LOCUS       NM_001365156            2487 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens refilin A (RFLNA), transcript variant 1, mRNA.
ACCESSION   NM_001365156
VERSION     NM_001365156.1
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 2487)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2487)
  AUTHORS   Shimizu,H., Watanabe,S., Kinoshita,A., Mishima,H., Nishimura,G.,
            Moriuchi,H., Yoshiura,K.I. and Dateki,S.
  TITLE     Identification of a homozygous frameshift variant in RFLNA in a
            patient with a typical phenotype of spondylocarpotarsal synostosis
            syndrome
  JOURNAL   J Hum Genet 64 (5), 467-471 (2019)
   PUBMED   30796325
  REMARK    GeneRIF: The present study implies that RFLNA is an additional
            causative gene for spondylocarpotarsal synostosis syndrome in
            humans and a defect in forming actin bundles and perinuclear actin
            caps may be a critical mechanism for the development of
            spondylocarpotarsal synostosis syndrome.
REFERENCE   3  (bases 1 to 2487)
  AUTHORS   Mizuhashi,K., Kanamoto,T., Moriishi,T., Muranishi,Y., Miyazaki,T.,
            Terada,K., Omori,Y., Ito,M., Komori,T. and Furukawa,T.
  TITLE     Filamin-interacting proteins, Cfm1 and Cfm2, are essential for the
            formation of cartilaginous skeletal elements
  JOURNAL   Hum Mol Genet 23 (11), 2953-2967 (2014)
   PUBMED   24436304
REFERENCE   4  (bases 1 to 2487)
  AUTHORS   Kim,J.C., Ha,Y.J., Roh,S.A., Cho,D.H., Choi,E.Y., Kim,T.W.,
            Kim,J.H., Kang,T.W., Kim,S.Y. and Kim,Y.S.
  TITLE     Novel single-nucleotide polymorphism markers predictive of
            pathologic response to preoperative chemoradiation therapy in
            rectal cancer patients
  JOURNAL   Int J Radiat Oncol Biol Phys 86 (2), 350-357 (2013)
   PUBMED   23490283
  REMARK    GeneRIF: The candidate marker CORO2A rs1985859 and the putative
            marker FAM101A rs7955740 may be of value for the prediction of
            radiosensitivity to preoperative colorectal tumors.
REFERENCE   5  (bases 1 to 2487)
  AUTHORS   Gay,O., Gilquin,B., Nakamura,F., Jenkins,Z.A., McCartney,R.,
            Krakow,D., Deshiere,A., Assard,N., Hartwig,J.H., Robertson,S.P. and
            Baudier,J.
  TITLE     RefilinB (FAM101B) targets filamin A to organize perinuclear actin
            networks and regulates nuclear shape
  JOURNAL   Proc Natl Acad Sci U S A 108 (28), 11464-11469 (2011)
   PUBMED   21709252
REFERENCE   6  (bases 1 to 2487)
  AUTHORS   Scherer,S.E., Muzny,D.M., Buhay,C.J., Chen,R., Cree,A., Ding,Y.,
            Dugan-Rocha,S., Gill,R., Gunaratne,P., Harris,R.A., Hawes,A.C.,
            Hernandez,J., Hodgson,A.V., Hume,J., Jackson,A., Khan,Z.M.,
            Kovar-Smith,C., Lewis,L.R., Lozado,R.J., Metzker,M.L.,
            Milosavljevic,A., Miner,G.R., Montgomery,K.T., Morgan,M.B.,
            Nazareth,L.V., Scott,G., Sodergren,E., Song,X.Z., Steffen,D.,
            Lovering,R.C., Wheeler,D.A., Worley,K.C., Yuan,Y., Zhang,Z.,
            Adams,C.Q., Ansari-Lari,M.A., Ayele,M., Brown,M.J., Chen,G.,
            Chen,Z., Clerc-Blankenburg,K.P., Davis,C., Delgado,O., Dinh,H.H.,
            Draper,H., Gonzalez-Garay,M.L., Havlak,P., Jackson,L.R.,
            Jacob,L.S., Kelly,S.H., Li,L., Li,Z., Liu,J., Liu,W., Lu,J.,
            Maheshwari,M., Nguyen,B.V., Okwuonu,G.O., Pasternak,S., Perez,L.M.,
            Plopper,F.J., Santibanez,J., Shen,H., Tabor,P.E., Verduzco,D.,
            Waldron,L., Wang,Q., Williams,G.A., Zhang,J., Zhou,J., Allen,C.C.,
            Amin,A.G., Anyalebechi,V., Bailey,M., Barbaria,J.A., Bimage,K.E.,
            Bryant,N.P., Burch,P.E., Burkett,C.E., Burrell,K.L., Calderon,E.,
            Cardenas,V., Carter,K., Casias,K., Cavazos,I., Cavazos,S.R.,
            Ceasar,H., Chacko,J., Chan,S.N., Chavez,D., Christopoulos,C.,
            Chu,J., Cockrell,R., Cox,C.D., Dang,M., Dathorne,S.R., David,R.,
            Davis,C.M., Davy-Carroll,L., Deshazo,D.R., Donlin,J.E., D'Souza,L.,
            Eaves,K.A., Simons,R., Emery-Cohen,A.J., Escotto,M., Flagg,N.,
            Forbes,L.D., Gabisi,A.M., Garza,M., Hamilton,C., Henderson,N.,
            Hernandez,O., Hines,S., Hogues,M.E., Huang,M., Idlebird,D.G.,
            Johnson,R., Jolivet,A., Jones,S., Kagan,R., King,L.M., Leal,B.,
            Lebow,H., Lee,S., LeVan,J.M., Lewis,L.C., London,P.,
            Lorensuhewa,L.M., Loulseged,H., Lovett,D.A., Lucier,A.,
            Lucier,R.L., Ma,J., Madu,R.C., Mapua,P., Martindale,A.D.,
            Martinez,E., Massey,E., Mawhiney,S., Meador,M.G., Mendez,S.,
            Mercado,C., Mercado,I.C., Merritt,C.E., Miner,Z.L., Minja,E.,
            Mitchell,T., Mohabbat,F., Mohabbat,K., Montgomery,B., Moore,N.,
            Morris,S., Munidasa,M., Ngo,R.N., Nguyen,N.B., Nickerson,E.,
            Nwaokelemeh,O.O., Nwokenkwo,S., Obregon,M., Oguh,M., Oragunye,N.,
            Oviedo,R.J., Parish,B.J., Parker,D.N., Parrish,J., Parks,K.L.,
            Paul,H.A., Payton,B.A., Perez,A., Perrin,W., Pickens,A.,
            Primus,E.L., Pu,L.L., Puazo,M., Quiles,M.M., Quiroz,J.B.,
            Rabata,D., Reeves,K., Ruiz,S.J., Shao,H., Sisson,I., Sonaike,T.,
            Sorelle,R.P., Sutton,A.E., Svatek,A.F., Svetz,L.A., Tamerisa,K.S.,
            Taylor,T.R., Teague,B., Thomas,N., Thorn,R.D., Trejos,Z.Y.,
            Trevino,B.K., Ukegbu,O.N., Urban,J.B., Vasquez,L.I., Vera,V.A.,
            Villasana,D.M., Wang,L., Ward-Moore,S., Warren,J.T., Wei,X.,
            White,F., Williamson,A.L., Wleczyk,R., Wooden,H.S., Wooden,S.H.,
            Yen,J., Yoon,L., Yoon,V., Zorrilla,S.E., Nelson,D.,
            Kucherlapati,R., Weinstock,G. and Gibbs,R.A.
  CONSRTM   Baylor College of Medicine Human Genome Sequencing Center Sequence
            Production Team
  TITLE     The finished DNA sequence of human chromosome 12
  JOURNAL   Nature 440 (7082), 346-351 (2006)
   PUBMED   16541075
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073916.41, BC042102.1, AK126577.1 and BC026875.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC042102.1, SRR3476690.987446.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000546355.4/ ENSP00000444080.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-430               AC073916.41        10352-10781
            431-1332            BC042102.1         1-902
            1333-2485           AK126577.1         996-2148
            2486-2487           BC026875.1         880-881
FEATURES             Location/Qualifiers
     source          1..2487
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..2487
                     /gene="RFLNA"
                     /gene_synonym="CFM2; FAM101A"
                     /note="refilin A"
                     /db_xref="GeneID:144347"
                     /db_xref="HGNC:HGNC:27051"
                     /db_xref="MIM:615927"
     exon            1..544
                     /gene="RFLNA"
                     /gene_synonym="CFM2; FAM101A"
                     /inference="alignment:Splign:2.1.0"
     CDS             338..988
                     /gene="RFLNA"
                     /gene_synonym="CFM2; FAM101A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM101A; refilinA; regulator of filamin protein A;
                     filamin-interacting protein FAM101A; family with sequence
                     similarity 101, member A"
                     /codon_start=1
                     /product="refilin-A isoform 1"
                     /protein_id="NP_001352085.1"
                     /db_xref="CCDS:CCDS91768.1"
                     /db_xref="GeneID:144347"
                     /db_xref="HGNC:HGNC:27051"
                     /db_xref="MIM:615927"
                     /translation="MVGHLHLQGMEDSLKEQGREGLLDSPDSGLPPSPSPSPPFYSLA
                     PGILDARAGGAGASSEPPGPSEARAPPSQLPNPPASEMRPRMLPVFFGESIKVNPEPT
                     HEIRCNSEVKYASEKHFQDKVFYAPVPTVTAYSETIVAAPNCTWRNYRSQLTLEPRPR
                     ALRFRSTTIIFPKHARSTFRTTLHCSLGRPSRWFTASVQLQLCQDPAPSLLGPATL"
     exon            545..654
                     /gene="RFLNA"
                     /gene_synonym="CFM2; FAM101A"
                     /inference="alignment:Splign:2.1.0"
     exon            655..2487
                     /gene="RFLNA"
                     /gene_synonym="CFM2; FAM101A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2468..2473
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFLNA"
                     /gene_synonym="CFM2; FAM101A"
                     /note="hexamer: AATAAA"
     polyA_site      2487
                     /gene="RFLNA"
                     /gene_synonym="CFM2; FAM101A"
                     /note="major polyA site"
ORIGIN      
        1 ggagagggcc gggcggcaac gtgcgcctcg gggctgggcc ggcctgcggg atcgcagcgc
       61 agcgcagagg cgaggctggg cccggcgggc gggagccgcg gagggcggag ggcggagggc
      121 ggcggcgctg gcaggagcgc ggcccacggc ggcgagcagg ctgcaggccc gcggggatcc
      181 ggggcgcggg gggcgccggg cctgatcgcc gcctctcgcg gtgcccgcag gtccccgggc
      241 gcgcagctct cgccccgccg ccgcctgccc cgggccccgg agcgcggtgg agaagccccc
      301 ggaggagcgg ggggcccgcg ccccgcgccc cccagacatg gtgggccacc tgcatctgca
      361 gggcatggag gacagcctga aggagcaggg ccgggagggc ttgctggaca gccccgactc
      421 cgggctgccc cccagcccca gccccagccc gcccttctac tccctggcgc ccggcatcct
      481 cgacgcgcgc gcggggggcg ccggcgcctc ctcggagccc ccgggaccca gcgaggccag
      541 agcgcccccc tcccaactcc caaatccccc ggcgtcggag atgaggcccc ggatgctgcc
      601 agtgttcttt ggggagagca tcaaggtgaa cccggaaccc acgcatgaga tccgctgcaa
      661 ctctgaggtc aagtacgcct cggagaagca tttccaggac aaggtcttct atgcgcccgt
      721 acccaccgtc acggcctaca gcgagaccat cgtggcagca cccaactgca cgtggcgcaa
      781 ctaccgcagc cagctgaccc tggagccacg cccgcgcgcc ctgcgcttcc gcagcaccac
      841 catcatcttc cccaagcatg ccaggagcac tttccggacc accctgcact gcagcctggg
      901 ccggcccagc cgctggttca ccgccagcgt gcagctgcag ctttgccagg accctgcccc
      961 cagcctcctg ggccctgcca cgctctgacg gggctggggc cggcccgggg tgctggagga
     1021 gccgggagcc ctggggagaa gccgggagga tggacacgat gagctcggcc tggcactcgg
     1081 gcaggaggcg ggaagggagg ctgccagacc aaggacccgt gtggaaggag gcggctcccc
     1141 gctgcctgcc ctgacctaca ggctaggtgg tggtctcctt gttttggtgt caaggactca
     1201 gtaaaagcat ctattttttt agcacttaag ctggcaaggc ggtaggggca tgcactgtta
     1261 ggtggtggcc acccccaggg tcaggggaaa agaatgggtc catggagtgc ccttgaagca
     1321 gagaacagcc ccgagcagtg tgaggacaga ggcatcccag cctcagccgg tggggacggc
     1381 tgccactccc ccagagccct gccaccccat gtgtcctagg ctggtggcca aggccatgtg
     1441 tgagggaaga ggggtacctc tcttccctgc tgctggcctg gggtatttcc aaaacagcct
     1501 tttcgcacac atgcaggttg caccgagagg tctggagctg tggctgagcc acctctggcg
     1561 gatgttgagc caggaggttg ggcaaaggcc ggatgctgat gccagcgctg gaggtggtga
     1621 tactgggggc ggggaaggcc tagaaatact ttgagccatg gccttgccag tgtcccgtgc
     1681 cctccagtgt caaagatttg gggcactgcc cgtcgaaatg gaaaggttgg tgctcagcct
     1741 ctggagcctc acctgcaggg cgtccccagc taacacccat ccacgcacca cctccaggac
     1801 gagaaccctt gatgtcaaaa ccaagtgccc agtggaggcg gtgaagctct cggaaatgct
     1861 gccacctgtg tgaggccggg tctgaactcg agggagtcgg agctcagctg tcggtttaaa
     1921 gagacactga ggggaccggg ctgccgccct cagcctgcat tcctgtgcgc aatcgattcc
     1981 gcaatgacag caccttactc cttcctgcgg caggctcacc cctgcctgtg ggatgttgtg
     2041 agaggaacat gagccagaca aagacttggc tcagggctcc gtggaacaag ccaggatgca
     2101 cggggagctg ggggagcccc cagcctgggg cagcccagca ggccgctgaa caaacacccc
     2161 agaagccagc actgtggcag ggtgctgggg agatgcccct ctgagccttc ctcccccctc
     2221 agacctgaat gcactccaca gttgggggct gcccctgcca ctcccctggt aatgcataaa
     2281 aggggagggg aaggttccct ggggcttgag ctccctctgt ggaggtgagg aggggagatt
     2341 ccgttcacat ccaggagggg caaaatgact gatgtatttt tatgtatcta cacagagagt
     2401 gcattttctc tccagagatg ctgtctggtt aacaaaggaa taacttaaga aattgattga
     2461 ttatcttaat aaactgtgca aacccaa
//
