LOCUS       NM_001012638            1427 bp    mRNA    linear   ROD 14-JUN-2024
DEFINITION  Mus musculus adrenocortical dysplasia (Acd), transcript variant 1,
            mRNA.
ACCESSION   NM_001012638 XM_620709
VERSION     NM_001012638.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1427)
  AUTHORS   Min,S., Kwon,S.M., Hong,J., Lee,Y.K., Park,T.J., Lim,S.B. and
            Yoon,G.
  TITLE     Mitoribosomal Deregulation Drives Senescence via TPP1-Mediated
            Telomere Deprotection
  JOURNAL   Cells 11 (13), 2079 (2022)
   PUBMED   35805162
  REMARK    GeneRIF: Mitoribosomal Deregulation Drives Senescence via
            TPP1-Mediated Telomere Deprotection.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1427)
  AUTHORS   Graniel,J.V., Bisht,K., Friedman,A., White,J., Perkey,E.,
            Vanderbeck,A., Moroz,A., Carrington,L.J., Brandstadter,J.D.,
            Allen,F., Shami,A.N., Thomas,P., Crayton,A., Manzor,M.,
            Mychalowych,A., Chase,J., Hammoud,S.S., Keegan,C.E., Maillard,I.
            and Nandakumar,J.
  TITLE     Differential impact of a dyskeratosis congenita mutation in TPP1 on
            mouse hematopoiesis and germline
  JOURNAL   Life Sci Alliance 5 (1), e202101208 (2021)
   PUBMED   34645668
  REMARK    GeneRIF: Differential impact of a dyskeratosis congenita mutation
            in TPP1 on mouse hematopoiesis and germline.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1427)
  AUTHORS   Gu,P., Jia,S., Takasugi,T., Tesmer,V.M., Nandakumar,J., Chen,Y. and
            Chang,S.
  TITLE     Distinct functions of POT1 proteins contribute to the regulation of
            telomerase recruitment to telomeres
  JOURNAL   Nat Commun 12 (1), 5514 (2021)
   PUBMED   34535663
  REMARK    GeneRIF: Distinct functions of POT1 proteins contribute to the
            regulation of telomerase recruitment to telomeres.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1427)
  AUTHORS   Grill,S., Padmanaban,S., Friedman,A., Perkey,E., Allen,F.,
            Tesmer,V.M., Chase,J., Khoriaty,R., Keegan,C.E., Maillard,I. and
            Nandakumar,J.
  TITLE     TPP1 mutagenesis screens unravel shelterin interfaces and functions
            in hematopoiesis
  JOURNAL   JCI Insight 6 (9), 138059 (2021)
   PUBMED   33822766
  REMARK    GeneRIF: TPP1 mutagenesis screens unravel shelterin interfaces and
            functions in hematopoiesis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1427)
  AUTHORS   Lovejoy,C.A., Takai,K., Huh,M.S., Picketts,D.J. and de Lange,T.
  TITLE     ATRX affects the repair of telomeric DSBs by promoting cohesion and
            a DAXX-dependent activity
  JOURNAL   PLoS Biol 18 (1), e3000594 (2020)
   PUBMED   31895940
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1427)
  AUTHORS   He,H., Multani,A.S., Cosme-Blanco,W., Tahara,H., Ma,J., Pathak,S.,
            Deng,Y. and Chang,S.
  TITLE     POT1b protects telomeres from end-to-end chromosomal fusions and
            aberrant homologous recombination
  JOURNAL   EMBO J 25 (21), 5180-5190 (2006)
   PUBMED   17053789
REFERENCE   7  (bases 1 to 1427)
  AUTHORS   Keegan,C.E., Hutz,J.E., Else,T., Adamska,M., Shah,S.P., Kent,A.E.,
            Howes,J.M., Beamer,W.G. and Hammer,G.D.
  TITLE     Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd)
            mice is caused by a splicing mutation in a novel telomeric
            regulator
  JOURNAL   Hum Mol Genet 14 (1), 113-123 (2005)
   PUBMED   15537664
  REMARK    GeneRIF: telomeric regulator is required for proper urogenital
            ridge differentiation, axial skeleton specification and limb
            patterning in mice.
REFERENCE   8  (bases 1 to 1427)
  AUTHORS   Liu,D., O'Connor,M.S., Qin,J. and Songyang,Z.
  TITLE     Telosome, a mammalian telomere-associated complex formed by
            multiple telomeric proteins
  JOURNAL   J Biol Chem 279 (49), 51338-51342 (2004)
   PUBMED   15383534
REFERENCE   9  (bases 1 to 1427)
  AUTHORS   Perlick,H.A., Medghalchi,S.M., Spencer,F.A., Kendzior,R.J. Jr. and
            Dietz,H.C.
  TITLE     Mammalian orthologues of a yeast regulator of nonsense transcript
            stability
  JOURNAL   Proc Natl Acad Sci U S A 93 (20), 10928-10932 (1996)
   PUBMED   8855285
REFERENCE   10 (bases 1 to 1427)
  AUTHORS   Beamer,W.G., Sweet,H.O., Bronson,R.T., Shire,J.G., Orth,D.N. and
            Davisson,M.T.
  TITLE     Adrenocortical dysplasia: a mouse model system for adrenocortical
            insufficiency
  JOURNAL   J Endocrinol 141 (1), 33-43 (1994)
   PUBMED   8014601
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC152826.2.
            
            On Jan 12, 2023 this sequence version replaced NM_001012638.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: AK032683.1, BC138695.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131, SAMN01164139
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-176               AC152826.2         132999-133174
            177-313             AC152826.2         133255-133391
            314-407             AC152826.2         133554-133647
            408-484             AC152826.2         133736-133812
            485-529             AC152826.2         134046-134090
            530-564             AC152826.2         134199-134233
            565-716             AC152826.2         134364-134515
            717-813             AC152826.2         134603-134699
            814-1163            AC152826.2         135131-135480
            1164-1255           AC152826.2         135595-135686
            1256-1427           AC152826.2         135766-135937
FEATURES             Location/Qualifiers
     source          1..1427
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 53.04 cM"
     gene            1..1427
                     /gene="Acd"
                     /note="adrenocortical dysplasia"
                     /db_xref="GeneID:497652"
                     /db_xref="MGI:MGI:87873"
     exon            1..176
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1328
                     /gene="Acd"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="adrenocortical dysplasia protein isoform 1"
                     /protein_id="NP_001012656.1"
                     /db_xref="CCDS:CCDS22608.1"
                     /db_xref="GeneID:497652"
                     /db_xref="MGI:MGI:87873"
                     /translation="MSDSGLLALQPWIRELILGSETLSSPRTGQLLKVLQDSETPGPS
                     SAPDTPDTGAVLLVSDGTHSVRCVVTRNAIDTSDWEEKELGFRGTEGRLLLLQACGLR
                     VQVAQDHAPAEFYLQVDRFNLLPTEQPRIQVTGCNQDSDVQRKLNECLEDHLSESASS
                     SAGLTLSQLLDEVREDQDHRGALVCLAKSCLVLKGPCTTTPLTDWITSGSQALGKAVF
                     TVSGSLLHIPEGEEQILSSTGSSQKARGTSASPSHMPLEESGASVSLLSALATSDPGQ
                     MDSSQSPPAVGSTSPRAQAPTSPPCNSTPSSLLLNCSPSLSPLHPAPRSHQSCETRAQ
                     APKLEFQCSFKKRQLLPRTSAQELCSVWEPPERHRDTSAFQYKYETPSASLHTQVQTA
                     RLSPQLVAWALNIVMESESELTQV"
     exon            177..313
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            314..407
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            408..484
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            485..529
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            530..564
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            565..716
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            717..813
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            814..1163
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1255
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1427
                     /gene="Acd"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Acd"
                     /note="hexamer: AATAAA"
     polyA_site      1427
                     /gene="Acd"
                     /note="major polyA site"
ORIGIN      
        1 ctctcccgct agaggcggag cggcggtgct cgcgggaaga ccctttcctg ggggtcgccc
       61 agggtgccgc cctgctaatg tccgattcag ggttgctggc cctacagccc tggattcgag
      121 agctgatcct aggttcagaa acactgtcaa gtccacgaac cgggcagctg ctcaaggtac
      181 tccaggactc ggagactccc ggcccttctt ccgcccctga cacacctgac accggggccg
      241 tgttacttgt gtcagacgga acccacagtg tccgatgcgt ggtgacgcgc aacgccatcg
      301 acacctccga ctgggaggag aaggagctcg gattccgcgg gaccgagggc cggctcctgc
      361 tactgcaggc ctgcgggctc cgcgttcagg tggctcagga ccatgcgcct gcggagttct
      421 acctccaggt ggatcgcttt aacctgctgc ccacggagca gccccggata caggtgactg
      481 gttgcaatca ggattcagat gtgcagagaa aactcaatga gtgtcttgag gaccacctct
      541 cagagtctgc ttcttccagt gcaggcctaa ccctgtccca gcttctggat gaggtgaggg
      601 aggaccagga tcatcgggga gccctagtgt gtctagctaa gagctgcctg gtgctgaaag
      661 gtccttgtac aaccaccccc ctcaccgact ggatcacctc tggctcccag gccttgggaa
      721 aagctgtgtt cactgtgtct ggctcattgc tgcacatccc tgagggtgag gagcagattt
      781 tgagttctac aggctccagt cagaaggctc ggggaacctc cgcttcaccc agccacatgc
      841 ccctggagga aagtggtgcc agcgttagcc ttctgtcagc cttggctaca tcggaccctg
      901 ggcagatgga cagttcccag tctccaccag ctgttggctc aacctcccca agagctcagg
      961 cccccacttc tccaccctgc aattctacac ccagctccct actcttgaac tgcagcccca
     1021 gtctttcacc ccttcaccct gcccctagat cacaccagtc ctgtgagacc agagctcagg
     1081 ctcctaagct ggagttccag tgctccttca agaaacggca gcttctccca agaaccagcg
     1141 cccaggagct ctgctctgtg tgggaacccc cagagaggca tcgtgatact tctgcattcc
     1201 agtataaata cgagacaccc tctgcctccc tccacaccca ggtccaaact gccaggctct
     1261 ctcctcagct tgtagcttgg gccttgaata tagtgatgga gtcagagtct gagttaaccc
     1321 aggtatgagg agtcactggg acatagcaga ggacacatgg gctgacggac agacagtatt
     1381 ccacgctgtt tcattcaagt tttttaataa aataatttca tgcggca
//
