LOCUS       NM_005491               4816 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens mastermind like domain containing 1 (MAMLD1),
            transcript variant 2, mRNA.
ACCESSION   NM_005491 XM_024452319 XM_926451 XM_937736
VERSION     NM_005491.5
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 4816)
  AUTHORS   Wu,F.Y., Yang,R.M., Zhang,H.Y., Zhan,M., Tu,P.H., Fang,Y.,
            Zhang,C.X., Song,S.Y., Dong,M., Cui,R.J., Liu,X.Y., Yang,L.,
            Yan,C.Y., Sun,F., Zhang,R.J., Wang,Z., Liang,J., Song,H.D.,
            Cheng,F. and Zhao,S.X.
  TITLE     Pathogenic variations in MAML2 and MAMLD1 contribute to congenital
            hypothyroidism due to dyshormonogenesis by regulating the Notch
            signalling pathway
  JOURNAL   J Med Genet 60 (9), 874-884 (2023)
   PUBMED   36898841
  REMARK    GeneRIF: Pathogenic variations in MAML2 and MAMLD1 contribute to
            congenital hypothyroidism due to dyshormonogenesis by regulating
            the Notch signalling pathway.
REFERENCE   2  (bases 1 to 4816)
  AUTHORS   Miyado,M., Fukami,M. and Ogata,T.
  TITLE     MAMLD1 and Differences/Disorders of Sex Development: An Update
  JOURNAL   Sex Dev 16 (2-3), 126-137 (2022)
   PUBMED   34695834
  REMARK    GeneRIF: MAMLD1 and Differences/Disorders of Sex Development: An
            Update.
            Review article
REFERENCE   3  (bases 1 to 4816)
  AUTHORS   Wang,A., Neill,S.G., Newman,S., Tryfonidou,M.A., Ioachimescu,A.,
            Rossi,M.R., Meij,B.P. and Oyesiku,N.M.
  TITLE     The genomic profiling and MAMLD1 expression in human and canines
            with Cushing's disease
  JOURNAL   BMC Endocr Disord 21 (1), 185 (2021)
   PUBMED   34517852
  REMARK    GeneRIF: The genomic profiling and MAMLD1 expression in human and
            canines with Cushing's disease.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4816)
  AUTHORS   Gao,F., Gong,C. and Li,L.
  TITLE     [Advance in research on the role of MAMLD1 gene in disorders of sex
            development]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38 (9), 912-916 (2021)
   PUBMED   34487543
  REMARK    GeneRIF: [Advance in research on the role of MAMLD1 gene in
            disorders of sex development].
            Review article
REFERENCE   5  (bases 1 to 4816)
  AUTHORS   Li,L., Gao,F., Fan,L., Su,C., Liang,X. and Gong,C.
  TITLE     Disorders of Sex Development in Individuals Harbouring MAMLD1
            Variants: WES and Interactome Evidence of Oligogenic Inheritance
  JOURNAL   Front Endocrinol (Lausanne) 11, 582516 (2020)
   PUBMED   33424767
  REMARK    GeneRIF: Disorders of Sex Development in Individuals Harbouring
            MAMLD1 Variants: WES and Interactome Evidence of Oligogenic
            Inheritance.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4816)
  AUTHORS   O'Shaughnessy,P.J., Baker,P.J., Monteiro,A., Cassie,S.,
            Bhattacharya,S. and Fowler,P.A.
  TITLE     Developmental changes in human fetal testicular cell numbers and
            messenger ribonucleic acid levels during the second trimester
  JOURNAL   J Clin Endocrinol Metab 92 (12), 4792-4801 (2007)
   PUBMED   17848411
REFERENCE   7  (bases 1 to 4816)
  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    GeneRIF: identified three different nonsense mutations of CXorf6 in
            individuals with hypospadias
            Erratum:[Nat Genet. 2007 Jan;39(1):131. Nordenskjold, Agneta
            [added]]
REFERENCE   8  (bases 1 to 4816)
  AUTHORS   Laporte,J., Kioschis,P., Hu,L.J., Kretz,C., Carlsson,B.,
            Poustka,A., Mandel,J.L. and Dahl,N.
  TITLE     Cloning and characterization of an alternatively spliced gene in
            proximal Xq28 deleted in two patients with intersexual genitalia
            and myotubular myopathy
  JOURNAL   Genomics 41 (3), 458-462 (1997)
   PUBMED   9169146
  REMARK    GeneRIF: The identification and genomic characterization of the F18
            (MAMLD1) gene in human
REFERENCE   9  (bases 1 to 4816)
  AUTHORS   Laporte,J., Hu,L.J., Kretz,C., Mandel,J.L., Kioschis,P., Coy,J.F.,
            Klauck,S.M., Poustka,A. and Dahl,N.
  TITLE     A gene mutated in X-linked myotubular myopathy defines a new
            putative tyrosine phosphatase family conserved in yeast
  JOURNAL   Nat Genet 13 (2), 175-182 (1996)
   PUBMED   8640223
REFERENCE   10 (bases 1 to 4816)
  AUTHORS   Hu,L.J., Laporte,J., Kress,W., Kioschis,P., Siebenhaar,R.,
            Poustka,A., Fardeau,M., Metzenberg,A., Janssen,E.A., Thomas,N.,
            Mandel,J.L. and Dahl,N.
  TITLE     Deletions in Xq28 in two boys with myotubular myopathy and abnormal
            genital development define a new contiguous gene syndrome in a 430
            kb region
  JOURNAL   Hum Mol Genet 5 (1), 139-143 (1996)
   PUBMED   8789451
  REMARK    GeneRIF: Deletion of the F18 (MAMLD1) and MTM1 genes in two
            patients with congenital myopathy and hypospadias
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC235697.3, AC235953.3 and
            AC136957.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Nov 16, 2020 this sequence version replaced
            XM_024452319.1, NM_005491.4.
            
            Summary: This gene encodes a mastermind-like domain containing
            protein. This protein may function as a transcriptional
            co-activator. Mutations in this gene are the cause of X-linked
            hypospadias type 2. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2010].
            
            Transcript Variant: This variant (2) has a shorter 5' UTR and has
            multiple differences in the coding region, compared to variant 1,
            one of which results in a translational frameshift. The resulting
            protein (isoform 2) has a distinct C-terminus and is shorter than
            isoform 1. Variants 2 and 7 encode the same isoform (2).
            
            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 :: SRR14038191.312514.1,
                                           SRR14038197.2555494.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370401.7/ ENSP00000359428.2
            RefSeq Select criteria :: based on manual assertion
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-214               AC235697.3         48352-48565         c
            215-373             AC235953.3         101221-101379
            374-448             AC235953.3         118539-118613
            449-2194            AC235953.3         125512-127257
            2195-2317           AC235953.3         129447-129569
            2318-2561           AC235953.3         159041-159284
            2562-2646           AC235953.3         165729-165813
            2647-4816           AC136957.1         64646-66815
FEATURES             Location/Qualifiers
     source          1..4816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..4816
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /note="mastermind like domain containing 1"
                     /db_xref="GeneID:10046"
                     /db_xref="HGNC:HGNC:2568"
                     /db_xref="MIM:300120"
     exon            1..214
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     exon            215..373
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             278..2602
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /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_005482.2"
                     /db_xref="CCDS:CCDS14693.2"
                     /db_xref="GeneID:10046"
                     /db_xref="HGNC:HGNC:2568"
                     /db_xref="MIM:300120"
                     /translation="MDDWKSRLVIKSMLPHFAMVGNRQEPRKLQESGKKPSWMEEEDL
                     SFLYKSSPGRKHQGTVKRRQEEDHFQFPDMADGGYPNKIKRPCLEDVTLAMGPGAHPS
                     TACAELQVPPLTINPSPAAMGVAGQSLLLENNPMNGNIMGSPFVVPQTTEVGLKGPTV
                     PYYEKINSVPAVDQELQELLEELTKIQDPSPNELDLEKILGTKPEEPLVLDHPQATLS
                     TTPKPSVQMSHLESLASSKEFASSCSQVTGMSLQIPSSSTGISYSIPSTSKQIVSPSS
                     SMAQSKSQVQAMLPVALPPLPVPQWHHAHQLKALAASKQGSATKQQGPTPSWSGLPPP
                     GLSPPYRPVPSPHPPPLPLPPPPPPFSPQSLMVSCMSSNTLSGSTLRGSPNALLSSMT
                     SSSNAALGPAMPYAPEKLPSPALTQQPQFGPQSSILANLMSSTIKTPQGHLMSALPAS
                     NPGPSPPYRPEKLSSPGLPQQSFTPQCSLIRSLTPTSNLLSQQQQQQQQQQQANVIFK
                     PISSNSSKTLSMIMQQGMASSSPGATEPFTFGNTKPLSHFVSEPGPQKMPSMPTTSRQ
                     PSLLHYLQQPTPTQASSATASSTATATLQLQQQQQQQQQQPDHSSFLLQQMMQQPQRF
                     QRSVASDSMPALPRQGCCHLFAWTSAASSVKPQHQHGNSFTSRQDPQPGDVSPSNITH
                     VDKACKLGEARHPQVSLGRQPPSCQALGSESFLPGSSFAHELARVTSSYSTSEAAPWG
                     SWDPKAWRQVPAPLLPSCDATARGTEIRSYGNDP"
     exon            374..448
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     exon            449..2194
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2195..2317
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2318..2561
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2562..2646
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2647..4816
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4797..4802
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /note="hexamer: AATAAA"
     polyA_site      4816
                     /gene="MAMLD1"
                     /gene_synonym="CG1; CXorf6; F18; HYSP2"
                     /note="major polyA site"
ORIGIN      
        1 agattgaggc cgccactgca gcgccgccag catgaacttg gccgcgagct gaagcggccg
       61 gcggcgggcg ggcgcggggg caccggccgc tagccagggg gtgatctgca acagggctgg
      121 gttccttggc ggccgcctga gtccaggctg cccgcgccgg cggccgcccg cccctcggac
      181 actgcccccg ccgccgccgg agctctgcag cacgccctgt gtctaggtcg tttgggaaac
      241 gccttggaga gtcaagaata aatttgcagg tcaaacaatg gatgactgga aaagtcggct
      301 tgtaatcaag agcatgcttc cccatttcgc catggtggga aatcgtcagg agcccagaaa
      361 gctccaggaa tcgggaaaga agccctcgtg gatggaggaa gaagatttat cttttctcta
      421 caagagcagc ccaggaagaa agcatcaggg aactgttaag aggagacaag aagaagacca
      481 cttccagttt ccagacatgg ctgatggggg ctaccctaat aaaattaaga ggccttgcct
      541 tgaagatgtc acccttgcaa tgggcccagg tgctcatcct agtactgctt gtgcagaact
      601 gcaggtccct ccattgacaa taaatcctag ccctgcggct atgggagtgg ctggccagtc
      661 attactgctg gagaataacc ctatgaatgg caacatcatg ggctcaccat ttgtagtacc
      721 acagactaca gaagtgggac tgaaagggcc cactgttcct tactatgaga aaatcaacag
      781 cgtgccggct gtagaccagg agcttcaaga gctgctagag gagctcacca aaattcaaga
      841 cccttctcca aatgagctag atcttgagaa gatactgggg acgaagccag aagagccact
      901 ggttttagat catccccagg caaccctaag cacaactccc aagccttcgg ttcagatgtc
      961 acacttggag agcctggctt ccagcaagga gtttgcttct agttgcagcc aagttactgg
     1021 catgtcactt cagatcccat cctcctccac agggatcagc tattcgattc cttccaccag
     1081 taagcagata gtgtcaccga gttcttcaat ggcacagtcc aagagccagg tccaggccat
     1141 gctccctgtc gctctgcccc ccttaccagt gcctcagtgg catcacgccc accagctgaa
     1201 ggcgttggca gccagcaagc aggggtctgc tacaaagcag caagggccca cccccagttg
     1261 gtctggtctg cctcctccag gactctctcc accttaccgc ccagtgccat caccacaccc
     1321 accaccgctg ccactgccac caccaccacc cccattcagc ccccagagcc tcatggtgtc
     1381 ctgcatgtcg tccaatacct tgtcgggtag cactctccga ggctctccca atgccttact
     1441 gtcaagcatg acgtccagca gcaatgctgc cctggggccc gccatgccct atgctcctga
     1501 gaagctcccc agccctgctc tcactcaaca gccgcagttc ggccctcaga gctccattct
     1561 tgccaacctc atgtcctcta ccatcaaaac ccctcaagga cacctgatgt ctgctctgcc
     1621 tgccagcaac cctgggccgt ccccacccta tcgcccagag aagctctcta gcccaggctt
     1681 gccacagcag tccttcaccc cacagtgttc cctgatccga agcctcactc ccaccagtaa
     1741 tcttctaagc cagcaacagc agcagcagca gcagcagcag caagcaaatg tgatctttaa
     1801 gcccataagc agcaactcat ccaaaaccct gagcatgatc atgcagcagg ggatggcaag
     1861 ctccagccca ggagccacgg agccatttac ttttggcaac accaagccct tgtcccattt
     1921 tgtttctgag ccgggtcccc agaagatgcc ctccatgcct accacctcta ggcagccttc
     1981 cctgctccac tacctgcagc agccgacacc aacgcaggcc tcctcagcca ctgcctcctc
     2041 cacggccact gccaccttgc agctgcagca gcagcagcag caacagcagc agcagcctga
     2101 ccattcttca ttccttctgc agcagatgat gcagcaaccc cagcgttttc agcgatcagt
     2161 ggcctcagat tccatgcctg ctctgcccag acagggctgt tgccatctgt ttgcatggac
     2221 ttctgcagct agctcggtga agccccagca tcaacacggg aactctttca ctagcaggca
     2281 agatcctcag cctggagacg tgtcaccgtc taacattact catgtagaca aagcctgcaa
     2341 gcttggggaa gccaggcacc cccaggtcag cctcgggcga cagcccccgt cctgccaggc
     2401 cctggggagt gagtccttcc tgcccggcag ctcctttgct catgagctgg cccgagtcac
     2461 ctcctcgtac agcacctcag aggcagcgcc ctggggcagc tgggatccga aggcctggag
     2521 gcaggtgccc gctccactac tgcctagctg cgacgccaca gcaagaggaa cagagatcag
     2581 gtcttatggc aatgacccct gaacggcaga atgcatatat ctcccaacag atgagtccat
     2641 ttgaagccgt ccaagaacaa gtcacctcca agtgtagccg gatcaaggca agccccccat
     2701 ctagcaagca cttgatgcca cccagaactg ggcttcttca gaacaatctg agtccaggaa
     2761 tgatcccact caccaggcac cagagctgcg agggcatggg agtgatctca ccaactctgg
     2821 ggaagcggca aggaattttc acctccagcc cccagtgtcc catcctctca cactcaggcc
     2881 agactcccct gggcagactt gactctgtct gccagcatat gcagagtccc aaggccaccc
     2941 caccagaagt gcccctgcct gggttctgtc ccagctccct gggcacccag tccttgagtc
     3001 cccaccagct cagacggcct agtgtgccaa gaatgcccac tgcgttcaac aatgctgcat
     3061 gggtcacagc ggcagcagct gtgaccacag cagtttcggg gaaaacaccc ctcagccaag
     3121 tggataatag cgttcagcag cactcacctt ctggccaggc ctgccttcag aggccatctg
     3181 attgggaggc acaagtgccc gctgcgatgg gaacacaagt gcccctggcc aacaacccca
     3241 gcttcagcct gctgggcagc cagagcctca ggcagagccc ggtacagggc ccggtgcctg
     3301 tagcaaacac caccaagttc ctccagcagg gtatggccag ctttagtccc ctgagcccca
     3361 tacagggcat cgagccacca agctatgtgg ctgctgctgc caccgctgct gctgcttctg
     3421 ccgttgctgc cagccagttc ccaggtccgt tcgacagaac ggatattccc cctgagctgc
     3481 cacctgccga ctttttgcgc cagccccaac ccccactaaa tgatctgatt tcgtcacctg
     3541 actgcaatga ggtagatttc attgaagctc tcttgaaagg ctcctgtgtg agcccagatg
     3601 aagactgggt gtgcaacttg aggctgatcg acgacatttt ggaacagcat gctgctgctc
     3661 aaaatgccac agcccagaat tctgggcaag tcacccagga tgctggggca ctttaaatct
     3721 gagcaggatg cccatagaaa cccccatggt gacatcactc taggaagtgg tgtcgatcca
     3781 tacccgcagt tgtctcccgt tacaatttga gtggtgttgt cagcccatgc ttatccctct
     3841 ctctacctgt gacaaaatgg aaagctggtg atttttcaag ctacgtgtac atatttgaaa
     3901 attttgtaaa tggttttcct aaacattaat gacagaagta tttatacttc attttgtgac
     3961 tttgtaaata aagcgacggc ttttgtttca gtagagttgt gtttactatg cattgttttg
     4021 tgtttattat acaatgttac aaatatgcag accgtgttgt ttgctccagt gataccttgt
     4081 taagctaggt ggctgagtcg cttatggttt taatgcaatg agcaatgtgg atatgaccaa
     4141 gagttgttgt gcaagttgac aaatgccaaa tagaaaacca cttggccatt tatttctatg
     4201 ttcactaaaa atcctattgc cttgtgtgat tcttaatctc ttttgcgaac ctttcagtct
     4261 ccgctagctc tttcctaatg agctttacag cagaagccgt tttatcgtta agtgccccac
     4321 agagacactt taccaggagg ctgggagagt tctccagatt tgggagaggc gcagagacag
     4381 tgtgtgagcc gagccctgtc tcagcaatcc acctggagga gctagagtat cctcctccct
     4441 ttaccattca gaccgagaga aaaagcccag cttgtgtgca ccctcgtggg gttaaggcga
     4501 gctgttcctg gtttaaagcc tttcagtatt tgttttgatg taaggctctg tggtttgggg
     4561 gggaacatct gtaaacatta ttagttgatt tggggtttgt ctttgatggt ttctatctgc
     4621 aattatcgtc atgtatattt aagtgtctgt tatagaaaac ccacacccac tgtcctgtaa
     4681 acttttctca gtgtccagac tttctgtaat cacattttaa ttgccacctc gtatttcacc
     4741 tctacatttg aaatctggcg tctgtttcaa gccagtgtgt tttttcttcg ttctgtaata
     4801 aacagccagg agaaaa
//
