
CC caudate nucleus. {ECO:0000269|PubMed:10574462}.
CC -!- SIMILARITY: Belongs to the FILIP1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91763.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB086011; BAC77067.1; -; mRNA.
DR EMBL; AK001570; BAA91763.1; ALT_INIT; mRNA.
DR EMBL; AK027705; BAB55310.1; -; mRNA.
DR EMBL; AK097021; BAC04928.1; -; mRNA.
DR EMBL; AL832009; CAD89912.1; -; mRNA.
DR EMBL; BX647178; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL445465; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL589649; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48737.1; -; Genomic_DNA.
DR EMBL; BC136443; AAI36444.1; -; mRNA.
DR EMBL; BC136444; AAI36445.1; -; mRNA.
DR EMBL; AB033101; BAA86589.1; -; mRNA.
DR CCDS; CCDS4984.1; -. [Q7Z7B0-1]
DR CCDS; CCDS75480.1; -. [Q7Z7B0-2]
DR RefSeq; NP_001276916.1; NM_001289987.2.
DR RefSeq; NP_001287795.1; NM_001300866.2. [Q7Z7B0-2]
DR RefSeq; NP_056502.1; NM_015687.4. [Q7Z7B0-1]
DR RefSeq; XP_005248770.1; XM_005248713.3. [Q7Z7B0-1]
DR RefSeq; XP_011534058.1; XM_011535756.2. [Q7Z7B0-3]
DR AlphaFoldDB; Q7Z7B0; -.
DR SMR; Q7Z7B0; -.
DR BioGRID; 118029; 26.
DR CORUM; Q7Z7B0; -.
DR IntAct; Q7Z7B0; 5.
DR MINT; Q7Z7B0; -.
DR STRING; 9606.ENSP00000237172; -.
DR GlyGen; Q7Z7B0; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q7Z7B0; -.
DR PhosphoSitePlus; Q7Z7B0; -.
DR SwissPalm; Q7Z7B0; -.
DR BioMuta; FILIP1; -.
DR DMDM; 74750226; -.
DR EPD; Q7Z7B0; -.
DR jPOST; Q7Z7B0; -.
DR MassIVE; Q7Z7B0; -.
DR MaxQB; Q7Z7B0; -.
DR PaxDb; Q7Z7B0; -.
DR PeptideAtlas; Q7Z7B0; -.
DR PRIDE; Q7Z7B0; -.
DR ProteomicsDB; 69507; -. [Q7Z7B0-1]
DR ProteomicsDB; 69508; -. [Q7Z7B0-2]
DR ProteomicsDB; 69509; -. [Q7Z7B0-3]
DR Antibodypedia; 55048; 44 antibodies from 14 providers.
DR DNASU; 27145; -.
DR Ensembl; ENST00000237172.12; ENSP00000237172.7; ENSG00000118407.15. [Q7Z7B0-1]
DR Ensembl; ENST00000393004.6; ENSP00000376728.1; ENSG00000118407.15. [Q7Z7B0-2]
DR GeneID; 27145; -.
DR KEGG; hsa:27145; -.
DR MANE-Select; ENST00000237172.12; ENSP00000237172.7; NM_015687.5; NP_056502.1.
DR UCSC; uc003phy.2; human. [Q7Z7B0-1]
DR CTD; 27145; -.
DR DisGeNET; 27145; -.
DR GeneCards; FILIP1; -.
DR HGNC; HGNC:21015; FILIP1.
DR HPA; ENSG00000118407; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR MIM; 607307; gene.
DR neXtProt; NX_Q7Z7B0; -.
DR OpenTargets; ENSG00000118407; -.
DR PharmGKB; PA134992638; -.
DR VEuPathDB; HostDB:ENSG00000118407; -.
DR eggNOG; ENOG502QRWK; Eukaryota.
DR GeneTree; ENSGT00950000182852; -.
DR InParanoid; Q7Z7B0; -.
DR OMA; TFMERPT; -.
DR OrthoDB; 90683at2759; -.
DR PhylomeDB; Q7Z7B0; -.
DR TreeFam; TF331399; -.
DR PathwayCommons; Q7Z7B0; -.
DR Reactome; R-HSA-9013405; RHOD GTPase cycle.
DR SignaLink; Q7Z7B0; -.
DR BioGRID-ORCS; 27145; 11 hits in 1066 CRISPR screens.
DR ChiTaRS; FILIP1; human.
DR GeneWiki; FILIP1; -.
DR GenomeRNAi; 27145; -.
DR Pharos; Q7Z7B0; Tdark.
DR PRO; PR:Q7Z7B0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q7Z7B0; protein.
DR Bgee; ENSG00000118407; Expressed in left ventricle myocardium and 157 other tissues.
DR ExpressionAtlas; Q7Z7B0; baseline and differential.
DR Genevisible; Q7Z7B0; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:HPA.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR InterPro; IPR019131; Cortactin-binding_p2_N.
DR Pfam; PF09727; CortBP2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..1213
FT /note="Filamin-A-interacting protein 1"
FT /id="PRO_0000234540"
FT REGION 1..70
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 878..900
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 949..976
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1103..1213
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 192..591
FT /evidence="ECO:0000255"
FT COILED 624..781
FT /evidence="ECO:0000255"
FT COMPBIAS 31..70
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1103..1159
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1196..1213
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 138
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8K4T4"
FT MOD_RES 979
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9CS72"
FT VAR_SEQ 1..248
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_018344"
FT VAR_SEQ 1165..1213
FT /note="GMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKSAASSTTSLGGGKG ->
FT ESIIIHQLRMNSR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_018345"
FT VARIANT 1003
FT /note="P -> S (in dbSNP:rs34807169)"
FT /id="VAR_050995"
FT CONFLICT 40
FT /note="K -> R (in Ref. 3; CAD89912)"
FT /evidence="ECO:0000305"
FT CONFLICT 74..90
FT /note="ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2;
FT BAA86589)"
FT /evidence="ECO:0000305"
FT CONFLICT 348
FT /note="T -> I (in Ref. 3; CAD89912)"
FT /evidence="ECO:0000305"
FT CONFLICT 373
FT /note="N -> D (in Ref. 3; BX647178)"
FT /evidence="ECO:0000305"
FT CONFLICT 421
FT /note="L -> F (in Ref. 2; BAC04928)"
FT /evidence="ECO:0000305"
FT CONFLICT 723
FT /note="E -> G (in Ref. 2; BAB55310)"
FT /evidence="ECO:0000305"
FT CONFLICT 793
FT /note="R -> K (in Ref. 2; BAB55310)"
FT /evidence="ECO:0000305"
FT CONFLICT 1045
FT /note="T -> A (in Ref. 3; BX647178)"
FT /evidence="ECO:0000305"
FT CONFLICT 1102
FT /note="E -> G (in Ref. 3; CAD89912)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1213 AA; 138109 MW; EE4329B03516E6AF CRC64;
MRSRNQGGES ASDGHISCPK PSIIGNAGEK SLSEDAKKKK KSNRKEDDVM ASGTVKRHLK
TSGECERKTK KSLELSKEDL IQLLSIMEGE LQAREDVIHM LKTEKTKPEV LEAHYGSAEP
EKVLRVLHRD AILAQEKSIG EDVYEKPISE LDRLEEKQKE TYRRMLEQLL LAEKCHRRTV
YELENEKHKH TDYMNKSDDF TNLLEQERER LKKLLEQEKA YQARKEKENA KRLNKLRDEL
VKLKSFALML VDERQMHIEQ LGLQSQKVQD LTQKLREEEE KLKAITSKSK EDRQKLLKLE
VDFEHKASRF SQEHEEMNAK LANQESHNRQ LRLKLVGLTQ RIEELEETNK NLQKAEEELQ
ELRDKIAKGE CGNSSLMAEV ENLRKRVLEM EGKDEEITKT ESQCRELRKK LQEEEHHSKE
LRLEVEKLQK RMSELEKLEE AFSKSKSECT QLHLNLEKEK NLTKDLLNEL EVVKSRVKEL
ECSESRLEKA ELSLKDDLTK LKSFTVMLVD ERKNMMEKIK QEERKVDGLN KNFKVEQGKV
MDVTEKLIEE SKKLLKLKSE MEEKVYNLTR ERDELIGKLK SEEEKSSELS CSVDLLKKRL
DGIEEVEREI TRGRSRKGSE LTCPEDNKIK ELTLEIERLK KRLQQLEVVE GDLMKTEDEY
DQLEQKFRTE QDKANFLSQQ LEEIKHQIAK NKAIEKGEVV SQEAELRHRF RLEEAKSRDL
KAEVQALKEK IHELMNKEDQ LSQLQVDYSV LQQRFMEEEN KNKNMGQEVL NLTKELELSK
RYSRALRPSV NGRRMVDVPV TSTGVQTDAV SGEAAEEETP AVFIRKSFQE ENHIMSNLRQ
VGLKKPVERS SVLDRYPPAA NELTMRKSWI PWMRKRENGP SITQEKGPRT NSSPGHPGEV
VLSPKQGQPL HIRVTPDHEN STATLEITSP TSEEFFSSTT VIPTLGNQKP RITIIPSPNV
MPQKQKSGDT TLGPERAMSP VTITTFSREK TPESGRGAFA DRPTSPIQIM TVSTSAAPAE
IAVSPESQEM PMGRTILKVT PEKQTVPTPV RKYNSNANII TTEDNKIHIH LGSQFKRSPG
TSGEGVSPVI TVRPVNVTAE KEVSTGTVLR SPRNHLSSRP GASKVTSTIT ITPVTTSSAR
GTQSVSGQDG SSQRPTPTRI PMSKGMKAGK PVVAAPGAGN LTKFEPRAET QSMKIELKKS
AASSTTSLGG GKG
