LOCUS       NM_004924               4990 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens actinin alpha 4 (ACTN4), transcript variant 1, mRNA.
ACCESSION   NM_004924
VERSION     NM_004924.6
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 4990)
  AUTHORS   Cao,S., Wang,D., Liu,L., Yao,J., Wang,L., Liao,Y., Zhang,J.,
            Zhao,J., Huang,Y. and Hao,Z.
  TITLE     Association of ACTN4 Gene Mutation with Primary Nephrotic Syndrome
            in Children in Guangxi Autonomous Region, China
  JOURNAL   Genet Test Mol Biomarkers 28 (7), 281-288 (2024)
   PUBMED   38949978
  REMARK    GeneRIF: Association of ACTN4 Gene Mutation with Primary Nephrotic
            Syndrome in Children in Guangxi Autonomous Region, China.
REFERENCE   2  (bases 1 to 4990)
  AUTHORS   Alsouri,S., Ambrose,A., Mougios,N., Paglilla,N., Mayr,F., Choi,K.,
            Loeber,J., Chapuy,B., Haeupl,B., Opazo,F., Oellerich,T., Gold,M.
            and Engelke,M.
  TITLE     Actinin-4 controls survival signaling in B cells by limiting the
            lateral mobility of B-cell antigen receptors
  JOURNAL   Eur J Immunol 54 (3), e2350774 (2024)
   PUBMED   38299456
  REMARK    GeneRIF: Actinin-4 controls survival signaling in B cells by
            limiting the lateral mobility of B-cell antigen receptors.
REFERENCE   3  (bases 1 to 4990)
  AUTHORS   Hsu,M.F., Ito,Y., Singh,J.P., Hsu,S.F., Wells,A., Jen,K.Y.,
            Meng,T.C. and Haj,F.G.
  TITLE     Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in
            the glomerular podocyte
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (1), 119590 (2024)
   PUBMED   37730132
  REMARK    GeneRIF: Protein tyrosine phosphatase 1B is a regulator of
            alpha-actinin4 in the glomerular podocyte.
REFERENCE   4  (bases 1 to 4990)
  AUTHORS   Cheng,M., Cao,H., Yao,P., Guan,J., Wu,P., Ji,H., Jiang,S., Yuan,Y.,
            Fu,L., Zheng,Q. and Li,Q.
  TITLE     PHF23 promotes NSCLC proliferation, metastasis, and chemoresistance
            via stabilization of ACTN4 and activation of the ERK pathway
  JOURNAL   Cell Death Dis 14 (8), 558 (2023)
   PUBMED   37626047
  REMARK    GeneRIF: PHF23 promotes NSCLC proliferation, metastasis, and
            chemoresistance via stabilization of ACTN4 and activation of the
            ERK pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4990)
  AUTHORS   Al-Azzawy,M.F., Al-Haggar,M., ElSaid,A.M. and El-Khawaga,O.Y.
  TITLE     Analysis of the association of NPHS2 and ACTN4 genes polymorphism
            with nephrotic syndrome in Egyptian children
  JOURNAL   Mol Biol Rep 50 (5), 4481-4490 (2023)
   PUBMED   37014572
  REMARK    GeneRIF: Analysis of the association of NPHS2 and ACTN4 genes
            polymorphism with nephrotic syndrome in Egyptian children.
REFERENCE   6  (bases 1 to 4990)
  AUTHORS   Mathis,B.J., Kim,S.H., Calabrese,K., Haas,M., Seidman,J.G.,
            Seidman,C.E. and Pollak,M.R.
  TITLE     A locus for inherited focal segmental glomerulosclerosis maps to
            chromosome 19q13
  JOURNAL   Kidney Int 53 (2), 282-286 (1998)
   PUBMED   9461087
REFERENCE   7  (bases 1 to 4990)
  AUTHORS   Pavalko,F.M. and LaRoche,S.M.
  TITLE     Activation of human neutrophils induces an interaction between the
            integrin beta 2-subunit (CD18) and the actin binding protein
            alpha-actinin
  JOURNAL   J Immunol 151 (7), 3795-3807 (1993)
   PUBMED   8104223
REFERENCE   8  (bases 1 to 4990)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (bases 1 to 4990)
  AUTHORS   Yuruker,B. and Niggli,V.
  TITLE     Alpha-actinin and vinculin in human neutrophils: reorganization
            during adhesion and relation to the actin network
  JOURNAL   J Cell Sci 101 (Pt 2), 403-414 (1992)
   PUBMED   1629252
REFERENCE   10 (bases 1 to 4990)
  AUTHORS   Otey,C.A., Pavalko,F.M. and Burridge,K.
  TITLE     An interaction between alpha-actinin and the beta 1 integrin
            subunit in vitro
  JOURNAL   J Cell Biol 111 (2), 721-729 (1990)
   PUBMED   2116421
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY048627.1, BC005033.1,
            BM841805.1, R66605.1 and AC022144.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004924.5.
            
            Summary:  Alpha actinins belong to the spectrin gene superfamily
            which represents a diverse group of cytoskeletal proteins,
            including the alpha and beta spectrins and dystrophins.  Alpha
            actinin is an actin-binding protein with multiple roles in
            different cell types.  In nonmuscle cells, the cytoskeletal isoform
            is found along microfilament bundles and adherens-type junctions,
            where it is involved in binding actin to the membrane.  In
            contrast, skeletal, cardiac, and smooth muscle isoforms are
            localized to the Z-disc and analogous dense bodies, where they help
            anchor the myofibrillar actin filaments.  This gene encodes a
            nonmuscle, alpha actinin isoform which is concentrated in the
            cytoplasm, and thought to be involved in metastatic processes.
            Mutations in this gene have been associated with focal and
            segmental glomerulosclerosis. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC005033.1, SRR1660807.193365.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252699.7/ ENSP00000252699.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                HY048627.1         35-118
            85-3554             BC005033.1         1-3470
            3555-3932           BM841805.1         9-386
            3933-3933           R66605.1           7-7                 c
            3934-4990           AC022144.8         73690-74746         c
FEATURES             Location/Qualifiers
     source          1..4990
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..4990
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /note="actinin alpha 4"
                     /db_xref="GeneID:81"
                     /db_xref="HGNC:HGNC:166"
                     /db_xref="MIM:604638"
     exon            1..259
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..2833
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /note="isoform 1 is encoded by transcript variant 1; focal
                     segmental glomerulosclerosis 1; non-muscle alpha-actinin
                     4"
                     /codon_start=1
                     /product="alpha-actinin-4 isoform 1"
                     /protein_id="NP_004915.2"
                     /db_xref="CCDS:CCDS12518.1"
                     /db_xref="GeneID:81"
                     /db_xref="HGNC:HGNC:166"
                     /db_xref="MIM:604638"
                     /translation="MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLL
                     DPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERG
                     KMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISV
                     EETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKD
                     DPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAET
                     AANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLED
                     FRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQ
                     AEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIK
                     ALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSL
                     THSRREALEKTEKQLEAIDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGL
                     ISAHDQFKSTLPDADREREAILAIHKEAQRIAESNHIKLSGSNPYTTVTPQIINSKWE
                     KVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRISIEMNGT
                     LEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLL
                     TTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLG
                     YDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETTDTDTADQVIASFKVLA
                     GDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKSFSTALYGESDL"
     exon            260..374
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            375..494
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            495..581
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            582..669
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            670..748
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            749..830
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            831..916
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1009
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1240
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1388
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1539
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1648
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1789
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1790..1972
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1973..2107
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2287
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            2288..2434
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            2435..2515
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            2516..2674
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     exon            2675..4990
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3904..3909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /note="hexamer: AATAAA"
     polyA_site      3932
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /note="major polyA site"
     regulatory      4969..4974
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
                     /note="hexamer: AATATA"
     polyA_site      4990
                     /gene="ACTN4"
                     /gene_synonym="ACTININ-4; FSGS; FSGS1"
ORIGIN      
        1 gaagcagctg aagcggcggt agcggcggcg gctcgggcag aggggcggga gctgaggcgg
       61 gagcggacag gctggtgggc gagcgagagg cggcggaatg gtggactacc acgcggcgaa
      121 ccagtcgtac cagtacggcc ccagcagcgc gggcaatggc gctggcggcg ggggcagcat
      181 gggcgactac atggcccagg aggacgactg ggaccgggac ctgctgctgg acccggcctg
      241 ggagaagcag cagcgcaaga ccttcacggc atggtgcaac tcccacctgc ggaaggcagg
      301 cacacagatc gagaacattg atgaggactt ccgagacggg ctcaagctca tgctgctcct
      361 ggaggtcata tcaggggagc ggttacctaa gccggagcgg gggaagatga gagtgcacaa
      421 aatcaacaat gtgaacaaag cgctggactt tattgccagc aaaggcgtca agctggtctc
      481 catcggggca gaagagattg tggacggcaa cgcaaagatg accctgggaa tgatctggac
      541 catcatcctt aggttcgcca tccaggacat ctccgtggaa gagacctcgg ccaaggaagg
      601 gctccttctc tggtgccaga gaaagacagc cccgtataag aacgtcaatg tgcagaactt
      661 ccacatcagc tggaaggatg gtcttgcctt caatgccctg atccaccggc acagaccaga
      721 gctgattgag tatgacaagc tgaggaagga cgaccctgtc accaacctga acaatgcctt
      781 cgaagtggct gagaaatacc tcgacatccc caagatgctg gatgcagagg acatcgtgaa
      841 cacggcccgg cccgacgaga aggccataat gacctatgtg tccagcttct accatgcctt
      901 ttcaggagcg cagaaggctg aaactgccgc caaccggatc tgtaaggtgc tggctgtcaa
      961 ccaagagaac gagcacctga tggaggacta cgagaagctg gccagcgacc tcctggagtg
     1021 gatccggcgc accatcccct ggctggagga ccgtgtgccc caaaagacta tccaggagat
     1081 gcagcagaag ctggaggact tccgcgacta ccggcgtgtg cacaagccgc ccaaggtgca
     1141 ggagaagtgc cagctggaga tcaacttcaa cacgctgcag accaagctgc gcctcagcaa
     1201 ccggcccgcc ttcatgccct ccgagggcaa gatggtctcg gacatcaaca atggctggca
     1261 gcacttggag caggctgaga agggctacga ggagtggctg ctgaatgaga tccgcaggct
     1321 ggagcggctc gaccacctgg cagagaagtt ccggcagaag gcctccatcc acgaggcctg
     1381 gactgacggg aaggaagcca tgctgaagca ccgggactac gagacggcca cactatcgga
     1441 catcaaagcc ctcattcgca agcacgaggc cttcgagagc gacctggctg cgcaccagga
     1501 ccgcgtggag cagatcgccg ccattgccca ggagctcaac gagctggatt actacgactc
     1561 ccacaatgtc aacacccggt gccagaagat ctgtgaccag tgggacgccc tcggctctct
     1621 gacacatagt cgcagggaag ccctggagaa aacagagaag cagctggagg ccatcgacca
     1681 gctgcacctg gaatacgcca agcgcgcggc ccccttcaac aactggatgg agagcgccat
     1741 ggaggacctc caggacatgt tcatcgtcca taccatcgag gagattgagg gcctgatctc
     1801 agcccatgac cagttcaagt ccaccctgcc ggacgccgat agggagcgcg aggccatcct
     1861 ggccatccac aaggaggccc agaggatcgc tgagagcaac cacatcaagc tgtcgggcag
     1921 caacccctac accaccgtca ccccgcaaat catcaactcc aagtgggaga aggtgcagca
     1981 gctggtgcca aaacgggacc atgccctcct ggaggagcag agcaagcagc agtccaacga
     2041 gcacctgcgc cgccagttcg ccagccaggc caatgttgtg gggccctgga tccagaccaa
     2101 gatggaggag atcgggcgca tctccattga gatgaacggg accctggagg accagctgag
     2161 ccacctgaag cagtatgaac gcagcatcgt ggactacaag cccaacctgg acctgctgga
     2221 gcagcagcac cagctcatcc aggaggccct catcttcgac aacaagcaca ccaactatac
     2281 catggagcac atccgcgtgg gctgggagca gctgctcacc accattgccc gcaccatcaa
     2341 cgaggtggag aaccagatcc tcacccgcga cgccaagggc atcagccagg agcagatgca
     2401 ggagttccgg gcgtccttca accacttcga caaggatcat ggcggggcgc tggggcccga
     2461 ggagttcaag gcctgcctca tcagcctggg ctacgacgtg gagaacgacc ggcagggtga
     2521 ggccgagttc aaccgcatca tgagcctggt cgaccccaac catagcggcc ttgtgacctt
     2581 ccaagccttc atcgacttca tgtcgcggga gaccaccgac acggacacgg ctgaccaggt
     2641 catcgcttcc ttcaaggtct tagcagggga caagaacttc atcacagctg aggagctgcg
     2701 gagagagctg ccccccgacc aggccgagta ctgcatcgcc cgcatggcgc cataccaggg
     2761 ccctgacgcc gtgcccggtg ccctcgacta caagtccttc tccacggcct tgtatggcga
     2821 gagcgacctg tgaggcccca gagacctgac ccaacacccc cgacggcctc caggaggggc
     2881 ctgggcagcc ccacagtccc attcctccac tctgtatcta tgcaaagcac tctctgcagt
     2941 cctccggggt gggtgggtgg gcagggaggg gctggggcag gctctctcct ctctctcttt
     3001 gtgggttggc caggaggttc ccccgaccag gttggggaga cttggggcca gcgcttctgg
     3061 tctggtaaat atgtatgatg tgttgtgctt ttttaaccaa ggaggggcca gtggattccc
     3121 acagcacaac cggtcccttc catgccctgg gatgcctcac cacacccagg tctcttcctt
     3181 tgctctgagg tcccttcaag gcctccccaa tccaggccaa agccccatgt gccttgtcca
     3241 ggaactgcct gggccatgcg aggggccagc agagggcgcc accaccacct gacggctggg
     3301 gacccaccca gcccctctcc cctctctgct ccagactcac ttgccattgc caggagatgg
     3361 ccccaacaag caccccgctt ttgcagcaga ggagctgagt tggcagaccg ggcccccctg
     3421 aaccgcaccc catcccacca gccccggcct tgctttgtct ggcctcacgt gtctcagatt
     3481 ttctaagaac caaaaaaaaa aaaggaaaaa aaacacaaaa caacaaaaac caaaaaaaaa
     3541 aaaaatcaca aaaacaaaaa aactataaaa aagaaagaat taaaaacttt cagagaatta
     3601 ctatttactt tattaactta cggatttatt atataaatat atattcacct agcaacatat
     3661 ctctgccgtc tctcctgctc tcataatgaa gacatagccg attctctgcc cgggcccctt
     3721 gctgatgctc ctccgggtct gcgtcgggcg tgggtctctg gggaccctcc agaggtggag
     3781 gtgggctgat ggcctggctg cctggtggtt gatggttttg ctccccctac cttttttttt
     3841 tgagtttatt ctgattgatt ttttttcttg gtttctggat aaaccaccct ctggggacag
     3901 gataataaaa catgtaatat ttttaagaag gattcctgca gcatcatctt tttttatttc
     3961 tcctgtgtct gtcctccacc ttctaggaga gccagggcag agctagcact gtcttaagct
     4021 gtcaacgtgg actagctcgt gtcatctgct cgagaagggc tgtcgctgtt cttgtttctg
     4081 agtgaggagt acgcaggcca gagtggtcac ccggccgtga gcagtgaggg ccagagacta
     4141 gccccagaca ggtggatgcc agagagagtg gcacccatgc caggcaaggc ctagggaggt
     4201 ggtcttgctc agcaaccctg ccctgagcag caggtgcgcc catccggaga tcctaggaga
     4261 aggtggccac ctccatccac taaggaagag aaggaagaca gtggcttgag gcagggagct
     4321 cgcaggacag agcctgagcc accctgtccc tcccacctgg ctcacctgtc tgtgggtcag
     4381 gcagatgacc ccctcacccc catccaggtg ctggctgcag tggcctgtgc agagaggggc
     4441 agggtgagtg cccaccagtc cccgtacccc ttccccccat gccccaccat gccggggtgg
     4501 tactcacaga agatgcaggt gaggtgggcc acacaggaca cgaaccgctc gaagtccaca
     4561 cgcagacggc tatcccggta gcggctggtg agggtctggg tcagctggtt gttcaggtgg
     4621 aagcctaggg ggaggctgct tctgagccca gtggcccaca gggaacccac cttggcattg
     4681 catccccacc ccacctcctc agggaggaca tgaatgccac agggtgtcac accccaactc
     4741 tgccccatcc cggcagggtg agtacaggct gatcccttca atcctctggg cctgtttcct
     4801 catccatcaa acggactaag acagccccga ccccataggg tgtgtgaaga cagaacgctc
     4861 aggacagcgt ctgacacgtg actcgatgtg tgggtactgt tactccttaa atcctgtggg
     4921 gctttctcct tgccagtggg cactggagga tatttctgtg cagcaaaaaa tatagtcaat
     4981 cccatatgga
//
