LOCUS       NM_015687               4636 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens filamin A interacting protein 1 (FILIP1), transcript
            variant 2, mRNA.
ACCESSION   NM_015687
VERSION     NM_015687.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4636)
  AUTHORS   Roos,A., van der Ven,P.F.M., Alrohaif,H., Kolbel,H., Heil,L., Della
            Marina,A., Weis,J., Assent,M., Beck-Wodl,S., Barresi,R., Topf,A.,
            O'Connor,K., Sickmann,A., Kohlschmidt,N., El Gizouli,M., Meyer,N.,
            Daya,N., Grande,V., Bois,K., Kaiser,F.J., Vorgerd,M., Schroder,C.,
            Schara-Schmidt,U., Gangfuss,A., Evangelista,T., Robisch,L.,
            Hentschel,A., Gruneboom,A., Fuerst,D.O., Kuechler,A., Tzschach,A.,
            Depienne,C. and Lochmuller,H.
  TITLE     Bi-allelic variants of FILIP1 cause congenital myopathy,
            dysmorphism and neurological defects
  JOURNAL   Brain 146 (10), 4200-4216 (2023)
   PUBMED   37163662
  REMARK    GeneRIF: Bi-allelic variants of FILIP1 cause congenital myopathy,
            dysmorphism and neurological defects.
REFERENCE   2  (bases 1 to 4636)
  AUTHORS   Schnabel,F., Schuler,E., Al-Maawali,A., Chaurasia,A., Syrbe,S.,
            Al-Kindi,A., Bhavani,G.S., Shukla,A., Altmuller,J., Nurnberg,P.,
            Banka,S., Girisha,K.M., Li,Y., Wollnik,B. and Yigit,G.
  TITLE     Homozygous loss-of-function variants in FILIP1 cause autosomal
            recessive arthrogryposis multiplex congenita with microcephaly
  JOURNAL   Hum Genet 142 (4), 543-552 (2023)
   PUBMED   36943452
  REMARK    GeneRIF: Homozygous loss-of-function variants in FILIP1 cause
            autosomal recessive arthrogryposis multiplex congenita with
            microcephaly.
REFERENCE   3  (bases 1 to 4636)
  AUTHORS   Roth,K., Coussement,L., Knatko,E.V., Higgins,M., Steyaert,S.,
            Proby,C.M., de Meyer,T. and Dinkova-Kostova,A.T.
  TITLE     Clinically relevant aberrant Filip1l DNA methylation detected in a
            murine model of cutaneous squamous cell carcinoma
  JOURNAL   EBioMedicine 67, 103383 (2021)
   PUBMED   34000624
  REMARK    GeneRIF: Clinically relevant aberrant Filip1l DNA methylation
            detected in a murine model of cutaneous squamous cell carcinoma.
REFERENCE   4  (bases 1 to 4636)
  AUTHORS   Gad,A.K., Nehru,V., Ruusala,A. and Aspenstrom,P.
  TITLE     RhoD regulates cytoskeletal dynamics via the actin
            nucleation-promoting factor WASp homologue associated with actin
            Golgi membranes and microtubules
  JOURNAL   Mol Biol Cell 23 (24), 4807-4819 (2012)
   PUBMED   23087206
  REMARK    GeneRIF: Data show that RhoD binds the actin nucleation-promoting
            factor WHAMM (WASp homologue associated with actin Golgi membranes
            and microtubules), as well as the related filamin A-binding protein
            FILIP1.
REFERENCE   5  (bases 1 to 4636)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   6  (bases 1 to 4636)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   7  (bases 1 to 4636)
  AUTHORS   Nagano,T., Yoneda,T., Hatanaka,Y., Kubota,C., Murakami,F. and
            Sato,M.
  TITLE     Filamin A-interacting protein (FILIP) regulates cortical cell
            migration out of the ventricular zone
  JOURNAL   Nat Cell Biol 4 (7), 495-501 (2002)
   PUBMED   12055638
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB126435.1, BC136443.1 and
            BX647178.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_015687.4.
            
            Summary: This gene encodes a filamin A binding protein. The encoded
            protein promotes the degradation of filamin A and may regulate
            cortical neuron migration and dendritic spine morphology. Mice
            lacking a functional copy of this gene exhibit reduced dendritic
            spine length and altered excitatory signaling. [provided by RefSeq,
            Oct 2016].
            
            Transcript Variant: This variant (2) lacks a 5' exon, lacks a
            portion of the 5' coding region, and initiates translation at a
            downstream start codon, compared to variant 1. The encoded protein
            (isoform 2) has a shorter N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647178.1, BC136443.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267764 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237172.12/ ENSP00000237172.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-216               DB126435.1         31-246
            217-4359            BC136443.1         1-4143
            4360-4636           BX647178.1         4340-4616
FEATURES             Location/Qualifiers
     source          1..4636
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..4636
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /note="filamin A interacting protein 1"
                     /db_xref="GeneID:27145"
                     /db_xref="HGNC:HGNC:21015"
                     /db_xref="MIM:607307"
     exon            1..387
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /inference="alignment:Splign:2.1.0"
     exon            388..669
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /inference="alignment:Splign:2.1.0"
     CDS             394..4035
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="filamin-A-interacting protein 1 isoform 2"
                     /protein_id="NP_056502.1"
                     /db_xref="CCDS:CCDS4984.1"
                     /db_xref="GeneID:27145"
                     /db_xref="HGNC:HGNC:21015"
                     /db_xref="MIM:607307"
                     /translation="MRSRNQGGESASDGHISCPKPSIIGNAGEKSLSEDAKKKKKSNR
                     KEDDVMASGTVKRHLKTSGECERKTKKSLELSKEDLIQLLSIMEGELQAREDVIHMLK
                     TEKTKPEVLEAHYGSAEPEKVLRVLHRDAILAQEKSIGEDVYEKPISELDRLEEKQKE
                     TYRRMLEQLLLAEKCHRRTVYELENEKHKHTDYMNKSDDFTNLLEQERERLKKLLEQE
                     KAYQARKEKENAKRLNKLRDELVKLKSFALMLVDERQMHIEQLGLQSQKVQDLTQKLR
                     EEEEKLKAITSKSKEDRQKLLKLEVDFEHKASRFSQEHEEMNAKLANQESHNRQLRLK
                     LVGLTQRIEELEETNKNLQKAEEELQELRDKIAKGECGNSSLMAEVENLRKRVLEMEG
                     KDEEITKTESQCRELRKKLQEEEHHSKELRLEVEKLQKRMSELEKLEEAFSKSKSECT
                     QLHLNLEKEKNLTKDLLNELEVVKSRVKELECSESRLEKAELSLKDDLTKLKSFTVML
                     VDERKNMMEKIKQEERKVDGLNKNFKVEQGKVMDVTEKLIEESKKLLKLKSEMEEKVY
                     NLTRERDELIGKLKSEEEKSSELSCSVDLLKKRLDGIEEVEREITRGRSRKGSELTCP
                     EDNKIKELTLEIERLKKRLQQLEVVEGDLMKTEDEYDQLEQKFRTEQDKANFLSQQLE
                     EIKHQIAKNKAIEKGEVVSQEAELRHRFRLEEAKSRDLKAEVQALKEKIHELMNKEDQ
                     LSQLQVDYSVLQQRFMEEENKNKNMGQEVLNLTKELELSKRYSRALRPSVNGRRMVDV
                     PVTSTGVQTDAVSGEAAEEETPAVFIRKSFQEENHIMSNLRQVGLKKPVERSSVLDRY
                     PPAANELTMRKSWIPWMRKRENGPSITQEKGPRTNSSPGHPGEVVLSPKQGQPLHIRV
                     TPDHENSTATLEITSPTSEEFFSSTTVIPTLGNQKPRITIIPSPNVMPQKQKSGDTTL
                     GPERAMSPVTITTFSREKTPESGRGAFADRPTSPIQIMTVSTSAAPAEIAVSPESQEM
                     PMGRTILKVTPEKQTVPTPVRKYNSNANIITTEDNKIHIHLGSQFKRSPGTSGEGVSP
                     VITVRPVNVTAEKEVSTGTVLRSPRNHLSSRPGASKVTSTITITPVTTSSARGTQSVS
                     GQDGSSQRPTPTRIPMSKGMKAGKPVVAAPGAGNLTKFEPRAETQSMKIELKKSAASS
                     TTSLGGGKG"
     exon            670..843
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /inference="alignment:Splign:2.1.0"
     exon            844..1022
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..3828
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /inference="alignment:Splign:2.1.0"
     exon            3829..4636
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4612..4617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /note="hexamer: AATAAA"
     polyA_site      4636
                     /gene="FILIP1"
                     /gene_synonym="FILIP; NMDF"
                     /note="major polyA site"
ORIGIN      
        1 aacatagcca ttgctctgac agtgttgtga agggagcaga agaggagaaa cctaatctcc
       61 gaacccaaca acacctagca acagtagaaa aaacttttaa acaaaagtct gggtgggaga
      121 tatacaacaa cttccaattt ctgctgatcg ggatttcagg gagaagaagc tgctttccct
      181 cctctctact ctgtttcctg catgacttca gctattggct ggtcctggga aagaaagtgg
      241 gaaaagcttt ttcctctgta ttcttttggg ctggatagtt tttgagaact cgaatctgtc
      301 ttgggctgtg agacaagcca ctgggttctt caaaggataa actacctaca tagaggacat
      361 acctttggtt aaaggagctg ccgtcaggtg ggaatgagat ctcgaaacca aggtggtgaa
      421 agtgcatctg atgggcatat ctcctgtccc aagccctcca tcatcggcaa tgctggtgaa
      481 aaaagtctct cagaagatgc aaaaaagaag aagaaatcaa ataggaagga ggatgatgtc
      541 atggcctcag gaactgtcaa acgacaccta aaaacatctg gagaatgtga acgaaaaact
      601 aagaaatccc tggagttatc caaagaagac ctcatccaac tactcagtat aatggaaggg
      661 gagttgcagg ccagagaaga tgtgatccac atgctgaaga cagagaaaac caagcctgag
      721 gttctggagg ctcattacgg gtctgcggag ccagagaaag tgctgcgggt cctgcaccga
      781 gatgccattc ttgcccagga gaaatccata ggagaagatg tctatgagaa accgatttca
      841 gagctggaca gacttgagga aaaacagaaa gaaacctacc ggcgcatgct agagcagctg
      901 ttgctggccg agaagtgtca taggcgcacc gtatacgagt tagagaacga gaagcataaa
      961 cacactgact acatgaacaa gagcgacgac ttcaccaacc tgctggagca ggagcgggag
     1021 aggttaaaaa agctccttga acaagaaaag gcttatcaag cccgcaaaga aaaggaaaat
     1081 gctaaacgac tcaataaact aagagatgag cttgttaaac tcaaatcctt tgcactcatg
     1141 ctggtggatg aaagacaaat gcacattgaa caacttggcc tgcaaagcca gaaagtacag
     1201 gatcttactc agaagctgag ggaagaagaa gagaagctca aagccattac ttccaaatcc
     1261 aaagaagaca gacagaaatt gctcaagtta gaagtggact ttgaacacaa ggcttcgagg
     1321 ttttctcaag agcatgaaga gatgaacgct aaactggcta atcaagagtc tcacaatagg
     1381 caacttagac tcaagctggt tggcttaacc caaagaatcg aggagctaga agagaccaac
     1441 aaaaatctgc agaaggcaga ggaagaactt caagaattaa gagataaaat tgccaaagga
     1501 gaatgtggaa actctagcct catggcagaa gtggaaaatc ttcgaaagcg tgtgcttgaa
     1561 atggaaggta aagatgagga gatcactaaa actgaatccc agtgtaggga attgaggaag
     1621 aagctgcaag aggaagaaca ccatagtaag gagctcagac ttgaagttga gaagctacag
     1681 aagagaatgt ctgaactaga gaaattggaa gaagcattta gcaagagtaa atctgagtgc
     1741 acccagctac atttaaatct ggagaaagaa aagaacttaa ccaaagacct gctaaatgaa
     1801 ttggaggtgg tcaagagtcg agttaaagaa ttggaatgtt ctgaaagtag attggaaaag
     1861 gctgaattaa gcctaaaaga tgatcttacc aagttgaagt catttaccgt gatgctggtt
     1921 gatgaaagga aaaatatgat ggaaaaaata aaacaagaag agagaaaagt ggatggactc
     1981 aataaaaatt ttaaggtgga acaaggaaaa gttatggatg taactgaaaa actaattgaa
     2041 gaaagtaaga aacttttaaa actaaaatct gaaatggagg aaaaagtata caacttgaca
     2101 agagaaagag atgagttgat aggcaaattg aaaagtgaag aagaaaaatc ctctgaatta
     2161 agctgcagtg ttgacttact aaagaagaga cttgatggta tagaggaagt ggaaagagaa
     2221 ataacaagag gaaggtcacg aaaagggtct gagctcacct gcccggaaga taataagatt
     2281 aaggaactaa cacttgaaat tgagagactg aagaaacgtc tccaacaatt ggaagtggtc
     2341 gaaggggatt tgatgaagac agaagatgag tatgatcagc tggaacagaa atttagaact
     2401 gagcaggata aggctaactt cctctctcaa caactagagg agatcaagca ccaaattgcc
     2461 aagaataaag caatagagaa gggtgaggtt gtgagccagg aagctgaact gagacacaga
     2521 tttcggttgg aagaagctaa aagtcgagac ttaaaagccg aagtacaagc tcttaaagag
     2581 aagattcacg aattaatgaa caaagaagat cagctttctc agctccaggt agattattct
     2641 gtacttcaac aaagatttat ggaagaagaa aataagaaca aaaacatggg gcaggaggtt
     2701 ctcaatctga ccaaagagtt ggagctttcc aagcgctaca gcagagctct taggcccagt
     2761 gtgaatggaa gaagaatggt ggatgttcct gtgacgtcaa ctggagtcca aactgatgca
     2821 gtcagcggtg aagcagcaga ggaagaaacg ccagctgtat tcatacggaa atccttccag
     2881 gaagaaaatc atattatgag taatcttcgg caggtgggat tgaagaaacc cgtggaaaga
     2941 tcttctgttc tagacaggta tcctccagca gcaaatgagc tcactatgag aaagtcttgg
     3001 attccatgga tgagaaagag ggaaaacggc ccctccatca ctcaggagaa agggccccga
     3061 acaaattcca gtccagggca cccaggagag gtagtccttt caccaaagca gggccagccc
     3121 ctgcatattc gagtgacacc agaccacgag aacagcactg cgactttgga gataacaagc
     3181 ccgacatctg aagaattttt ttctagtacc actgtcattc ctaccttagg gaatcagaaa
     3241 ccaagaataa ccattattcc atcaccaaac gttatgcctc aaaaacaaaa aagtggagat
     3301 actactcttg gcccagaacg agccatgtcc ccagtcacaa ttactacatt ttccagagag
     3361 aagactccag aaagtggaag aggcgcattt gcagacaggc ccacatcccc tattcagata
     3421 atgacggtgt ctacatcagc agcaccagct gagattgcag tttctcccga atcccaggaa
     3481 atgcccatgg gacggacaat cctcaaagtc accccagaaa aacagactgt tccaactcca
     3541 gtacggaaat acaactccaa tgccaatatc ataaccacag aggacaataa aattcacatt
     3601 cacttagggt ctcagtttaa acggtcccct gggacttcag gtgaaggagt cagtccagtt
     3661 attactgtcc gaccagtaaa cgtgacagcc gaaaaggagg tttccaccgg cactgtcctt
     3721 cgctctccca ggaatcacct ctcctcacgg cctggtgcaa gcaaagtgac gagcactatc
     3781 accataacac cggtcacaac gtcatctgct cgaggaaccc agtcagtgtc aggacaagac
     3841 gggtcatccc agcggcctac acccacccgc attcctatgt caaaaggtat gaaagcagga
     3901 aagccagtag tggcagcccc aggagcagga aatctgacca aattcgagcc tcgagctgag
     3961 actcagtcta tgaaaataga gctgaagaaa tctgcagcca gcagcaccac ctctctcgga
     4021 ggggggaagg gctgagggca gtggctaagg gggtatgttg tgcagatgct actgctgccg
     4081 tgaaagtgaa ccttcatctg tttgtgccag ttctttacat gtactaattt aagttttaaa
     4141 tattgtgttt ataaaataac caactaataa ccatttgtct ttcccatttt gtgcatttgt
     4201 tttgatgctg gggaacaaaa ttagcaaaac tattgcttgc tgcctagaag ccagggcgtg
     4261 gtttctagtt ccagttttgc ttctagcaag tggacccatc aatagaccca tctgagcctg
     4321 tttcctcatc agttagatgt ggggactcaa tcacacgctc ttcaagtccg gctcccatat
     4381 ttcctaattg caagccaaat ttaatgtacc ttgttccaca ataatttttt attaaaaaaa
     4441 tcctattaca aaataagaca tactttaact attgtcattt gcctctttca catcatgaat
     4501 ttgctttatg tgctggaaaa aacatcacat agctatcaca gggcctggac ctctaaaatt
     4561 ttgcaaaaac aaaaggttct aagatgattt caggaaataa tgtgaacatg taataaaatg
     4621 gaaatgaaat atggaa
//
