LOCUS BC015620 2586 bp mRNA linear HUM 16-SEP-2003 DEFINITION Homo sapiens actinin, alpha 4, mRNA (cDNA clone IMAGE:4843317), partial cds. ACCESSION BC015620 VERSION BC015620.2 KEYWORDS . 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 2586) AUTHORS Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A. TITLE Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002) PUBMED 12477932 REFERENCE 2 (bases 1 to 2586) AUTHORS Strausberg,R. TITLE Direct Submission JOURNAL Submitted (04-OCT-2001) National Institutes of Health, Mammalian Gene Collection (MGC), Cancer Genomics Office, National Cancer Institute, 31 Center Drive, Room 11A03, Bethesda, MD 20892-2590, USA REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov COMMENT On Aug 19, 2003 this sequence version replaced BC015620.1. Contact: MGC help desk Email: cgapbs-r@mail.nih.gov Tissue Procurement: ATCC cDNA Library Preparation: Rubin Laboratory cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: National Institutes of Health Intramural Sequencing Center (NISC), Gaithersburg, Maryland; Web site: http://www.nisc.nih.gov/ Contact: nisc_mgc@nhgri.nih.gov Akhter,N., Ayele,K., Beckstrom-Sternberg,S.M., Benjamin,B., Blakesley,R.W., Bouffard,G.G., Breen,K., Brinkley,C., Brooks,S., Dietrich,N.L., Granite,S., Guan,X., Gupta,J., Haghighi,P., Hansen,N., Ho,S.-L., Karlins,E., Kwong,P., Laric,P., Legaspi,R., Maduro,Q.L., Masiello,C., Maskeri,B., Mastrian,S.D.,McCloskey,J.C., McDowell,J., Pearson,R., Stantripop,S., Thomas,P.J., Touchman,J.W., Tsurgeon,C., Vogt,J.L., Walker,M.A., Wetherby,K.D., Wiggins,L., Young,A., Zhang,L.-H. and Green,E.D. Clone distribution: MGC clone distribution information can be found through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov Series: IRAL Plate: 33 Row: o Column: 3. FEATURES Location/Qualifiers source 1..2586 /db_xref="H-InvDB:HIT000088751" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="IMAGE:4843317" /tissue_type="Eye, normal, pigmented retinal epithelium" /clone_lib="NIH_MGC_43" /lab_host="DH10B-R" /note="Vector: pOTB7" gene <1..2586 /gene="ACTN4" /gene_synonym="FSGS" /gene_synonym="FSGS1" /db_xref="GeneID:81" /db_xref="MIM:604638" CDS <1..1906 /gene="ACTN4" /gene_synonym="FSGS" /gene_synonym="FSGS1" /codon_start=2 /product="ACTN4 protein" /protein_id="AAH15620.2" /db_xref="GeneID:81" /db_xref="MIM:604638" /translation="ANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVP QKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKM VSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLK HRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRC QKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQD MFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPY TTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKM EEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNY TMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGAL GPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTD TADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSF STALYGESDL" misc_feature 47..379 /gene="ACTN4" /gene_synonym="FSGS" /gene_synonym="FSGS1" /note="spectrin; Region: Spectrin repeat. Spectrin repeats are found in several proteins involved in cytoskeletal structure. These include spectrin, alpha-actinin and dystrophin. The sequence repeat used in this family is taken from the structural repeat in reference. The spectrin repeat forms a three helix bundle. The second helix is interrupted by proline in some sequences. The repeats are defined by a characteristic tryptophan (W) residue at position 17 in helix A and a leucine (L) at 2 residues from the carboxyl end of helix C" /db_xref="CDD:pfam00435" misc_feature 407..721 /gene="ACTN4" /gene_synonym="FSGS" /gene_synonym="FSGS1" /note="spectrin; Region: Spectrin repeat. Spectrin repeats are found in several proteins involved in cytoskeletal structure. These include spectrin, alpha-actinin and dystrophin. The sequence repeat used in this family is taken from the structural repeat in reference. The spectrin repeat forms a three helix bundle. The second helix is interrupted by proline in some sequences. The repeats are defined by a characteristic tryptophan (W) residue at position 17 in helix A and a leucine (L) at 2 residues from the carboxyl end of helix C" /db_xref="CDD:pfam00435" misc_feature 1454..1783 /gene="ACTN4" /gene_synonym="FSGS" /gene_synonym="FSGS1" /note="FRQ1; Region: COG5126, FRQ1, Ca2+-binding protein (EF-Hand superfamily) [Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only]" /db_xref="CDD:COG5126" BASE COUNT 597 a 840 c 741 g 408 t ORIGIN 1 cgccaaccgg atctgtaagg tgctggctgt caaccaagag aacgagcacc tgatggagga 61 ctacgagaag ctggccagcg acctcctgga gtggatccgg cgcaccatcc cctggctgga 121 ggaccgtgtg ccccaaaaga ctatccagga gatgcagcag aagctggagg acttccgcga 181 ctaccggcgt gtgcacaagc cgcccaaggt gcaggagaag tgccagctgg agatcaactt 241 caacacgctg cagaccaagc tgcgcctcag caaccggccc gccttcatgc cctccgaggg 301 caagatggtc tcggacatca acaatggctg gcagcacttg gagcaggctg agaagggcta 361 cgaggagtgg ctgctgaatg agatccgcag gctggagcgg ctcgaccacc tggcagagaa 421 gttccggcag aaggcctcca tccacgaggc ctggactgac gggaaggaag ccatgctgaa 481 gcaccgggac tacgagacgg ccacactatc ggacatcaaa gccctcattc gcaagcacga 541 ggccttcgag agcgacctgg ctgcgcacca ggaccgcgtg gagcagatcg ccgccattgc 601 ccaggagctc aacgagctgg attactacga ctcccacaat gtcaacaccc ggtgccagaa 661 gatctgtgac cagtgggacg ccctcggctc tctgacacat agtcgcaggg aagccctgga 721 gaaaacagag aagcagctgg aggccatcga ccagctgcac ctggaatacg ccaagcgcgc 781 ggcccccttc aacaactgga tggagagcgc catggaggac ctccaggaca tgttcatcgt 841 ccataccatc gaggagattg agggcctgat ctcagcccat gaccagttca agtccaccct 901 gccggacgcc gatagggagc gcgaggccat cctggccatc cacaaggagg cccagaggat 961 cgctgagagc aaccacatca agctgtcggg cagcaacccc tacaccaccg tcaccccgca 1021 aatcatcaac tccaagtggg agaaggtgca gcagctggtg ccaaaacggg accatgccct 1081 cctggaggag cagagcaagc agcagtccaa cgagcacctg cgccgccagt tcgccagcca 1141 ggccaatgtt gtggggccct ggatccagac caagatggag gagatcgggc gcatctccat 1201 tgagatgaac gggaccctgg aggaccagct gagccacctg aagcagtatg aacgcagcat 1261 cgtggactac aagcccaacc tggacctgct ggagcagcag caccagctca tccaggaggc 1321 cctcatcttc gacaacaagc acaccaacta taccatggag cacatccgcg tgggctggga 1381 gcagctgctc accaccattg cccgcaccat caacgaggtg gagaaccaga tcctcacccg 1441 cgacgccaag ggcatcagcc aggagcagat gcaggagttc cgggcgtcct tcaaccactt 1501 cgacaaggat catggcgggg cgctggggcc cgaggagttc aaggcctgcc tcatcagcct 1561 gggctacgac gtggagaacg accggcaggg tgaggccgag ttcaaccgca tcatgagcct 1621 ggtcgacccc aaccatagcg gccttgtgac cttccaagcc ttcatcgact tcatgtcgcg 1681 ggagaccacc gacacggaca cggctgacca ggtcatcgct tccttcaagg tcctagcagg 1741 ggacaagaac ttcatcacag ctgaggagct gcggagagag ctgccccccg accaggccga 1801 gtactgcatc gcccgcatgg cgccatacca gggccctgac gccgtgcccg gtgccctcga 1861 ctacaagtcc ttctccacgg ccttgtatgg cgagagcgac ctgtgaggcc ccagagacct 1921 gacccaacac ccccgacggc ctccaggagg ggcctgggca gccccacagt cccattcctc 1981 cactctgtat ctatgcaaag cactctctgc agtcctccgg ggtgggtggg tgggcaggga 2041 ggggctgggg caggctctct cctctctctc tttgtgggtt ggccaggagg ttcccccgac 2101 caggttgggg agacttgggg ccagcgcttc tggtctggta aatatgtatg atgtgttgtg 2161 cttttttaac caaggagggg ccagtggatt cccacagcac aaccggtccc ttccatgccc 2221 tgggatgcct caccacaccc aggtctcttc ctttgctctg aggtcccttc aaggcctccc 2281 caatccaggc caaagcccca tgtgccttgt ccaggaactg cctgggccat gcgaggggcc 2341 agcagagggc gccaccacca cctgacggct ggggacccac ccagcccctc tcccctctct 2401 gctccagact cacttgccat tgccaggaga tggccccaac aagcaccccg cttttgcagc 2461 agaggagctg agttggcaga ccgggccccc ctgaaccgca ccccatccca ccagccccgg 2521 ccttgctttg tctggcctca cgtgtctcag attttctaag aaccaaaaaa aaaaaaaaaa 2581 aaaaaa //