LOCUS       NM_001256048            3346 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus mastermind-like domain containing 1 (Mamld1),
            transcript variant 2, mRNA.
ACCESSION   NM_001256048
VERSION     NM_001256048.1
KEYWORDS    RefSeq.
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 3346)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3346)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3346)
  AUTHORS   Miyado,M., Yoshida,K., Miyado,K., Katsumi,M., Saito,K.,
            Nakamura,S., Ogata,T. and Fukami,M.
  TITLE     Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm
            Production but Permits Normal Postnatal Androgen Production and
            Fertility
  JOURNAL   Int J Mol Sci 18 (6), 1300 (2017)
   PUBMED   28629181
  REMARK    GeneRIF: MAMLD1 contributes to the maintenance of postnatal
            testicular growth and daily sperm production but is dispensable for
            androgen biosynthesis and fertility.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3346)
  AUTHORS   Miyado,M., Miyado,K., Katsumi,M., Saito,K., Nakamura,A.,
            Shihara,D., Ogata,T. and Fukami,M.
  TITLE     Parturition failure in mice lacking Mamld1
  JOURNAL   Sci Rep 5, 14705 (2015)
   PUBMED   26435405
  REMARK    GeneRIF: MAMLD1 likely participates in functional luteolysis by
            regulating Stat5b and other genes, independent of the PGF2alpha
            signaling pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3346)
  AUTHORS   Moayedi,Y., Basch,M.L., Pacheco,N.L., Gao,S.S., Wang,R.,
            Harrison,W., Xiao,N., Oghalai,J.S., Overbeek,P.A., Mardon,G. and
            Groves,A.K.
  TITLE     The candidate splicing factor Sfswap regulates growth and
            patterning of inner ear sensory organs
  JOURNAL   PLoS Genet 10 (1), e1004055 (2014)
   PUBMED   24391519
REFERENCE   6  (bases 1 to 3346)
  AUTHORS   Miyado,M., Nakamura,M., Miyado,K., Morohashi,K., Sano,S.,
            Nagata,E., Fukami,M. and Ogata,T.
  TITLE     Mamld1 deficiency significantly reduces mRNA expression levels of
            multiple genes expressed in mouse fetal Leydig cells but permits
            normal genital and reproductive development
  JOURNAL   Endocrinology 153 (12), 6033-6040 (2012)
   PUBMED   23087174
  REMARK    GeneRIF: Mamld1 deficiency significantly reduces mRNA expression
            levels of multiple genes expressed in mouse fetal Leydig cells but
            permits normal genital and reproductive development
REFERENCE   7  (bases 1 to 3346)
  AUTHORS   Nakamura,M., Fukami,M., Sugawa,F., Miyado,M., Nonomura,K. and
            Ogata,T.
  TITLE     Mamld1 knockdown reduces testosterone production and Cyp17a1
            expression in mouse Leydig tumor cells
  JOURNAL   PLoS One 6 (4), e19123 (2011)
   PUBMED   21559465
  REMARK    GeneRIF: Mamld1 enhances Cyp17a1 expression primarily in Leydig
            cells and permit to produce a sufficient amount of testosterone for
            male sex development, independently of the Hes3-related
            non-canonical Notch signaling
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3346)
  AUTHORS   Fukami,M., Wada,Y., Okada,M., Kato,F., Katsumata,N., Baba,T.,
            Morohashi,K., Laporte,J., Kitagawa,M. and Ogata,T.
  TITLE     Mastermind-like domain-containing 1 (MAMLD1 or CXorf6)
            transactivates the Hes3 promoter, augments testosterone production,
            and contains the SF1 target sequence
  JOURNAL   J Biol Chem 283 (9), 5525-5532 (2008)
   PUBMED   18162467
  REMARK    GeneRIF: CXorf6 transactivates the Hes3 promoter, augments
            testosterone production
REFERENCE   9  (bases 1 to 3346)
  AUTHORS   Fukami,M., Wada,Y., Miyabayashi,K., Nishino,I., Hasegawa,T.,
            Nordenskjold,A., Camerino,G., Kretz,C., Buj-Bello,A., Laporte,J.,
            Yamada,G., Morohashi,K. and Ogata,T.
  TITLE     CXorf6 is a causative gene for hypospadias
  JOURNAL   Nat Genet 38 (12), 1369-1371 (2006)
   PUBMED   17086185
  REMARK    Erratum:[Nat Genet. 2007 Jan;39(1):131. Nordenskjold, Agneta
            [added]]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY733469.1 and AL731843.14.
            
            Transcript Variant: This variant (2) lacks an in-frame exon,
            compared to variant 1. The resulting protein (isoform 2) is shorter
            than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7345562.708850.1,
                                           SRR11927932.3248626.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-95                BY733469.1         2-96
            96-253              AL731843.14        26083-26240
            254-2167            AL731843.14        42078-43991
            2168-2417           AL731843.14        70783-71032
            2418-2502           AL731843.14        76787-76871
            2503-3346           AL731843.14        78471-79314
FEATURES             Location/Qualifiers
     source          1..3346
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 36.33 cM"
     gene            1..3346
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /note="mastermind-like domain containing 1"
                     /db_xref="GeneID:333639"
                     /db_xref="MGI:MGI:3045303"
     exon            1..94
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            95..253
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..2458
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /note="isoform 2 is encoded by transcript variant 2;
                     mastermind-like domain-containing protein 1"
                     /codon_start=1
                     /product="mastermind-like domain-containing protein 1
                     isoform 2"
                     /protein_id="NP_001242977.1"
                     /db_xref="CCDS:CCDS57760.1"
                     /db_xref="GeneID:333639"
                     /db_xref="MGI:MGI:3045303"
                     /translation="MDDWKSRLVIENMLPHFNMVGNRQETRKLQESGTSKRRQEGENF
                     HFTGMADGSYPNKIKRPCLEDVTLSMGPGAHPTSLSTEMQMPTLNMNPTSADLGVAGQ
                     SLLLENNPLDSNVVNSSAMGSPFGVPSTADTGLKGHAVPYYEKNNSMPAVDQELQDLL
                     EELTKIQEPSSNDLDLEKILGSKPEEPLVLHNPQAPLGPPAKLPVQMPHMESLGSSKE
                     FASSCSQVAGTSLPIMPSSTGMSYSIPSSSKQIVSSSSSTAQAQVKNQVQNMLPVTMP
                     PLSVPQWHHAHQLKALAASKQGSATKQGSNRNWSSLPPPGLSPPYLPVPSPHPPPPQP
                     PPPPFSPQNFTASCMSSSSLSGSAVQSSPNALLSSMAPSSNASLGPTLPYVPAKLPGL
                     PLNQQPQFSPQSSILANLVSSSVKSPQGHLISALPTSTPGPSPPYRPENLSSPGLPQQ
                     SFTPQYSLIRSLTPTSNLLSQQQQQQQQQQQQQQQQQQQQQQQQHQANSIFKPMTSSQ
                     QPKTLSMIMQQGLSSSSPEAPEPFTFSNTKPLSHFVSEPSPQKMASMSTHSRQSSLLH
                     YLPQATPAHAPSATASSTATATLQLQHHHQQHHHQQHHHQQQHHQQQHHQQHHHQQQQ
                     HQQQQHQQQQQQQPDQSSFLLQQIMQQPQRFQRMMASDSMPALPGQTHVDKACKLGEA
                     RPPHVSLGRQPPSRQALGSESFLPGSSFAHELARVTSTSSYNTSEAAPWGGWDPKAWR
                     QVPAPLLPSCDAAAREAEIRSYGNDP"
     exon            254..2167
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2168..2417
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2418..2502
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2503..3346
                     /gene="Mamld1"
                     /gene_synonym="G630014P10Rik"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gggccattag gcgggcgcct gggtaggctg cccgtgccgg cggccgcccg cccctctggc
       61 tctgccctgg ctgctgctgg agctccgcaa cacgccctgt gtctaggtcg tttggaaaac
      121 gccttggaga gtcaagaata aaattgcagg tcaaacaatg gatgactgga aaagtcggct
      181 tgtaatcgag aacatgcttc cccatttcaa catggtggga aatcgtcagg agaccagaaa
      241 gctccaggaa tcgggaacca gtaagagaag acaggaagga gagaacttcc acttcacagg
      301 catggctgat gggagctatc ctaataaaat caagagacct tgccttgaag atgtcaccct
      361 gtctatgggc ccaggtgccc accctacttc tctctctaca gagatgcaga tgcccacatt
      421 aaacatgaat cccacttctg cagacctggg agtggctggc caatcattac tccttgagaa
      481 caaccctctg gacagtaatg ttgtgaatag cagtgctatg ggctcaccat ttggggtgcc
      541 atcaactgca gacacggggc tgaaaggaca tgctgttcct tactatgaga aaaacaacag
      601 tatgccagct gtagaccaag agcttcaaga tctgctggag gaactaacca aaattcaaga
      661 accttcttca aatgatcttg accttgagaa gattctgggg agcaagccag aagaacctct
      721 ggttttacat aacccccagg cccctcttgg tccccctgcc aagcttccag ttcagatgcc
      781 acatatggaa agccttggat ccagcaagga gtttgcatct agctgcagtc aagttgctgg
      841 cacatcacta cccatcatgc cctcctccac agggatgagc tactccattc cttccagcag
      901 taagcagata gtctcatcca gttcttcaac agcacaggct caggtcaaaa accaggtcca
      961 gaacatgctc cctgtcacta tgcctccatt atctgtgcct cagtggcatc atgcccacca
     1021 gctgaaagca ctggcagcca gcaagcaggg atctgctaca aaacaaggtt ccaaccgcaa
     1081 ttggtccagt ttgcctcctc cgggtctttc tccaccttac cttccagtgc catctcctca
     1141 cccaccacca ccacaaccac caccaccacc attcagccca cagaacttca cagcatcctg
     1201 catgtcatcc agtagcttat ctggcagtgc tgtgcaaagc tcgcccaatg ccttactttc
     1261 cagcatggcc cccagcagca atgcttccct tgggcccacc ttgccctatg ttccagcaaa
     1321 gctcccgggc ttgcctctca atcagcaacc acaattcagc ccccagagct ccattcttgc
     1381 caatctggtg tcctctagtg tcaaaagccc tcaaggacac ctgatatctg ctctgcctac
     1441 cagcacccca gggccatccc caccataccg ccctgagaat ctctccagcc ccggcttgcc
     1501 acagcagtcc ttcactccac aatactctct gatcaggagc ctcactccca ccagcaatct
     1561 gctaagccag cagcagcaac aacagcaaca gcagcagcag cagcagcagc agcagcagca
     1621 gcagcaacag cagcagcagc atcaggcaaa ttccatcttt aagcctatga ccagcagcca
     1681 gcaacctaaa accttgagca tgatcatgca gcagggccta tcaagttcca gtccagaagc
     1741 acctgagccc tttaccttca gcaacaccaa gcccttgtca cattttgttt ctgagccaag
     1801 cccccagaag atggcctcca tgtctaccca ctccaggcag tcatctttgc tccactacct
     1861 gcctcaggca acaccagcac atgctccttc tgccactgcc tcctccactg ccactgccac
     1921 tttgcaactc cagcatcatc atcaacagca tcatcatcaa cagcatcatc atcaacagca
     1981 gcatcatcaa caacagcatc atcaacagca tcatcatcaa cagcagcagc atcaacagca
     2041 gcagcatcaa caacaacagc agcagcaacc tgatcagtct tcattccttc tgcagcagat
     2101 aatgcagcaa ccccagcgct ttcagcgcat gatggcttct gattctatgc ctgctctgcc
     2161 tggacagact catgtagaca aagcctgcaa gcttggggaa gccaggcctc cccatgtcag
     2221 cctggggcga cagcccccat cccgccaggc cctggggagt gagtccttcc tgcccggcag
     2281 ctcctttgct catgagctgg cccgagtcac atccacctcc tcgtacaaca cctcagaggc
     2341 agccccctgg ggcggctggg atccgaaggc ctggaggcag gtgcctgctc cactactgcc
     2401 tagctgcgat gctgcagcca gagaagcaga gatcaggtcc tatggcaatg acccctaaac
     2461 agcagaatgt gtgtatcgct cagcagatga ctcaatttca agcagtacaa gaacaagtca
     2521 tctccaagtg taatcaaacc aagaagagtc ccccatccaa ccagcaaaag atgccaccca
     2581 aaaatgagct ccttcaggac aatcagattc caagaatatt accacccaca agtcacatgg
     2641 gtcatcaact ctgaagaagc agcaaatcaa caccggcctt ccatttccca tctcctcagg
     2701 cttgggtcag gatcccctga atagtcttgg ctctgtctgt cccaaagcca aggccatacc
     2761 cttagaagtg cccctgtcca agctctgtat aagtctcctg ggcagccaat ccttgactcc
     2821 ccaccaactc agtctcccca gtgtgccaat gatgtcttca gtgttcagta atgcagtctg
     2881 gacagtggca gctgcagctg tagccacgcc agtttcaaag gaatcacccc tgagccaagt
     2941 agataataga attgtgccgc attttgatag caactccatc atctttgcca aggcacccag
     3001 gagtatacat acccccaaca gatctagtat ttccgtctca gaaggttgtg gttcaggcca
     3061 atcagatggc cccaggagcc aggcctggcc agaaggtgtg tgctgctctg gccagccaca
     3121 gattcagcct actgggcaat cagaaccttg tgcagaaccc agcacagggg cccgtgcctg
     3181 tgttgagcac caagtccctc caacagagca tagccagctg ctctcccatg agtcctattc
     3241 agggactaga gcctccaagc tatgcagctg ctactgctgc tactagccag tccctaggta
     3301 cattgattag aatgggcaca tcccctgaga cacaggacaa tgtctg
//
