LOCUS       NM_001130004            3722 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens actinin alpha 1 (ACTN1), transcript variant 1, mRNA.
ACCESSION   NM_001130004
VERSION     NM_001130004.2
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 3722)
  AUTHORS   Zanchetta,M.E., Barozzi,S., Isidori,F., Marconi,C., Farinasso,L.,
            Bottega,R., Savoia,A., Pecci,A. and Faleschini,M.
  TITLE     ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant
            results in a more severe phenotype
  JOURNAL   Br J Haematol 204 (6), 2453-2457 (2024)
   PUBMED   38594875
  REMARK    GeneRIF: ACTN1-related thrombocytopenia: Homozygosity for an ACTN1
            variant results in a more severe phenotype.
REFERENCE   2  (bases 1 to 3722)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3722)
  AUTHORS   Zhang,S., Wang,J., Chen,T., Wang,J., Wang,Y., Yu,Z., Zhao,K.,
            Zheng,K., Chen,Y., Wang,Z., Li,B., Wang,C., Huang,W., Fu,Z. and
            Chen,J.
  TITLE     alpha-Actinin1 promotes tumorigenesis and epithelial-mesenchymal
            transition of gastric cancer via the AKT/GSK3beta/beta-Catenin
            pathway
  JOURNAL   Bioengineered 12 (1), 5688-5704 (2021)
   PUBMED   34546849
  REMARK    GeneRIF: alpha-Actinin1 promotes tumorigenesis and
            epithelial-mesenchymal transition of gastric cancer via the
            AKT/GSK3beta/beta-Catenin pathway.
REFERENCE   4  (bases 1 to 3722)
  AUTHORS   Kim,J., Shanmugasundaram,A. and Lee,D.W.
  TITLE     Enhancement of cardiac contractility using gold-coated SU-8
            cantilevers and their application to drug-induced cardiac toxicity
            tests
  JOURNAL   Analyst 146 (22), 6768-6779 (2021)
   PUBMED   34642716
  REMARK    GeneRIF: Enhancement of cardiac contractility using gold-coated
            SU-8 cantilevers and their application to drug-induced cardiac
            toxicity tests.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3722)
  AUTHORS   Ladha,F.A., Thakar,K., Pettinato,A.M., Legere,N., Ghahremani,S.,
            Cohn,R., Romano,R., Meredith,E., Chen,Y.S. and Hinson,J.T.
  TITLE     Actinin BioID reveals sarcomere crosstalk with oxidative metabolism
            through interactions with IGF2BP2
  JOURNAL   Cell Rep 36 (6), 109512 (2021)
   PUBMED   34380038
  REMARK    GeneRIF: Actinin BioID reveals sarcomere crosstalk with oxidative
            metabolism through interactions with IGF2BP2.
REFERENCE   6  (bases 1 to 3722)
  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   7  (bases 1 to 3722)
  AUTHORS   Tokuue,Y., Goto,S., Imamura,M., Obinata,T., Masaki,T. and Endo,T.
  TITLE     Transfection of chicken skeletal muscle alpha-actinin cDNA into
            nonmuscle and myogenic cells: dimerization is not essential for
            alpha-actinin to bind to microfilaments
  JOURNAL   Exp Cell Res 197 (2), 158-167 (1991)
   PUBMED   1720388
REFERENCE   8  (bases 1 to 3722)
  AUTHORS   Nishiyama,M., Ozturk,M., Frohlich,M., Mafune,K., Steele,G. Jr. and
            Wands,J.R.
  TITLE     Expression of human alpha-actinin in human hepatocellular carcinoma
  JOURNAL   Cancer Res 50 (19), 6291-6294 (1990)
   PUBMED   2169343
REFERENCE   9  (bases 1 to 3722)
  AUTHORS   Youssoufian,H., McAfee,M. and Kwiatkowski,D.J.
  TITLE     Cloning and chromosomal localization of the human cytoskeletal
            alpha-actinin gene reveals linkage to the beta-spectrin gene
  JOURNAL   Am J Hum Genet 47 (1), 62-72 (1990)
   PUBMED   2349951
REFERENCE   10 (bases 1 to 3722)
  AUTHORS   Millake,D.B., Blanchard,A.D., Patel,B. and Critchley,D.R.
  TITLE     The cDNA sequence of a human placental alpha-actinin
  JOURNAL   Nucleic Acids Res 17 (16), 6725 (1989)
   PUBMED   2780298
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC372566.1, DQ496098.1,
            BC004984.1 and BI494856.1.
            
            On Feb 27, 2020 this sequence version replaced NM_001130004.1.
            
            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,
            cytoskeletal, alpha actinin isoform and maps to the same site as
            the structurally similar erythroid beta spectrin gene. Three
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: DQ496098.1, SRR11853561.9188.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394419.9/ ENSP00000377941.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                DC372566.1         65-127
            64-3465             DQ496098.1         1-3402
            3466-3530           BC004984.1         3374-3438
            3531-3722           BI494856.1         347-538
FEATURES             Location/Qualifiers
     source          1..3722
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.1"
     gene            1..3722
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /note="actinin alpha 1"
                     /db_xref="GeneID:87"
                     /db_xref="HGNC:HGNC:163"
                     /db_xref="MIM:102575"
     exon            1..351
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     CDS             247..2991
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /note="isoform a is encoded by transcript variant 1;
                     F-actin cross-linking protein; actinin 1 smooth muscle;
                     non-muscle alpha-actinin-1; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="alpha-actinin-1 isoform a"
                     /protein_id="NP_001123476.1"
                     /db_xref="CCDS:CCDS45130.1"
                     /db_xref="GeneID:87"
                     /db_xref="HGNC:HGNC:163"
                     /db_xref="MIM:102575"
                     /translation="MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSH
                     LRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIAS
                     KGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAP
                     YKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDI
                     PKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLM
                     EDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQL
                     EINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERL
                     DHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDR
                     VEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETID
                     QLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERL
                     AILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHAR
                     QQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYK
                     PKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDA
                     KGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQKKTGMMDTDDF
                     RACLISMGYNMGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFK
                     ILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL
                     "
     exon            352..466
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            467..586
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            587..673
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            674..761
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            762..840
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            841..922
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1008
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1101
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1332
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1480
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1631
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1632..1740
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..1881
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1882..2064
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            2065..2199
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            2200..2379
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            2380..2526
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            2527..2607
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            2608..2673
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            2674..2832
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     exon            2833..3722
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3514..3519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /note="hexamer: AAGAAA"
     polyA_site      3530
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /note="major polyA site"
     regulatory      3702..3707
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
                     /note="hexamer: ATTAAA"
     polyA_site      3722
                     /gene="ACTN1"
                     /gene_synonym="BDPLT15"
ORIGIN      
        1 agtgtgcgtg gagattaggt ccaagcgccc gcccagaggc aggcagtccg cgagcccagc
       61 cgccgctgtc gccgccagta gcagccttcg ccagcagcgc cgcggcggaa ccgggcgcag
      121 gggagcgagc ccggccccgc cagcccagcc cagcccagcc ctactccctc cccacgccag
      181 ggcagcagcc gttgctcaga gagaaggtgg aggaagaaat ccagacccta gcacgcgcgc
      241 accatcatgg accattatga ttctcagcaa accaacgatt acatgcagcc agaagaggac
      301 tgggaccggg acctgctcct ggacccggcc tgggagaagc agcagagaaa gacattcacg
      361 gcatggtgta actcccacct ccggaaggcg gggacacaga tcgagaacat cgaagaggac
      421 ttccgggatg gcctgaagct catgctgctg ctggaggtca tctcaggtga acgcttggcc
      481 aagccagagc gaggcaagat gagagtgcac aagatctcca acgtcaacaa ggccctggat
      541 ttcatagcca gcaaaggcgt caaactggtg tccatcggag ccgaagaaat cgtggatggg
      601 aatgtgaaga tgaccctggg catgatctgg accatcatcc tgcgctttgc catccaggac
      661 atctccgtgg aagagacttc agccaaggaa gggctgctcc tgtggtgtca gagaaagaca
      721 gccccttaca aaaatgtcaa catccagaac ttccacataa gctggaagga tggcctcggc
      781 ttctgtgctt tgatccaccg acaccggccc gagctgattg actacgggaa gctgcggaag
      841 gatgatccac tcacaaatct gaatacggct tttgacgtgg cagagaagta cctggacatc
      901 cccaagatgc tggatgccga agacatcgtt ggaactgccc gaccggatga gaaagccatc
      961 atgacttacg tgtctagctt ctaccacgcc ttctctggag cccagaaggc ggagacagca
     1021 gccaatcgca tctgcaaggt gttggccgtc aaccaggaga acgagcagct tatggaagac
     1081 tacgagaagc tggccagtga tctgttggag tggatccgcc gcacaatccc gtggctggag
     1141 aaccgggtgc ccgagaacac catgcatgcc atgcaacaga agctggagga cttccgggac
     1201 taccggcgcc tgcacaagcc gcccaaggtg caggagaagt gccagctgga gatcaacttc
     1261 aacacgctgc agaccaagct gcggctcagc aaccggcctg ccttcatgcc ctctgagggc
     1321 aggatggtct cggacatcaa caatgcctgg ggctgcctgg agcaggtgga gaagggctat
     1381 gaggagtggt tgctgaatga gatccggagg ctggagcgac tggaccacct ggcagagaag
     1441 ttccggcaga aggcctccat ccacgaggcc tggactgacg gcaaagaggc catgctgcga
     1501 cagaaggact atgagaccgc caccctctcg gagatcaagg ccctgctcaa gaagcatgag
     1561 gccttcgaga gtgacctggc tgcccaccag gaccgtgtgg agcagattgc cgccatcgca
     1621 caggagctca atgagctgga ctattatgac tcacccagtg tcaacgcccg ttgccaaaag
     1681 atctgtgacc agtgggacaa tctgggggcc ctaactcaga agcgaaggga agctctggag
     1741 cggaccgaga aactgctgga gaccattgac cagctgtact tggagtatgc caagcgggct
     1801 gcacccttca acaactggat ggagggggcc atggaggacc tgcaggacac cttcattgtg
     1861 cacaccattg aggagatcca gggactgacc acagcccatg agcagttcaa ggccaccctc
     1921 cctgatgccg acaaggagcg cctggccatc ctgggcatcc acaatgaggt gtccaagatt
     1981 gtccagacct accacgtcaa tatggcgggc accaacccct acacaaccat cacgcctcag
     2041 gagatcaatg gcaaatggga ccacgtgcgg cagctggtgc ctcggaggga ccaagctctg
     2101 acggaggagc atgcccgaca gcagcacaat gagaggctac gcaagcagtt tggagcccag
     2161 gccaatgtca tcgggccctg gatccagacc aagatggagg agatcgggag gatctccatt
     2221 gagatgcatg ggaccctgga ggaccagctc agccacctgc ggcagtatga gaagagcatc
     2281 gtcaactaca agccaaagat tgatcagctg gagggcgacc accagctcat ccaggaggcg
     2341 ctcatcttcg acaacaagca caccaactac accatggagc acatccgtgt gggctgggag
     2401 cagctgctca ccaccatcgc caggaccatc aatgaggtag agaaccagat cctgacccgg
     2461 gatgccaagg gcatcagcca ggagcagatg aatgagttcc gggcctcctt caaccacttt
     2521 gaccgggatc actccggcac actgggtccc gaggagttca aagcctgcct catcagcttg
     2581 ggttatgata ttggcaacga cccccagaag aagacaggca tgatggacac ggatgatttc
     2641 cgcgcctgcc tgatctccat gggttacaac atgggagaag cagaatttgc ccgcatcatg
     2701 agcattgtgg accccaaccg cctgggggta gtgacattcc aggccttcat tgacttcatg
     2761 tcccgcgaga cagccgacac agatacagca gaccaagtca tggcttcctt caagatcctg
     2821 gctggggaca agaactacat taccatggac gagctgcgcc gcgagctgcc acccgaccag
     2881 gctgagtact gcatcgcgcg gatggccccc tacaccggcc ccgactccgt gccaggtgct
     2941 ctggactaca tgtccttctc cacggcgctg tacggcgaga gtgacctcta atccaccccg
     3001 cccggccgcc ctcgtcttgt gcgccgtgcc ctgccttgca cctccgccgt cgcccatctc
     3061 ctgcctgggt tcggtttcag ctcccagcct ccacccgggt gagctggggc ccacgtggca
     3121 tcgatcctcc ctgcccgcga agtgacagtt tacaaaatta ttttctgcaa aaaagaaaaa
     3181 aaagttacgt taaaaaccaa aaaactacat attttattat agaaaaagta ttttttctcc
     3241 accagacaaa tggaaaaaaa gaggaaagat taactatttg caccgaaatg tcttgttttg
     3301 ttgcgacata ggaaaataac caagcacaaa gttatattcc atccttttta ctgatttttt
     3361 tttcttctat ctgttccatc tgctgtattc atttctccaa tctcatgtcc attttggtgt
     3421 gggagtcggg gtagggggta ctcttgtcaa aaggcacatt ggtgcatgtg tgtttgctag
     3481 ctcacttgtc catgaaaata ttttatgata ttaaagaaaa tcttttgaaa tggctgtttt
     3541 ttaaggaaga gaatttatgt ggcttctcat ttttaaatcc cctcagaggt gtgactagtc
     3601 tctttatcag cacacactta aaaaattttt aatattgtct attaaaaata ggacaaactt
     3661 ggagagtatg gacaactttg atattgcttg gcacagatgg tattaaaaaa accacactcc
     3721 ta
//
