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Muellerian-inhibiting factor (Anti-Muellerian hormone) (AMH) (Muellerian-inhibiting substance) (MIS)

 MIS_HUMAN               Reviewed;         560 AA.
P03971; O75246; Q6GTN3;
23-OCT-1986, integrated into UniProtKB/Swiss-Prot.
30-NOV-2010, sequence version 3.
25-OCT-2017, entry version 176.
RecName: Full=Muellerian-inhibiting factor;
AltName: Full=Anti-Muellerian hormone;
Short=AMH;
AltName: Full=Muellerian-inhibiting substance;
Short=MIS;
Flags: Precursor;
Name=AMH; Synonyms=MIF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ILE-49 AND ALA-515.
PubMed=3754790; DOI=10.1016/0092-8674(86)90783-X;
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., Fisher R.A.,
Bertonis J.M., Torres G., Wallner B.P., Ramachandran K.L., Ragin R.C.,
Manganaro T.F., McLaughlin D.T., Donahoe P.K.;
"Isolation of the bovine and human genes for Mullerian inhibiting
substance and expression of the human gene in animal cells.";
Cell 45:685-698(1986).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057824; DOI=10.1038/nature02399;
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
Rubin E.M., Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-515.
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
VARIANT ARG-325.
PubMed=1483695; DOI=10.1007/BF00220465;
Carre-Eusebe D., Imbeaud S., Harbison M., New M.I., Josso N.,
Picard J.-Y.;
"Variants of the anti-Mullerian hormone gene in a compound
heterozygote with the persistent Mullerian duct syndrome and his
family.";
Hum. Genet. 90:389-394(1992).
[5]
VARIANTS PMDS1 GLY-12; PRO-70; VAL-101; TRP-123; CYS-167; CYS-194 AND
ALA-477.
PubMed=8162013; DOI=10.1093/hmg/3.1.125;
Imbeaud S., Carre-Eusebe D., Rey R., Belville C., Josso N.,
Picard J.-Y.;
"Molecular genetics of the persistent Mullerian duct syndrome: a study
of 19 families.";
Hum. Mol. Genet. 3:125-131(1994).
[6]
VARIANTS PMDS1 GLN-506 AND TYR-525.
PubMed=8872466; DOI=10.1093/hmg/5.9.1269;
Imbeaud S., Belville C., Messika-Zeitoun L., Rey R., di Clemente N.,
Josso N., Picard J.-Y.;
"A 27 base-pair deletion of the anti-Muellerian type II receptor gene
is the most common cause of the persistent Muellerian duct syndrome.";
Hum. Mol. Genet. 5:1269-1277(1996).
-!- FUNCTION: This glycoprotein, produced by the Sertoli cells of the
testis, causes regression of the Muellerian duct. It is also able
to inhibit the growth of tumors derived from tissues of Muellerian
duct origin.
-!- SUBUNIT: Homodimer; disulfide-linked.
-!- SUBCELLULAR LOCATION: Secreted.
-!- DISEASE: Persistent Muellerian duct syndrome 1 (PMDS1)
[MIM:261550]: A form of male pseudohermaphroditism characterized
by a failure of Muellerian duct regression in otherwise normal
males. {ECO:0000269|PubMed:8162013, ECO:0000269|PubMed:8872466}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: Although it does not compete with EGF for receptor
binding sites, MIS can inhibit the autophosphorylation of the EGF
receptor in vitro.
-!- SIMILARITY: Belongs to the TGF-beta family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Wikipedia; Note=Anti-Mullerian hormone entry;
URL="https://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; K03474; AAA98805.1; -; Genomic_DNA.
EMBL; AC005263; AAC25614.1; -; Genomic_DNA.
EMBL; BC049194; AAH49194.1; -; mRNA.
CCDS; CCDS12085.1; -.
PIR; A01397; WFHUM.
RefSeq; NP_000470.2; NM_000479.4.
UniGene; Hs.112432; -.
ProteinModelPortal; P03971; -.
BioGrid; 106765; 4.
IntAct; P03971; 4.
STRING; 9606.ENSP00000221496; -.
iPTMnet; P03971; -.
PhosphoSitePlus; P03971; -.
BioMuta; AMH; -.
DMDM; 313104218; -.
MaxQB; P03971; -.
PaxDb; P03971; -.
PeptideAtlas; P03971; -.
PRIDE; P03971; -.
DNASU; 268; -.
Ensembl; ENST00000221496; ENSP00000221496; ENSG00000104899.
GeneID; 268; -.
KEGG; hsa:268; -.
UCSC; uc002lvh.3; human.
CTD; 268; -.
DisGeNET; 268; -.
EuPathDB; HostDB:ENSG00000104899.5; -.
GeneCards; AMH; -.
HGNC; HGNC:464; AMH.
MalaCards; AMH; -.
MIM; 261550; phenotype.
MIM; 600957; gene.
neXtProt; NX_P03971; -.
OpenTargets; ENSG00000104899; -.
Orphanet; 2856; Persistent Mullerian duct syndrome.
PharmGKB; PA24769; -.
eggNOG; KOG3900; Eukaryota.
eggNOG; ENOG410XT8Z; LUCA.
GeneTree; ENSGT00390000006337; -.
HOGENOM; HOG000113593; -.
HOVERGEN; HBG006358; -.
InParanoid; P03971; -.
KO; K04665; -.
OMA; QRARWGP; -.
OrthoDB; EOG091G09TC; -.
PhylomeDB; P03971; -.
TreeFam; TF335595; -.
Reactome; R-HSA-201451; Signaling by BMP.
SignaLink; P03971; -.
SIGNOR; P03971; -.
GenomeRNAi; 268; -.
PRO; PR:P03971; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000104899; -.
CleanEx; HS_AMH; -.
CleanEx; HS_MIF; -.
Genevisible; P03971; HS.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005615; C:extracellular space; IBA:GO_Central.
GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
GO; GO:0005179; F:hormone activity; TAS:ProtInc.
GO; GO:0005102; F:receptor binding; IPI:UniProtKB.
GO; GO:0005160; F:transforming growth factor beta receptor binding; IEA:Ensembl.
GO; GO:0007568; P:aging; IEA:Ensembl.
GO; GO:0030509; P:BMP signaling pathway; TAS:Reactome.
GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
GO; GO:0007506; P:gonadal mesoderm development; IEA:UniProtKB-KW.
GO; GO:0001880; P:Mullerian duct regression; IDA:UniProtKB.
GO; GO:2000355; P:negative regulation of ovarian follicle development; IEA:Ensembl.
GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
GO; GO:0051092; P:positive regulation of NF-kappaB transcription factor activity; IEA:Ensembl.
GO; GO:0001546; P:preantral ovarian follicle growth; IEA:Ensembl.
GO; GO:0042493; P:response to drug; IEA:Ensembl.
GO; GO:0014070; P:response to organic cyclic compound; IEA:Ensembl.
GO; GO:0007530; P:sex determination; TAS:ProtInc.
GO; GO:0007548; P:sex differentiation; TAS:UniProtKB.
GO; GO:0001655; P:urogenital system development; IBA:GO_Central.
Gene3D; 2.10.90.10; -; 1.
InterPro; IPR006799; AMH_N.
InterPro; IPR029034; Cystine-knot_cytokine.
InterPro; IPR021203; Muellerian-inhibiting_factor.
InterPro; IPR001839; TGF-b_C.
InterPro; IPR017948; TGFb_CS.
PANTHER; PTHR15009; PTHR15009; 1.
Pfam; PF04709; AMH_N; 1.
Pfam; PF00019; TGF_beta; 1.
PIRSF; PIRSF037270; Muellerian-inhibiting_factor; 1.
SMART; SM00204; TGFB; 1.
SUPFAM; SSF57501; SSF57501; 1.
PROSITE; PS00250; TGF_BETA_1; 1.
PROSITE; PS51362; TGF_BETA_2; 1.
1: Evidence at protein level;
Complete proteome; Differentiation; Disease mutation; Disulfide bond;
Glycoprotein; Gonadal differentiation; Growth factor; Polymorphism;
Pseudohermaphroditism; Reference proteome; Secreted; Signal.
SIGNAL 1 18 {ECO:0000255}.
PROPEP 19 25 {ECO:0000255}.
/FTId=PRO_0000033746.
CHAIN 26 560 Muellerian-inhibiting factor.
/FTId=PRO_0000033747.
CARBOHYD 64 64 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 329 329 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 462 526 {ECO:0000250}.
DISULFID 488 557 {ECO:0000250}.
DISULFID 492 559 {ECO:0000250}.
DISULFID 525 525 Interchain. {ECO:0000250}.
VARIANT 12 12 V -> G (in PMDS1; dbSNP:rs149082963).
{ECO:0000269|PubMed:8162013}.
/FTId=VAR_007483.
VARIANT 49 49 S -> I (in dbSNP:rs10407022).
{ECO:0000269|PubMed:3754790}.
/FTId=VAR_007484.
VARIANT 70 70 L -> P (in PMDS1).
{ECO:0000269|PubMed:8162013}.
/FTId=VAR_007485.
VARIANT 101 101 G -> V (in PMDS1).
{ECO:0000269|PubMed:8162013}.
/FTId=VAR_007486.
VARIANT 123 123 R -> W (in PMDS1; dbSNP:rs569914235).
{ECO:0000269|PubMed:8162013}.
/FTId=VAR_007487.
VARIANT 167 167 Y -> C (in PMDS1; dbSNP:rs371874189).
{ECO:0000269|PubMed:8162013}.
/FTId=VAR_007488.
VARIANT 185 185 Q -> E (in dbSNP:rs200523942).
/FTId=VAR_007489.
VARIANT 194 194 R -> C (in PMDS1; dbSNP:rs777003373).
{ECO:0000269|PubMed:8162013}.
/FTId=VAR_007490.
VARIANT 325 325 Q -> R (in dbSNP:rs140765565).
{ECO:0000269|PubMed:1483695}.
/FTId=VAR_007491.
VARIANT 477 477 V -> A (in PMDS1).
{ECO:0000269|PubMed:8162013}.
/FTId=VAR_007492.
VARIANT 506 506 H -> Q (in PMDS1; dbSNP:rs138571039).
{ECO:0000269|PubMed:8872466}.
/FTId=VAR_031027.
VARIANT 515 515 V -> A (in dbSNP:rs10417628).
{ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:3754790}.
/FTId=VAR_065100.
VARIANT 525 525 C -> Y (in PMDS1).
{ECO:0000269|PubMed:8872466}.
/FTId=VAR_031028.
SEQUENCE 560 AA; 59195 MW; D05DCEE4FEDF94C2 CRC64;
MRDLPLTSLA LVLSALGALL GTEALRAEEP AVGTSGLIFR EDLDWPPGSP QEPLCLVALG
GDSNGSSSPL RVVGALSAYE QAFLGAVQRA RWGPRDLATF GVCNTGDRQA ALPSLRRLGA
WLRDPGGQRL VVLHLEEVTW EPTPSLRFQE PPPGGAGPPE LALLVLYPGP GPEVTVTRAG
LPGAQSLCPS RDTRYLVLAV DRPAGAWRGS GLALTLQPRG EDSRLSTARL QALLFGDDHR
CFTRMTPALL LLPRSEPAPL PAHGQLDTVP FPPPRPSAEL EESPPSADPF LETLTRLVRA
LRVPPARASA PRLALDPDAL AGFPQGLVNL SDPAALERLL DGEEPLLLLL RPTAATTGDP
APLHDPTSAP WATALARRVA AELQAAAAEL RSLPGLPPAT APLLARLLAL CPGGPGGLGD
PLRALLLLKA LQGLRVEWRG RDPRGPGRAQ RSAGATAADG PCALRELSVD LRAERSVLIP
ETYQANNCQG VCGWPQSDRN PRYGNHVVLL LKMQVRGAAL ARPPCCVPTA YAGKLLISLS
EERISAHHVP NMVATECGCR


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