LOCUS       NM_006686               1399 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens actin like 7B (ACTL7B), mRNA.
ACCESSION   NM_006686
VERSION     NM_006686.4
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 1399)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1399)
  AUTHORS   Patel,Y.M., Stram,D.O., Wilkens,L.R., Park,S.S., Henderson,B.E., Le
            Marchand,L., Haiman,C.A. and Murphy,S.E.
  TITLE     The contribution of common genetic variation to nicotine and
            cotinine glucuronidation in multiple ethnic/racial populations
  JOURNAL   Cancer Epidemiol Biomarkers Prev 24 (1), 119-127 (2015)
   PUBMED   25293881
REFERENCE   3  (bases 1 to 1399)
  AUTHORS   Leandro-Garcia,L.J., Inglada-Perez,L., Pita,G., Hjerpe,E.,
            Leskela,S., Jara,C., Mielgo,X., Gonzalez-Neira,A., Robledo,M.,
            Avall-Lundqvist,E., Green,H. and Rodriguez-Antona,C.
  TITLE     Genome-wide association study identifies ephrin type A receptors
            implicated in paclitaxel induced peripheral sensory neuropathy
  JOURNAL   J Med Genet 50 (9), 599-605 (2013)
   PUBMED   23776197
REFERENCE   4  (bases 1 to 1399)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   5  (bases 1 to 1399)
  AUTHORS   Hisano,M., Ohta,H., Nishimune,Y. and Nozaki,M.
  TITLE     Methylation of CpG dinucleotides in the open reading frame of a
            testicular germ cell-specific intronless gene, Tact1/Actl7b,
            represses its expression in somatic cells
  JOURNAL   Nucleic Acids Res 31 (16), 4797-4804 (2003)
   PUBMED   12907721
REFERENCE   6  (bases 1 to 1399)
  AUTHORS   Chadwick,B.P., Mull,J., Helbling,L.A., Gill,S., Leyne,M.,
            Robbins,C.M., Pinkett,H.W., Makalowska,I., Maayan,C.,
            Blumenfeld,A., Axelrod,F.B., Brownstein,M., Gusella,J.F. and
            Slaugenhaupt,S.A.
  TITLE     Cloning, mapping, and expression of two novel actin genes,
            actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the
            familial dysautonomia candidate region on 9q31
  JOURNAL   Genomics 58 (3), 302-309 (1999)
   PUBMED   10373328
REFERENCE   7  (bases 1 to 1399)
  AUTHORS   Schafer,D.A. and Schroer,T.A.
  TITLE     Actin-related proteins
  JOURNAL   Annu Rev Cell Dev Biol 15, 341-363 (1999)
   PUBMED   10611965
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB021848.1, BC033789.1,
            AK313871.1 and AI150021.1.
            
            On May 17, 2019 this sequence version replaced NM_006686.3.
            
            Summary: The protein encoded by this gene is a member of a family
            of actin-related proteins (ARPs) which share significant amino acid
            sequence identity to conventional actins. Both actins and ARPs have
            an actin fold, which is an ATP-binding cleft, as a common feature.
            The ARPs are involved in diverse cellular processes, including
            vesicular transport, spindle orientation, nuclear migration and
            chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A,
            are intronless, and are located approximately 4 kb apart in a
            head-to-head orientation within the familial dysautonomia candidate
            region on 9q31. Based on mutational analysis of the ACTL7B gene in
            patients with this disorder, it was concluded that it is unlikely
            to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A,
            the ACTL7B gene is expressed predominantly in the testis, however,
            its exact function is not known. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR5189667.282077.1, HM005666.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374667.5/ ENSP00000363799.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-478               DB021848.1         47-524
            479-925             BC033789.1         466-912
            926-1304            AK313871.1         928-1306
            1305-1399           AI150021.1         1-95                c
FEATURES             Location/Qualifiers
     source          1..1399
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.3"
     gene            1..1399
                     /gene="ACTL7B"
                     /gene_synonym="Tact1"
                     /note="actin like 7B"
                     /db_xref="GeneID:10880"
                     /db_xref="HGNC:HGNC:162"
                     /db_xref="MIM:604304"
     exon            1..1399
                     /gene="ACTL7B"
                     /gene_synonym="Tact1"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1304
                     /gene="ACTL7B"
                     /gene_synonym="Tact1"
                     /note="actin-like 7-beta; testis tissue sperm-binding
                     protein Li 43a"
                     /codon_start=1
                     /product="actin-like protein 7B"
                     /protein_id="NP_006677.1"
                     /db_xref="CCDS:CCDS6771.1"
                     /db_xref="GeneID:10880"
                     /db_xref="HGNC:HGNC:162"
                     /db_xref="MIM:604304"
                     /translation="MATRNSPMPLGTAQGDPGEAGTRPGPDASLRDTGAATQLKMKPR
                     KVHKIKAVIIDLGSQYCKCGYAGEPRPTYFISSTVGKRCPEAADAGDTRKWTLVGHEL
                     LNTEAPLKLVNPLKHGIVVDWDCVQDIWEYIFRTAMKILPEEHAVLVSDPPLSPSSNR
                     EKYAELMFETFGIPAMHVTSQSLLSIYSYGKTSGLVVESGHGVSHVVPISEGDVLPGL
                     TSRADYAGGDLTNYLMQLLNEAGHAFTDDHLHIIEHIKKKCCYAAFLPEEELGLVPEE
                     LRVDYELPDGKLITIGQERFRCSEMLFQPSLAGSTQPGLPELTAACLGRCQDTGFKEE
                     MAANVLLCGGCTMLDGFPERFQRELSLLCPGDSPAVAAAPERKTSVWTGGSILASLQA
                     FQQLWVSKEEFEERGSVAIYSKC"
     regulatory      1380..1385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTL7B"
                     /gene_synonym="Tact1"
                     /note="hexamer: CATAAA"
     polyA_site      1399
                     /gene="ACTL7B"
                     /gene_synonym="Tact1"
                     /note="major polyA site"
ORIGIN      
        1 atttctcccc agggggctct aggctgtgga tgtgagaagg ggagcaaggg aggcagatgg
       61 cgacaaggaa cagccccatg cccctgggca cggctcaggg tgaccctgga gaggcaggaa
      121 cacggcccgg ccctgacgcc agcctccggg acacaggtgc ggccactcag ctcaagatga
      181 agcccaggaa ggtgcacaag atcaaggcgg tcatcatcga cctgggctcc cagtactgca
      241 agtgcggcta cgcgggagag ccgaggccca cctacttcat ctcctccacc gtgggcaaac
      301 gctgccccga ggcggccgac gctggcgaca cccgcaagtg gactttagtg ggccatgagc
      361 tgctcaacac ggaggcgcct ctcaagctgg tgaacccgct gaagcacggc atcgtggtgg
      421 actgggactg cgtgcaggac atctgggagt acatcttccg caccgccatg aagatcctcc
      481 ccgaggagca cgctgtgctg gtctccgacc ctccgctcag ccccagcagc aaccgggaga
      541 agtacgcgga gctcatgttt gagaccttcg gcatcccagc catgcacgtg acgtcccagt
      601 cgttgctgtc catctactcc tacggcaaga cctcggggct ggtggtggag agcgggcacg
      661 gcgtctcgca cgtggtgccc atatccgagg gcgacgtgct gccgggcctg accagccgcg
      721 ccgactacgc tgggggtgac ctcaccaact acctgatgca gctgctcaat gaggcgggcc
      781 acgcattcac ggacgaccac ctgcacatca tagagcacat caagaagaag tgctgctatg
      841 cggccttcct gcccgaggag gagctgggcc tggtcccgga ggagctgcgc gtggactacg
      901 agctcccgga cggcaaactc atcactattg gccaggagcg cttccgttgc tctgagatgc
      961 tcttccagcc ctccctggca ggcagcaccc agccgggcct cccggagctc acagctgcct
     1021 gcctgggccg ctgccaggac acgggcttca aggaggagat ggccgccaac gtgctactgt
     1081 gtggcggctg cactatgctg gatggcttcc ccgagcgctt ccagagggag ctgagcctcc
     1141 tctgccccgg ggacagccct gcagtggctg ccgctcctga gaggaagacc tccgtgtgga
     1201 ccggcggttc catcctggcc tccctgcagg ccttccaaca gctctgggtc agcaaggaag
     1261 agtttgagga gcggggcagc gtggccatct acagcaagtg ctgagcctcg gcatttccac
     1321 agacaaggcc tccagcacag atggccacag gcctctctat acacatttac agaatttcac
     1381 ataaaggttt actctgaaa
//
