LOCUS       NM_001101               1812 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens actin beta (ACTB), mRNA.
ACCESSION   NM_001101
VERSION     NM_001101.5
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 1812)
  AUTHORS   Binder,S., Ramachandran,H., Haslinger,D., Hildebrandt,B.,
            Dobner,J., Haarmann-Stemmann,T., Chiocchetti,A. and Rossi,A.
  TITLE     CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem
            cells: A model for investigating human ACTB loss-of-function and
            genetic adaptive responses
  JOURNAL   Stem Cell Res 77, 103395 (2024)
   PUBMED   38518401
  REMARK    GeneRIF: CRISPR/Cas9-mediated editing of ACTB in induced
            pluripotent stem cells: A model for investigating human ACTB
            loss-of-function and genetic adaptive responses.
REFERENCE   2  (bases 1 to 1812)
  AUTHORS   Fouassier,M., Isidor,B., Cogne,B., Bene,M.C. and Eveillard,M.
  TITLE     The identification of giant platelets with disorganized granules
            can suggest ACTB gene mutation
  JOURNAL   Int J Lab Hematol 45 (3), e68-e70 (2023)
   PUBMED   36564926
  REMARK    GeneRIF: The identification of giant platelets with disorganized
            granules can suggest ACTB gene mutation.
REFERENCE   3  (bases 1 to 1812)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1812)
  AUTHORS   Yang,C., Zhang,X., Ge,X., He,C., Liu,S., Yang,S. and Huang,C.
  TITLE     N-Acetylcysteine protects against cobalt chloride-induced
            endothelial dysfunction by enhancing glucose-6-phosphate
            dehydrogenase activity
  JOURNAL   FEBS Open Bio 12 (8), 1475-1488 (2022)
   PUBMED   35666067
REFERENCE   5  (bases 1 to 1812)
  AUTHORS   Yates,T.M., Turner,C.L., Firth,H.V., Berg,J. and Pilz,D.T.
  TITLE     Baraitser-Winter cerebrofrontofacial syndrome
  JOURNAL   Clin Genet 92 (1), 3-9 (2017)
   PUBMED   27625340
  REMARK    GeneRIF: Baraitser-Winter cerebrofrontofacial syndrome is caused by
            missense mutations in the cytoplasmic beta- and gamma-actin genes
            ACTB and ACTG1. We provide an overview of the clinical
            characteristics (including some novel findings in four recently
            diagnosed patients), diagnosis, management, mutation spectrum and
            genetic counselling.
            Review article
REFERENCE   6  (bases 1 to 1812)
  AUTHORS   Verloes,A., Drunat,S., Pilz,D. and Di Donato,N.
  TITLE     Baraitser-Winter Cerebrofrontofacial Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26583190
REFERENCE   7  (bases 1 to 1812)
  AUTHORS   Harris,D.E., Warshaw,D.M. and Periasamy,M.
  TITLE     Nucleotide sequences of the rabbit alpha-smooth-muscle and
            beta-non-muscle actin mRNAs
  JOURNAL   Gene 112 (2), 265-266 (1992)
   PUBMED   1555776
REFERENCE   8  (bases 1 to 1812)
  AUTHORS   Habets,G.G., van der Kammen,R.A., Willemsen,V., Balemans,M.,
            Wiegant,J. and Collard,J.G.
  TITLE     Sublocalization of an invasion-inducing locus and other genes on
            human chromosome 7
  JOURNAL   Cytogenet Cell Genet 60 (3-4), 200-205 (1992)
   PUBMED   1505215
REFERENCE   9  (bases 1 to 1812)
  AUTHORS   Smith,S.S., Kelly,K.H. and Jockusch,B.M.
  TITLE     Actin co-purifies with RNA polymerase II
  JOURNAL   Biochem Biophys Res Commun 86 (1), 161-166 (1979)
   PUBMED   435297
REFERENCE   10 (bases 1 to 1812)
  AUTHORS   Vandekerckhove,J. and Weber,K.
  TITLE     Mammalian cytoplasmic actins are the products of at least two genes
            and differ in primary structure in at least 25 identified positions
            from skeletal muscle actins
  JOURNAL   Proc Natl Acad Sci U S A 75 (3), 1106-1110 (1978)
   PUBMED   274701
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK130157.1 and BC009636.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001101.4.
            
            Summary: This gene encodes one of six different actin proteins.
            Actins are highly conserved proteins that are involved in cell
            motility, structure, integrity, and intercellular signaling. The
            encoded protein is a major constituent of the contractile apparatus
            and one of the two nonmuscle cytoskeletal actins that are
            ubiquitously expressed. Mutations in this gene cause
            Baraitser-Winter syndrome 1, which is characterized by intellectual
            disability with a distinctive facial appearance in human patients.
            Numerous pseudogenes of this gene have been identified throughout
            the human genome. [provided by RefSeq, Aug 2017].
            
            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 :: AK222925.1, SRR3476690.1161360.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000646664.1/ ENSP00000494750.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1336              AK130157.1         1-1336
            1337-1812           BC009636.1         71-546
FEATURES             Location/Qualifiers
     source          1..1812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1"
     gene            1..1812
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /note="actin beta"
                     /db_xref="GeneID:60"
                     /db_xref="HGNC:HGNC:132"
                     /db_xref="MIM:102630"
     exon            1..78
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /inference="alignment:Splign:2.1.0"
     exon            79..207
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1212
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /note="beta cytoskeletal actin; PS1TP5-binding protein 1;
                     I(2)-actin"
                     /codon_start=1
                     /product="actin, cytoplasmic 1"
                     /protein_id="NP_001092.1"
                     /db_xref="CCDS:CCDS5341.1"
                     /db_xref="GeneID:60"
                     /db_xref="HGNC:HGNC:132"
                     /db_xref="MIM:102630"
                     /translation="MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVM
                     VGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHP
                     VLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
                     HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCY
                     VALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHE
                     TTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPE
                     RKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF"
     exon            208..447
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /inference="alignment:Splign:2.1.0"
     exon            448..886
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /inference="alignment:Splign:2.1.0"
     exon            887..1068
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1812
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1787..1792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /note="hexamer: AATAAA"
     polyA_site      1812
                     /gene="ACTB"
                     /gene_synonym="BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1;
                     THC8"
                     /note="major polyA site"
ORIGIN      
        1 accgccgaga ccgcgtccgc cccgcgagca cagagcctcg cctttgccga tccgccgccc
       61 gtccacaccc gccgccagct caccatggat gatgatatcg ccgcgctcgt cgtcgacaac
      121 ggctccggca tgtgcaaggc cggcttcgcg ggcgacgatg ccccccgggc cgtcttcccc
      181 tccatcgtgg ggcgccccag gcaccagggc gtgatggtgg gcatgggtca gaaggattcc
      241 tatgtgggcg acgaggccca gagcaagaga ggcatcctca ccctgaagta ccccatcgag
      301 cacggcatcg tcaccaactg ggacgacatg gagaaaatct ggcaccacac cttctacaat
      361 gagctgcgtg tggctcccga ggagcacccc gtgctgctga ccgaggcccc cctgaacccc
      421 aaggccaacc gcgagaagat gacccagatc atgtttgaga ccttcaacac cccagccatg
      481 tacgttgcta tccaggctgt gctatccctg tacgcctctg gccgtaccac tggcatcgtg
      541 atggactccg gtgacggggt cacccacact gtgcccatct acgaggggta tgccctcccc
      601 catgccatcc tgcgtctgga cctggctggc cgggacctga ctgactacct catgaagatc
      661 ctcaccgagc gcggctacag cttcaccacc acggccgagc gggaaatcgt gcgtgacatt
      721 aaggagaagc tgtgctacgt cgccctggac ttcgagcaag agatggccac ggctgcttcc
      781 agctcctccc tggagaagag ctacgagctg cctgacggcc aggtcatcac cattggcaat
      841 gagcggttcc gctgccctga ggcactcttc cagccttcct tcctgggcat ggagtcctgt
      901 ggcatccacg aaactacctt caactccatc atgaagtgtg acgtggacat ccgcaaagac
      961 ctgtacgcca acacagtgct gtctggcggc accaccatgt accctggcat tgccgacagg
     1021 atgcagaagg agatcactgc cctggcaccc agcacaatga agatcaagat cattgctcct
     1081 cctgagcgca agtactccgt gtggatcggc ggctccatcc tggcctcgct gtccaccttc
     1141 cagcagatgt ggatcagcaa gcaggagtat gacgagtccg gcccctccat cgtccaccgc
     1201 aaatgcttct aggcggacta tgacttagtt gcgttacacc ctttcttgac aaaacctaac
     1261 ttgcgcagaa aacaagatga gattggcatg gctttatttg ttttttttgt tttgttttgg
     1321 tttttttttt ttttttggct tgactcagga tttaaaaact ggaacggtga aggtgacagc
     1381 agtcggttgg agcgagcatc ccccaaagtt cacaatgtgg ccgaggactt tgattgcaca
     1441 ttgttgtttt tttaatagtc attccaaata tgagatgcgt tgttacagga agtcccttgc
     1501 catcctaaaa gccaccccac ttctctctaa ggagaatggc ccagtcctct cccaagtcca
     1561 cacaggggag gtgatagcat tgctttcgtg taaattatgt aatgcaaaat ttttttaatc
     1621 ttcgccttaa tactttttta ttttgtttta ttttgaatga tgagccttcg tgccccccct
     1681 tccccctttt ttgtccccca acttgagatg tatgaaggct tttggtctcc ctgggagtgg
     1741 gtggaggcag ccagggctta cctgtacact gacttgagac cagttgaata aaagtgcaca
     1801 ccttaaaaat ga
//
