LOCUS       NM_014065               2687 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens asteroid homolog 1 (ASTE1), transcript variant 2,
            mRNA.
ACCESSION   NM_014065
VERSION     NM_014065.4
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 2687)
  AUTHORS   Huang,B., Li,Q., Geng,Q., Lao,J., Guo,J., Huang,S. and Xu,D.
  TITLE     ASTE1 frameshift mutation triggers the immune response in
            Epstein-Barr virus-associated gastric cancer
  JOURNAL   Signal Transduct Target Ther 7 (1), 4 (2022)
   PUBMED   34983924
  REMARK    GeneRIF: ASTE1 frameshift mutation triggers the immune response in
            Epstein-Barr virus-associated gastric cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2687)
  AUTHORS   Zhao,F., Kim,W., Gao,H., Liu,C., Zhang,Y., Chen,Y., Deng,M.,
            Zhou,Q., Huang,J., Hu,Q., Chen,S.H., Nowsheen,S., Kloeber,J.A.,
            Qin,B., Yin,P., Tu,X., Guo,G., Qin,S., Zhang,C., Gao,M., Luo,K.,
            Liu,Y., Lou,Z. and Yuan,J.
  TITLE     ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating
            end resection
  JOURNAL   Nat Cell Biol 23 (8), 894-904 (2021)
   PUBMED   34354233
  REMARK    GeneRIF: ASTE1 promotes shieldin-complex-mediated DNA repair by
            attenuating end resection.
REFERENCE   3  (bases 1 to 2687)
  AUTHORS   Micaroni,M. and Malquori,L.
  TITLE     Overlapping ATP2C1 and ASTE1 genes in human genome: implications
            for SPCA1 expression?
  JOURNAL   Int J Mol Sci 14 (1), 674-683 (2013)
   PUBMED   23344038
  REMARK    GeneRIF: Data suggest that calcium ATPase ATP2C1 gene expression is
            influenced by an overlapping protein asteroid homolog 1 ASTE1 gene.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2687)
  AUTHORS   Tougeron,D., Fauquembergue,E., Rouquette,A., Le Pessot,F.,
            Sesboue,R., Laurent,M., Berthet,P., Mauillon,J., Di Fiore,F.,
            Sabourin,J.C., Michel,P., Tosi,M., Frebourg,T. and Latouche,J.B.
  TITLE     Tumor-infiltrating lymphocytes in colorectal cancers with
            microsatellite instability are correlated with the number and
            spectrum of frameshift mutations
  JOURNAL   Mod Pathol 22 (9), 1186-1195 (2009)
   PUBMED   19503063
  REMARK    GeneRIF: The four most frequently mutated genes in colorectal
            cancers with microsatellite instability were ACVR2 (92%), TAF1B
            (84%), ASTE1/HT001 (80%) and TGFBR2 (77%).
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK294156.1, AK027806.1 and BC069265.1.
            
            On Feb 27, 2020 this sequence version replaced NM_014065.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks an alternate in-frame exon in the 3' coding region, compared
            to variant 1. It encodes isoform 2, which is shorter than isoform
            1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110616.2, AK027806.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264992.8/ ENSP00000264992.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AK294156.1         30-52
            24-441              AK027806.1         1-418
            442-513             BC069265.1         184-255
            514-2342            AK027806.1         491-2319
            2343-2687           BC069265.1         2160-2504
FEATURES             Location/Qualifiers
     source          1..2687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..2687
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /note="asteroid homolog 1"
                     /db_xref="GeneID:28990"
                     /db_xref="HGNC:HGNC:25021"
                     /db_xref="MIM:620693"
     exon            1..319
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /inference="alignment:Splign:2.1.0"
     exon            320..440
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /inference="alignment:Splign:2.1.0"
     exon            441..1767
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /inference="alignment:Splign:2.1.0"
     CDS             466..2505
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein asteroid homolog 1; single-strand DNA endonuclease
                     ASTE1"
                     /codon_start=1
                     /product="single-strand DNA endonuclease ASTE1 isoform 2"
                     /protein_id="NP_054784.2"
                     /db_xref="CCDS:CCDS3068.1"
                     /db_xref="GeneID:28990"
                     /db_xref="HGNC:HGNC:25021"
                     /db_xref="MIM:620693"
                     /translation="MGIRGLMSFVEDHSNEFFTDLKLRDTKIVIDGYALFHRLCFSSN
                     LDLRYGGDYDSFADVVQKFFESLFACNICPYVVLDGGCDISDKKLTTLKDRAREKIQM
                     AHSLSVGGSGYVCPLLIREVFIQVLIKLRVCFVQCFSEADRDIMTLANHWNCPVLSSD
                     SDFCIFDLKTGFCPLNSFQWRNMNTIKGTQNYIPAKCFSLDAFCHHFSNMNKALLPLF
                     AVLCGNDHVNLPIMETFLSKARLPLGATSSKGRRHHRILGLLNWLSHFANPTEALDNV
                     LKYLPKKDRENVKELLCCSMEEYQQSQVKLQDFFQCGTYVCPDALNLGLPEWVLVALA
                     KGQLSPFISDALVLRRTILPTQVENMQQPNAHRISQPIRQIIYGLLLNASPHLDKTSW
                     NALPPQPLAFSEVERINKNIRTSIIDAVELAKDHSDLSRLTELSLRRRQMLLLETLKV
                     KQTILEPIPTSLKLPIAVSCYWLQHTETKAKLHHLQSLLLTMLVGPLIAIINSPGKEE
                     LQEDGAKMLYAEFQRVKAQTRLGTRLDLDTAHIFCQWQSCLQMGMYLNQLLSTPLPEP
                     DLTRLYSGSLVHGLCQQLLASTSVESLLSICPEAKQLYEYLFNATRSYAPAEIFLPKG
                     RSNSKKKRQKKQNTSCSKNRGRTTAHTKCWYEGNNRFGLLMVENLEEHSEASNIE"
     exon            1768..1978
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /inference="alignment:Splign:2.1.0"
     exon            1979..2174
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /inference="alignment:Splign:2.1.0"
     exon            2175..2687
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2668..2673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /note="hexamer: AATACA"
     polyA_site      2687
                     /gene="ASTE1"
                     /gene_synonym="HT001"
                     /note="major polyA site"
ORIGIN      
        1 aaggcggaag tgttcgccga cccaagtagg cggagaaagc agaggaggac cggcgggcca
       61 agctttccta gcctgacagc agccatttcg gaacgtacgt cccagccctc tttagctact
      121 tagcgcctct gggcccgaga acacctgctc cttggctcag tctggcgcca ccggcatcac
      181 ggaactgtac ttcccagaga cgtcacaccg ggagacttcc gattcccgct cttgagattg
      241 gactctcacg tgcaggagcc agtcctcgct gggctctagc gggcttctga tggaggagct
      301 actcctctgg gaggacagaa attagcagca gcctctgtca ccatccaaag attacaaccc
      361 atgaaaccat tgaatttgtg ccttgtatca gaaagcaaag gagaatgaaa aagcacagct
      421 aacattgctt gaggatctag gcgattaatt ctttagactg tcatcatggg tatccgagga
      481 ctaatgagtt ttgtggaaga tcatagtaat gagttcttca ctgatttgaa gttgcgggac
      541 acaaaaattg tcattgatgg ttatgctctt ttccaccgtc tttgcttcag ttcaaacttg
      601 gatctccggt atggagggga ctatgattct tttgcagatg ttgtacaaaa attctttgaa
      661 tcactgtttg cttgtaatat atgcccatat gttgtattag atggaggatg tgacatttca
      721 gataaaaagc ttacaacttt aaaggataga gctagagaga agatccagat ggcccattcc
      781 ctttctgttg gtgggagtgg gtacgtatgt cccttactca tccgggaagt attcatacag
      841 gttttgatca agctgcgggt gtgttttgtc cagtgctttt cagaagcaga tcgggacatt
      901 atgacacttg ctaaccattg gaattgccct gtgttatcat cagatagtga cttttgcatt
      961 tttgacctga aaactgggtt ttgcccattg aatagctttc agtggagaaa tatgaacact
     1021 attaagggca cacaaaacta tatccctgcc aaatgctttt cccttgatgc attctgccat
     1081 cacttcagca atatgaataa agctctacta cctctctttg cggtgctatg tggaaatgac
     1141 catgttaatc tacccatcat ggagacattc ttaagtaaag cgcgtcttcc tcttggagct
     1201 accagttcta aagggaggag acaccaccga atcctgggac ttctgaattg gttgtctcat
     1261 tttgccaacc ctaccgaagc actagataat gttctgaaat acctcccaaa aaaggatcga
     1321 gaaaatgtta aggaacttct ctgctgttcc atggaagaat accaacagtc ccaggtgaag
     1381 ctacaggact tcttccagtg tggtacttat gtctgtccag atgccttgaa tcttggttta
     1441 ccagaatggg tattagtggc tttagctaaa ggccagctat ctcctttcat cagtgatgct
     1501 ttggtcctaa gacggaccat tcttcccaca caggtggaaa acatgcagca accaaatgcc
     1561 cacagaatat ctcagcccat caggcaaatc atctatgggc ttcttttaaa tgcctcacca
     1621 catctggaca agacatcctg gaatgcattg cctcctcagc ctctagcttt cagtgaagtg
     1681 gaaaggatta ataaaaatat cagaacctca atcattgatg cagtagaact ggccaaggat
     1741 cattctgact taagcagatt gactgagctc tccttgagga ggcggcagat gcttctgtta
     1801 gaaaccctga aggtgaaaca gaccattctg gagccaatcc ctacttcact gaagttgccc
     1861 attgctgtca gttgctactg gttgcagcac accgagacca aagcaaagct acatcatcta
     1921 caatccttac tgctcacaat gctagtgggg cccttgattg ccataatcaa cagccctggt
     1981 aaggaagagc tgcaggaaga tggtgctaag atgttgtatg cagagttcca aagagtgaag
     2041 gcgcagacac ggctgggcac aagactggac ttagacacag ctcacatctt ctgtcagtgg
     2101 cagtcctgtc tccagatggg gatgtatctc aaccagctgc tgtccactcc tctcccagag
     2161 ccagacctaa ctcgactgta cagtggaagc ctggtgcacg gactatgcca gcaactgcta
     2221 gcatcgacct ctgtagaaag tctcctgagc atatgtcctg aggctaagca actttatgaa
     2281 tatctattca atgccacaag gtcatatgcc cccgctgaaa tattcctacc aaaaggtaga
     2341 tcaaattcaa aaaaaaaaag gcagaagaaa cagaatacca gctgttctaa gaacagaggg
     2401 agaaccactg cacacaccaa gtgttggtat gagggaaaca accggtttgg gttgttaatg
     2461 gttgaaaact tagaggaaca tagtgaggcc tccaacattg aataaaactc agtttgcatc
     2521 aaactagatg tatttaatat aatccttact taaaattctt ccgttaccac ccttgaaaca
     2581 attagctttt tctttaggac tgacctgtta ggggataaac atcacaataa tctgaattcc
     2641 aagttatttt gtattttgtt tttaataaat acaacctgat ttaagaa
//
