LOCUS       NM_178525               1396 bp    mRNA    linear   PRI 03-AUG-2024
DEFINITION  Homo sapiens actin like 9 (ACTL9), mRNA.
ACCESSION   NM_178525
VERSION     NM_178525.5
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 1396)
  AUTHORS   Sinaei,R., Eslami,M., Dadfar,M. and Saberi,A.
  TITLE     Identification of a new mutation in the ACTL9 gene in men with
            unexplained infertility
  JOURNAL   Mol Genet Genomic Med 12 (5), e2448 (2024)
   PUBMED   38769899
  REMARK    GeneRIF: Identification of a new mutation in the ACTL9 gene in men
            with unexplained infertility.
REFERENCE   2  (bases 1 to 1396)
  AUTHORS   Dai,J., Zhang,T., Guo,J., Zhou,Q., Gu,Y., Zhang,J., Hu,L., Zong,Y.,
            Song,J., Zhang,S., Dai,C., Gong,F., Lu,G., Zheng,W. and Lin,G.
  TITLE     Homozygous pathogenic variants in ACTL9 cause fertilization failure
            and male infertility in humans and mice
  JOURNAL   Am J Hum Genet 108 (3), 469-481 (2021)
   PUBMED   33626338
  REMARK    GeneRIF: Homozygous pathogenic variants in ACTL9 cause
            fertilization failure and male infertility in humans and mice.
REFERENCE   3  (bases 1 to 1396)
  AUTHORS   Kang,Z., Li,Q., Fu,P., Yan,S., Guan,M., Xu,J. and Xu,F.
  TITLE     Correlation of KIF3A and OVOL1, but not ACTL9, with atopic
            dermatitis in Chinese pediatric patients
  JOURNAL   Gene 571 (2), 249-251 (2015)
   PUBMED   26127003
  REMARK    GeneRIF: KIF3A and OVOL1, but not ACTL9, are involved in the
            development of Atopic dermatitis in the Chinese pediatric
            population.
REFERENCE   4  (bases 1 to 1396)
  AUTHORS   Lepre,T., Cascella,R., Ragazzo,M., Galli,E., Novelli,G. and
            Giardina,E.
  TITLE     Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema
            in Italian patients
  JOURNAL   Br J Dermatol 168 (5), 1106-1108 (2013)
   PUBMED   23278845
  REMARK    GeneRIF: Association of KIF3A, but not OVOL1 and ACTL9, with atopic
            eczema in Italian patients
REFERENCE   5  (bases 1 to 1396)
  AUTHORS   Paternoster,L., Standl,M., Chen,C.M., Ramasamy,A., Bonnelykke,K.,
            Duijts,L., Ferreira,M.A., Alves,A.C., Thyssen,J.P., Albrecht,E.,
            Baurecht,H., Feenstra,B., Sleiman,P.M., Hysi,P., Warrington,N.M.,
            Curjuric,I., Myhre,R., Curtin,J.A., Groen-Blokhuis,M.M.,
            Kerkhof,M., Saaf,A., Franke,A., Ellinghaus,D., Folster-Holst,R.,
            Dermitzakis,E., Montgomery,S.B., Prokisch,H., Heim,K.,
            Hartikainen,A.L., Pouta,A., Pekkanen,J., Blakemore,A.I.,
            Buxton,J.L., Kaakinen,M., Duffy,D.L., Madden,P.A., Heath,A.C.,
            Montgomery,G.W., Thompson,P.J., Matheson,M.C., Le Souef,P., St
            Pourcain,B., Smith,G.D., Henderson,J., Kemp,J.P., Timpson,N.J.,
            Deloukas,P., Ring,S.M., Wichmann,H.E., Muller-Nurasyid,M.,
            Novak,N., Klopp,N., Rodriguez,E., McArdle,W., Linneberg,A.,
            Menne,T., Nohr,E.A., Hofman,A., Uitterlinden,A.G., van Duijn,C.M.,
            Rivadeneira,F., de Jongste,J.C., van der Valk,R.J., Wjst,M.,
            Jogi,R., Geller,F., Boyd,H.A., Murray,J.C., Kim,C., Mentch,F.,
            March,M., Mangino,M., Spector,T.D., Bataille,V., Pennell,C.E.,
            Holt,P.G., Sly,P., Tiesler,C.M., Thiering,E., Illig,T., Imboden,M.,
            Nystad,W., Simpson,A., Hottenga,J.J., Postma,D., Koppelman,G.H.,
            Smit,H.A., Soderhall,C., Chawes,B., Kreiner-Moller,E., Bisgaard,H.,
            Melen,E., Boomsma,D.I., Custovic,A., Jacobsson,B.,
            Probst-Hensch,N.M., Palmer,L.J., Glass,D., Hakonarson,H.,
            Melbye,M., Jarvis,D.L., Jaddoe,V.W., Gieger,C., Strachan,D.P.,
            Martin,N.G., Jarvelin,M.R., Heinrich,J., Evans,D.M. and
            Weidinger,S.
  CONSRTM   Australian Asthma Genetics Consortium (AAGC); Genetics of
            Overweight Young Adults (GOYA) Consortium; EArly Genetics &
            Lifecourse Epidemiology (EAGLE) Consortium
  TITLE     Meta-analysis of genome-wide association studies identifies three
            new risk loci for atopic dermatitis
  JOURNAL   Nat Genet 44 (2), 187-192 (2011)
   PUBMED   22197932
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY011370.1, HY042660.1, BC024028.2 and AI798166.1.
            
            On May 17, 2019 this sequence version replaced NM_178525.4.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC045752.1, HM005328.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324436.5/ ENSP00000316674.3
            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
            1-45                HY011370.1         36-80
            46-413              HY042660.1         47-414
            414-1395            BC024028.2         397-1378
            1396-1396           AI798166.1         7-7                 c
FEATURES             Location/Qualifiers
     source          1..1396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1396
                     /gene="ACTL9"
                     /gene_synonym="HSD21; SPGF53"
                     /note="actin like 9"
                     /db_xref="GeneID:284382"
                     /db_xref="HGNC:HGNC:28494"
                     /db_xref="MIM:619251"
     exon            1..1396
                     /gene="ACTL9"
                     /gene_synonym="HSD21; SPGF53"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..1345
                     /gene="ACTL9"
                     /gene_synonym="HSD21; SPGF53"
                     /note="testicular tissue protein Li 9; testicular tissue
                     protein Li 15"
                     /codon_start=1
                     /product="actin-like protein 9"
                     /protein_id="NP_848620.3"
                     /db_xref="CCDS:CCDS12207.1"
                     /db_xref="GeneID:284382"
                     /db_xref="HGNC:HGNC:28494"
                     /db_xref="MIM:619251"
                     /translation="MDASRPKSSESQSSLEAPRPGPNPSPNVVNKPLQRDSPGMVADR
                     LPPKTGAVVIDMGTGTCKVGFAGQASPTYTVATILGCQPKKPATSGQSGLQTFIGEAA
                     RVLPELTLVQPLRSGIVVDWDAAELIWRHLLEHDLRVATHDHPLLFSDPPFSPATNRE
                     KLVEVAFESLRSPAMYVASQSVLSVYAHGRVSGLVVDTGHGVTYTVPVFQGYNLLHAT
                     ERLDLAGNNLTAFLAEMLLQAGLPLGQQDLDLVENIKHHYCYVASDFQKEQARPEQEY
                     KRTLKLPDGRTVTLGKELFQCPELLFNPPEVPGLSPVGLSTMAKQSLRKLSLEMRADL
                     AQNVLLCGGSSLFTGFEGRFRAELLRALPAETHVVVAAQPTRNFSVWIGGSILASLRA
                     FQSCWVLREQYEEQGPYIVYRKCY"
ORIGIN      
        1 gtctgcctgc cctccccact ggccgggcct caacctcttc tccccgcaac cccaacccca
       61 gaggaaaagc cccctcacct ggcgtcccgc aaccatggat gcaagtcgcc ccaagtcctc
      121 ggaatcccag tcctccctgg aggcccccag gcccggccca aaccccagtc ccaacgtggt
      181 gaacaagccc ctgcagcggg actcccccgg catggtggcc gacaggctgc caccaaagac
      241 cggcgcggtg gttattgaca tgggcacagg cacctgtaag gtaggttttg ctgggcaggc
      301 cagccccacc tacaccgtgg ccaccatcct gggctgccag cccaagaaac ccgccacctc
      361 ggggcagtcc gggctgcaga cgttcatcgg cgaggcagcc cgcgtgctcc cagagctgac
      421 gctggtgcaa cccctgcgca gcggcatcgt cgtggactgg gatgccgccg agctcatctg
      481 gcgccacctg ctggagcacg acctccgagt ggccacccac gaccacccgc tgctgttctc
      541 cgacccaccc ttcagcccgg ccaccaaccg cgagaagcta gtggaggtgg ccttcgagtc
      601 gctgcgctcc ccagccatgt acgtggcatc gcagtcggtg ctgtctgtct acgcccacgg
      661 tcgtgtcagc gggctggtgg tggacacggg acacggggtc acctacacag tgcccgtctt
      721 ccagggctac aacctgctcc acgccacgga gcgtctggac ctggcgggca acaacctgac
      781 cgccttcctg gcggagatgc tgctccaggc cggcctgccc ctgggacagc aggacctgga
      841 cctagtggag aacattaagc accactattg ctacgtggcc tccgacttcc agaaggagca
      901 ggcccggccg gagcaggagt acaagcggac tctgaagctg cccgatgggc gcacggtcac
      961 cctgggcaag gagctgttcc agtgtccgga gctgctgttc aaccccccag aggtcccggg
     1021 gctgtcaccc gtcggcctct ccaccatggc caagcagagt ctccgcaagt tgtcactgga
     1081 gatgcgcgcg gacttggccc aaaacgtgct tctctgcggt gggtcctcgc tcttcaccgg
     1141 cttcgagggt cgcttccggg cagagctgct gcgcgctctg ccagccgaga cccacgtggt
     1201 ggtggctgcc cagcccacca ggaatttctc cgtatggatc gggggctcca tcctggcctc
     1261 cctgcgcgcc ttccagtcct gctgggtcct gcgggagcag tacgaggaac agggtcccta
     1321 tatcgtgtac cgcaaatgct actgaccagg gcagagctgg ggagggcgtg ggggcagtaa
     1381 agcctctgct acagcc
//
