LOCUS       NM_000479               1809 bp    mRNA    linear   PRI 23-MAR-2024
DEFINITION  Homo sapiens anti-Mullerian hormone (AMH), mRNA.
ACCESSION   NM_000479
VERSION     NM_000479.5
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 1809)
  AUTHORS   Wang,P., Qi,L., Yang,N., Xue,Y., Zhou,J., Wu,Y., Wang,T. and Cui,L.
  TITLE     Lower serum AMH concentration is correlated with serum IgG1
            decreased in the infertile woman: A real-world retrospective study
  JOURNAL   Clin Chim Acta 555, 117807 (2024)
   PUBMED   38286181
  REMARK    GeneRIF: Lower serum AMH concentration is correlated with serum
            IgG1 decreased in the infertile woman: A real-world retrospective
            study.
REFERENCE   2  (bases 1 to 1809)
  AUTHORS   Guo,G., Zheng,H. and Wu,X.
  TITLE     Association of anti-Mullerian hormone and insulin resistance in
            adolescent girls with polycystic ovary syndrome
  JOURNAL   Endokrynol Pol 75 (1), 83-88 (2024)
   PUBMED   38497393
  REMARK    GeneRIF: Association of anti-Mullerian hormone and insulin
            resistance in adolescent girls with polycystic ovary syndrome.
REFERENCE   3  (bases 1 to 1809)
  AUTHORS   Jiang,M., Gao,Y., Qu,T., Ji,Y., Niu,Y., Zhang,J. and Huang,L.
  TITLE     Dose inhibin B or anti-Mullerian hormone relate to precocious
            puberty in girls? result of a systematic review and meta-analysis
  JOURNAL   J Ovarian Res 16 (1), 227 (2023)
   PUBMED   37996919
  REMARK    GeneRIF: Dose inhibin B or anti-Mullerian hormone relate to
            precocious puberty in girls? result of a systematic review and
            meta-analysis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1809)
  AUTHORS   McLennan,I.S. and Pankhurst,M.W.
  TITLE     Anti-Mullerian hormone is a gonadal cytokine with two circulating
            forms and cryptic actions
  JOURNAL   J Endocrinol 226 (3), R45-R57 (2015)
   PUBMED   26163524
  REMARK    Review article
REFERENCE   5  (bases 1 to 1809)
  AUTHORS   Carre-Eusebe,D., Imbeaud,S., Harbison,M., New,M.I., Josso,N. and
            Picard,J.Y.
  TITLE     Variants of the anti-Mullerian hormone gene in a compound
            heterozygote with the persistent Mullerian duct syndrome and his
            family
  JOURNAL   Hum Genet 90 (4), 389-394 (1992)
   PUBMED   1483695
REFERENCE   6  (bases 1 to 1809)
  AUTHORS   Whitman,G.F. and Pantazis,C.G.
  TITLE     Cellular localization of mullerian inhibiting substance messenger
            ribonucleic acid during human ovarian follicular development
  JOURNAL   Am J Obstet Gynecol 165 (6 Pt 1), 1881-1886 (1991)
   PUBMED   1750488
REFERENCE   7  (bases 1 to 1809)
  AUTHORS   Knebelmann,B., Boussin,L., Guerrier,D., Legeai,L., Kahn,A.,
            Josso,N. and Picard,J.Y.
  TITLE     Anti-Mullerian hormone Bruxelles: a nonsense mutation associated
            with the persistent Mullerian duct syndrome
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3767-3771 (1991)
   PUBMED   2023927
REFERENCE   8  (bases 1 to 1809)
  AUTHORS   Guerrier,D., Boussin,L., Mader,S., Josso,N., Kahn,A. and
            Picard,J.Y.
  TITLE     Expression of the gene for anti-Mullerian hormone
  JOURNAL   J Reprod Fertil 88 (2), 695-706 (1990)
   PUBMED   2325025
REFERENCE   9  (bases 1 to 1809)
  AUTHORS   Pepinsky,R.B., Sinclair,L.K., Chow,E.P., Mattaliano,R.J.,
            Manganaro,T.F., Donahoe,P.K. and Cate,R.L.
  TITLE     Proteolytic processing of mullerian inhibiting substance produces a
            transforming growth factor-beta-like fragment
  JOURNAL   J Biol Chem 263 (35), 18961-18964 (1988)
   PUBMED   2974034
REFERENCE   10 (bases 1 to 1809)
  AUTHORS   Cate,R.L., Mattaliano,R.J., Hession,C., Tizard,R., Farber,N.M.,
            Cheung,A., Ninfa,E.G., Frey,A.Z., Gash,D.J., Chow,E.P. et al.
  TITLE     Isolation of the bovine and human genes for Mullerian inhibiting
            substance and expression of the human gene in animal cells
  JOURNAL   Cell 45 (5), 685-698 (1986)
   PUBMED   3754790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005263.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000479.4.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate N- and C-terminal cleavage
            products that homodimerize and associate to form a biologically
            active noncovalent complex. This complex binds to the
            anti-Mullerian hormone receptor type 2 and causes the regression of
            Mullerian ducts in the male embryo that would otherwise
            differentiate into the uterus and fallopian tubes. This protein
            also plays a role in Leydig cell differentiation and function and
            follicular development in adult females. Mutations in this gene
            result in persistent Mullerian duct syndrome. [provided by RefSeq,
            Jul 2016].
            
            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 :: BC049194.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221496.5/ ENSP00000221496.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-422               AC005263.1         30214-30635
            423-565             AC005263.1         31228-31370
            566-674             AC005263.1         31543-31651
            675-834             AC005263.1         31740-31899
            835-1809            AC005263.1         31990-32964
FEATURES             Location/Qualifiers
     source          1..1809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1809
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="anti-Mullerian hormone"
                     /db_xref="GeneID:268"
                     /db_xref="HGNC:HGNC:464"
                     /db_xref="MIM:600957"
     exon            1..422
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..1693
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="Mullerian inhibiting factor; Mullerian inhibiting
                     substance; anti-Muellerian hormone; muellerian-inhibiting
                     substance; muellerian-inhibiting factor"
                     /codon_start=1
                     /product="muellerian-inhibiting factor preproprotein"
                     /protein_id="NP_000470.3"
                     /db_xref="CCDS:CCDS12085.1"
                     /db_xref="GeneID:268"
                     /db_xref="HGNC:HGNC:464"
                     /db_xref="MIM:600957"
                     /translation="MRDLPLTSLALVLSALGALLGTEALRAEEPAVGTSGLIFREDLD
                     WPPGSPQEPLCLVALGGDSNGSSSPLRVVGALSAYEQAFLGAVQRARWGPRDLATFGV
                     CNTGDRQAALPSLRRLGAWLRDPGGQRLVVLHLEEVTWEPTPSLRFQEPPPGGAGPPE
                     LALLVLYPGPGPEVTVTRAGLPGAQSLCPSRDTRYLVLAVDRPAGAWRGSGLALTLQP
                     RGEDSRLSTARLQALLFGDDHRCFTRMTPALLLLPRSEPAPLPAHGQLDTVPFPPPRP
                     SAELEESPPSADPFLETLTRLVRALRVPPARASAPRLALDPDALAGFPQGLVNLSDPA
                     ALERLLDGEEPLLLLLRPTAATTGDPAPLHDPTSAPWATALARRVAAELQAAAAELRS
                     LPGLPPATAPLLARLLALCPGGPGGLGDPLRALLLLKALQGLRVEWRGRDPRGPGRAQ
                     RSAGATAADGPCALRELSVDLRAERSVLIPETYQANNCQGVCGWPQSDRNPRYGNHVV
                     LLLKMQVRGAALARPPCCVPTAYAGKLLISLSEERISAHHVPNMVATECGCR"
     exon            423..565
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /inference="alignment:Splign:2.1.0"
     exon            566..674
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /inference="alignment:Splign:2.1.0"
     exon            675..834
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /inference="alignment:Splign:2.1.0"
     exon            835..1809
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1786..1791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="hexamer: AATAAA"
     polyA_site      1809
                     /gene="AMH"
                     /gene_synonym="MIF; MIS"
                     /note="major polyA site"
ORIGIN      
        1 agcacccacg atgcgggacc tgcctctcac cagcctggcc ctagtgctgt ctgccctggg
       61 ggctctgctg gggactgagg ccctcagagc agaggagcca gctgtgggca ccagtggcct
      121 catcttccga gaagacttgg actggcctcc aggcagccca caagagcctc tgtgcctggt
      181 ggcactgggc ggggacagca atggcagcag ctcccccctg cgggtggtgg gggctctaag
      241 cgcctatgag caggccttcc tgggggccgt gcagagggcc cgctggggcc cccgagacct
      301 ggccaccttc ggggtctgca acaccggtga caggcaggct gccttgccct ctctacggcg
      361 gctgggggcc tggctgcggg accctggggg gcagcgcctg gtggtcctac acctggagga
      421 agtgacctgg gagccaacac cctcgctgag gttccaggag cccccgcctg gaggagctgg
      481 ccccccagag ctggcgctgc tggtgctgta ccctgggcct ggccctgagg tcactgtgac
      541 gagggctggg ctgccgggtg cccagagcct ctgcccctcc cgagacaccc gctacctggt
      601 gttagcggtg gaccgccctg cgggggcctg gcgcggctcc gggctggcct tgaccctgca
      661 gccccgcgga gaggactccc ggctgagtac cgcccggctg caggcactgc tgttcggcga
      721 cgaccaccgc tgcttcacac ggatgacccc ggccctgctc ctgctgccgc ggtccgagcc
      781 cgcgccgctg cctgcgcacg gccagctgga caccgtgccc ttcccgccgc ccaggccatc
      841 cgcggaactc gaggagtcgc cacccagcgc agaccccttc ctggagacgc tcacgcgcct
      901 ggtgcgggcg ctgcgggtcc ccccggcccg ggcctccgcg ccgcgcctgg ccctggatcc
      961 ggacgcgctg gccggcttcc cgcagggcct agtcaacctg tcggaccccg cggcgctgga
     1021 gcgcctactc gacggcgagg agccgctgct gctgctgctg aggcccactg cggccaccac
     1081 cggggatcct gcgcccctgc acgaccccac gtcggcgccg tgggccacgg ccctggcgcg
     1141 ccgcgtggct gctgaactgc aagcggcggc tgccgagctg cgaagcctcc cgggtctgcc
     1201 tccggccaca gccccgctgc tggcgcgcct gctcgcgctc tgcccaggtg gccccggcgg
     1261 cctcggcgat cccctgcgag cgctgctgct cctgaaggcg ctgcagggcc tgcgcgtgga
     1321 gtggcgcggg cgggatccgc gcgggccggg tcgggcacag cgcagcgcgg gggccaccgc
     1381 cgccgacggg ccgtgcgcgc tgcgcgagct cagcgtagac ctccgcgccg agcgctccgt
     1441 actcatcccc gagacctacc aggccaacaa ttgccagggc gtgtgcggct ggcctcagtc
     1501 cgaccgcaac ccgcgctacg gcaaccacgt ggtgctgctg ctgaagatgc aggtccgtgg
     1561 ggccgccctg gcgcgcccac cctgctgcgt gcccaccgcc tacgcgggca agctgctcat
     1621 cagcctgtcg gaggagcgca tcagcgcgca ccacgtgccc aacatggtgg ccaccgagtg
     1681 tggctgccgg tgacccctgc gccgcgcgga ctcctgcccc gagggtccgg acgcgcccca
     1741 gctcgcgccc cttcccatat ttattcggac cccaagcatc gccccaataa agaccagcaa
     1801 gcaaccggc
//
