LOCUS       NM_001614               1919 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens actin gamma 1 (ACTG1), transcript variant 2, mRNA.
ACCESSION   NM_001614
VERSION     NM_001614.5
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 1919)
  AUTHORS   Greve,J.N., Marquardt,A., Heiringhoff,R., Reindl,T., Thiel,C., Di
            Donato,N., Taft,M.H. and Manstein,D.J.
  TITLE     The non-muscle actinopathy-associated mutation E334Q in
            cytoskeletal gamma-actin perturbs interaction of actin filaments
            with myosin and ADF/cofilin family proteins
  JOURNAL   Elife 12, 93013 (2024)
   PUBMED   38446501
  REMARK    GeneRIF: The non-muscle actinopathy-associated mutation E334Q in
            cytoskeletal gamma-actin perturbs interaction of actin filaments
            with myosin and ADF/cofilin family proteins.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1919)
  AUTHORS   Yao,H., Zhou,Y., Li,T., Li,Y., Li,F., Zhang,G., Fu,X., Kang,Y. and
            Wu,Q.
  TITLE     Bioinformatic identification and experiment validation revealed
            that ACTG1 is a promising prognostic signature and therapeutic
            target for sepsis
  JOURNAL   J Leukoc Biol 114 (4), 325-334 (2023)
   PUBMED   37368839
  REMARK    GeneRIF: Bioinformatic identification and experiment validation
            revealed that ACTG1 is a promising prognostic signature and
            therapeutic target for sepsis.
REFERENCE   3  (bases 1 to 1919)
  AUTHORS   Luo,J.Q., Yang,T.W., Wu,J., Lai,H.H., Zou,L.B., Chen,W.B.,
            Zhou,X.M., Lv,D.J., Cen,S.R., Long,Z.N., Mao,Y.Y., Zheng,P.X.,
            Su,X.H., Xian,Z.Y., Shu,F.P. and Mao,X.M.
  TITLE     Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis
            by interacting with ACTG1
  JOURNAL   Cell Death Dis 14 (8), 502 (2023)
   PUBMED   37542027
  REMARK    GeneRIF: Exosomal PGAM1 promotes prostate cancer angiogenesis and
            metastasis by interacting with ACTG1.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1919)
  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   5  (bases 1 to 1919)
  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   6  (bases 1 to 1919)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   7  (bases 1 to 1919)
  AUTHORS   Rodriguez Del Castillo,A., Vitale,M.L. and Trifaro,J.M.
  TITLE     Ca2+ and pH determine the interaction of chromaffin cell scinderin
            with phosphatidylserine and phosphatidylinositol 4,5,-biphosphate
            and its cellular distribution during nicotinic-receptor stimulation
            and protein kinase C activation
  JOURNAL   J Cell Biol 119 (4), 797-810 (1992)
   PUBMED   1331119
REFERENCE   8  (bases 1 to 1919)
  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 1919)
  AUTHORS   Erba,H.P., Eddy,R., Shows,T., Kedes,L. and Gunning,P.
  TITLE     Structure, chromosome location, and expression of the human
            gamma-actin gene: differential evolution, location, and expression
            of the cytoskeletal beta- and gamma-actin genes
  JOURNAL   Mol Cell Biol 8 (4), 1775-1789 (1988)
   PUBMED   2837653
REFERENCE   10 (bases 1 to 1919)
  AUTHORS   Vandekerckhove,J., Schering,B., Barmann,M. and Aktories,K.
  TITLE     Botulinum C2 toxin ADP-ribosylates cytoplasmic beta/gamma-actin in
            arginine 177
  JOURNAL   J Biol Chem 263 (2), 696-700 (1988)
   PUBMED   3335520
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X04098.1 and BC063495.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001614.4.
            
            Summary: Actins are highly conserved proteins that are involved in
            various types of cell motility and in maintenance of the
            cytoskeleton. Three main groups of actin isoforms have been
            identified in vertebrate animals: alpha, beta, and gamma. The alpha
            actins are found in muscle tissues and are a major constituent of
            the contractile apparatus. The beta and gamma actins co-exist in
            most cell types as components of the cytoskeleton and as mediators
            of internal cell motility. Actin gamma 1, encoded by this gene, is
            a cytoplasmic actin found in all cell types. Mutations in this gene
            are associated with DFNA20/26, a subtype of autosomal dominant
            non-syndromic sensorineural progressive hearing loss and also with
            Baraitser-Winter syndrome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1163658.90241.1,
                                           SRR3476690.105074.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000573283.7/ ENSP00000458435.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1917              X04098.1           2-1918
            1918-1919           BC063495.1         1837-1838
FEATURES             Location/Qualifiers
     source          1..1919
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..1919
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /note="actin gamma 1"
                     /db_xref="GeneID:71"
                     /db_xref="HGNC:HGNC:144"
                     /db_xref="MIM:102560"
     exon            1..66
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /inference="alignment:Splign:2.1.0"
     exon            67..195
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1200
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /note="cytoskeletal gamma-actin; epididymis luminal
                     protein 176"
                     /codon_start=1
                     /product="actin, cytoplasmic 2"
                     /protein_id="NP_001605.1"
                     /db_xref="CCDS:CCDS11782.1"
                     /db_xref="GeneID:71"
                     /db_xref="HGNC:HGNC:144"
                     /db_xref="MIM:102560"
                     /translation="MEEEIAALVIDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVM
                     VGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHP
                     VLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVT
                     HTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCY
                     VALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHE
                     TTFNSIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPE
                     RKYSVWIGGSILASLSTFQQMWISKQEYDESGPSIVHRKCF"
     exon            196..435
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /inference="alignment:Splign:2.1.0"
     exon            436..874
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1056
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1919
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1897..1902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /note="hexamer: AATAAA"
     polyA_site      1919
                     /gene="ACTG1"
                     /gene_synonym="ACT; ACTG; DFNA20; DFNA26; HEL-176"
                     /note="major polyA site"
ORIGIN      
        1 ctcagtcgcc gctgccagct ctcgcactct gttcttccgc cgctccgccg tcgcgtttct
       61 ctgccggtcg caatggaaga agagatcgcc gcgctggtca ttgacaatgg ctccggcatg
      121 tgcaaagctg gttttgctgg ggacgacgct ccccgagccg tgtttccttc catcgtcggg
      181 cgccccagac accagggcgt catggtgggc atgggccaga aggactccta cgtgggcgac
      241 gaggcccaga gcaagcgtgg catcctgacc ctgaagtacc ccattgagca tggcatcgtc
      301 accaactggg acgacatgga gaagatctgg caccacacct tctacaacga gctgcgcgtg
      361 gccccggagg agcacccagt gctgctgacc gaggcccccc tgaaccccaa ggccaacaga
      421 gagaagatga ctcagattat gtttgagacc ttcaacaccc cggccatgta cgtggccatc
      481 caggccgtgc tgtccctcta cgcctctggg cgcaccactg gcattgtcat ggactctgga
      541 gacggggtca cccacacggt gcccatctac gagggctacg ccctccccca cgccatcctg
      601 cgtctggacc tggctggccg ggacctgacc gactacctca tgaagatcct cactgagcga
      661 ggctacagct tcaccaccac ggccgagcgg gaaatcgtgc gcgacatcaa ggagaagctg
      721 tgctacgtcg ccctggactt cgagcaggag atggccaccg ccgcatcctc ctcttctctg
      781 gagaagagct acgagctgcc cgatggccag gtcatcacca ttggcaatga gcggttccgg
      841 tgtccggagg cgctgttcca gccttccttc ctgggtatgg aatcttgcgg catccacgag
      901 accaccttca actccatcat gaagtgtgac gtggacatcc gcaaagacct gtacgccaac
      961 acggtgctgt cgggcggcac caccatgtac ccgggcattg ccgacaggat gcagaaggag
     1021 atcaccgccc tggcgcccag caccatgaag atcaagatca tcgcaccccc agagcgcaag
     1081 tactcggtgt ggatcggtgg ctccatcctg gcctcactgt ccaccttcca gcagatgtgg
     1141 attagcaagc aggagtacga cgagtcgggc ccctccatcg tccaccgcaa atgcttctaa
     1201 acggactcag cagatgcgta gcatttgctg catgggttaa ttgagaatag aaatttgccc
     1261 ctggcaaatg cacacacctc atgctagcct cacgaaactg gaataagcct tcgaaaagaa
     1321 attgtccttg aagcttgtat ctgatatcag cactggattg tagaacttgt tgctgatttt
     1381 gaccttgtat tgaagttaac tgttcccctt ggtatttgtt taataccctg tacatatctt
     1441 tgagttcaac ctttagtacg tgtggcttgg tcacttcgtg gctaaggtaa gaacgtgctt
     1501 gtggaagaca agtctgtggc ttggtgagtc tgtgtggcca gcagcctctg atctgtgcag
     1561 ggtattaacg tgtcagggct gagtgttctg ggatttctct agaggctggc aagaaccagt
     1621 tgttttgtct tgcgggtctg tcagggttgg aaagtccaag ccgtaggacc cagtttcctt
     1681 tcttagctga tgtctttggc cagaacaccg tgggctgtta cttgctttga gttggaagcg
     1741 gtttgcattt acgcctgtaa atgtattcat tcttaattta tgtaaggttt tttttgtacg
     1801 caattctcga ttctttgaag agatgacaac aaattttggt tttctactgt tatgtgagaa
     1861 cattaggccc cagcaacacg tcattgtgta aggaaaaata aaagtgctgc cgtaaccaa
//
