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P03971

- MIS_HUMAN

UniProt

P03971 - MIS_HUMAN

Protein

Muellerian-inhibiting factor

Gene

AMH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 3 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. hormone activity Source: ProtInc
    2. receptor binding Source: UniProtKB

    GO - Biological processi

    1. aging Source: Ensembl
    2. cell-cell signaling Source: ProtInc
    3. gonadal mesoderm development Source: UniProtKB-KW
    4. Mullerian duct regression Source: UniProtKB
    5. positive regulation of gene expression Source: UniProtKB
    6. positive regulation of NF-kappaB transcription factor activity Source: Ensembl
    7. preantral ovarian follicle growth Source: Ensembl
    8. response to drug Source: Ensembl
    9. response to organic cyclic compound Source: Ensembl
    10. sex determination Source: ProtInc
    11. sex differentiation Source: UniProtKB
    12. urogenital system development Source: Ensembl

    Keywords - Molecular functioni

    Growth factor

    Keywords - Biological processi

    Differentiation, Gonadal differentiation

    Enzyme and pathway databases

    SignaLinkiP03971.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Muellerian-inhibiting factor
    Alternative name(s):
    Anti-Muellerian hormone
    Short name:
    AMH
    Muellerian-inhibiting substance
    Short name:
    MIS
    Gene namesi
    Name:AMH
    Synonyms:MIF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:464. AMH.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. extracellular region Source: UniProtKB
    3. extracellular space Source: ProtInc

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121V → G in PMDS1. 1 Publication
    Corresponds to variant rs149082963 [ dbSNP | Ensembl ].
    VAR_007483
    Natural varianti70 – 701L → P in PMDS1. 1 Publication
    VAR_007485
    Natural varianti101 – 1011G → V in PMDS1. 1 Publication
    VAR_007486
    Natural varianti123 – 1231R → W in PMDS1. 1 Publication
    VAR_007487
    Natural varianti167 – 1671Y → C in PMDS1. 1 Publication
    VAR_007488
    Natural varianti194 – 1941R → C in PMDS1. 1 Publication
    VAR_007490
    Natural varianti477 – 4771V → A in PMDS1. 1 Publication
    VAR_007492
    Natural varianti506 – 5061H → Q in PMDS1. 1 Publication
    VAR_031027
    Natural varianti525 – 5251C → Y in PMDS1. 1 Publication
    VAR_031028

    Keywords - Diseasei

    Disease mutation, Pseudohermaphroditism

    Organism-specific databases

    MIMi261550. phenotype.
    Orphaneti2856. Persistent Mullerian duct syndrome.
    PharmGKBiPA24769.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Propeptidei19 – 257Sequence AnalysisPRO_0000033746
    Chaini26 – 560535Muellerian-inhibiting factorPRO_0000033747Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi64 – 641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi329 – 3291N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi462 ↔ 526By similarity
    Disulfide bondi488 ↔ 557By similarity
    Disulfide bondi492 ↔ 559By similarity
    Disulfide bondi525 – 525InterchainBy similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP03971.
    PRIDEiP03971.

    PTM databases

    PhosphoSiteiP03971.

    Expressioni

    Gene expression databases

    ArrayExpressiP03971.
    BgeeiP03971.
    CleanExiHS_AMH.
    HS_MIF.
    GenevestigatoriP03971.

    Organism-specific databases

    HPAiCAB031933.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked.

    Protein-protein interaction databases

    BioGridi106765. 4 interactions.
    IntActiP03971. 3 interactions.
    STRINGi9606.ENSP00000221496.

    Structurei

    3D structure databases

    ProteinModelPortaliP03971.
    SMRiP03971. Positions 460-560.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TGF-beta family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG290074.
    HOGENOMiHOG000113593.
    HOVERGENiHBG006358.
    InParanoidiP03971.
    KOiK04665.
    OMAiQRARWGP.
    OrthoDBiEOG7C8GHS.
    PhylomeDBiP03971.
    TreeFamiTF335595.

    Family and domain databases

    Gene3Di2.10.90.10. 1 hit.
    InterProiIPR006799. AMH_N.
    IPR029034. Cystine-knot_cytokine.
    IPR021203. Muellerian-inhibiting_factor.
    IPR001839. TGF-b_C.
    IPR017948. TGFb_CS.
    [Graphical view]
    PANTHERiPTHR15009. PTHR15009. 1 hit.
    PfamiPF04709. AMH_N. 1 hit.
    PF00019. TGF_beta. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037270. Muellerian-inhibiting_factor. 1 hit.
    SMARTiSM00204. TGFB. 1 hit.
    [Graphical view]
    SUPFAMiSSF57501. SSF57501. 1 hit.
    PROSITEiPS00250. TGF_BETA_1. 1 hit.
    PS51362. TGF_BETA_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P03971-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRDLPLTSLA LVLSALGALL GTEALRAEEP AVGTSGLIFR EDLDWPPGSP    50
    QEPLCLVALG GDSNGSSSPL RVVGALSAYE QAFLGAVQRA RWGPRDLATF 100
    GVCNTGDRQA ALPSLRRLGA WLRDPGGQRL VVLHLEEVTW EPTPSLRFQE 150
    PPPGGAGPPE LALLVLYPGP GPEVTVTRAG LPGAQSLCPS RDTRYLVLAV 200
    DRPAGAWRGS GLALTLQPRG EDSRLSTARL QALLFGDDHR CFTRMTPALL 250
    LLPRSEPAPL PAHGQLDTVP FPPPRPSAEL EESPPSADPF LETLTRLVRA 300
    LRVPPARASA PRLALDPDAL AGFPQGLVNL SDPAALERLL DGEEPLLLLL 350
    RPTAATTGDP APLHDPTSAP WATALARRVA AELQAAAAEL RSLPGLPPAT 400
    APLLARLLAL CPGGPGGLGD PLRALLLLKA LQGLRVEWRG RDPRGPGRAQ 450
    RSAGATAADG PCALRELSVD LRAERSVLIP ETYQANNCQG VCGWPQSDRN 500
    PRYGNHVVLL LKMQVRGAAL ARPPCCVPTA YAGKLLISLS EERISAHHVP 550
    NMVATECGCR 560
    Length:560
    Mass (Da):59,195
    Last modified:November 30, 2010 - v3
    Checksum:iD05DCEE4FEDF94C2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121V → G in PMDS1. 1 Publication
    Corresponds to variant rs149082963 [ dbSNP | Ensembl ].
    VAR_007483
    Natural varianti49 – 491S → I.1 Publication
    Corresponds to variant rs10407022 [ dbSNP | Ensembl ].
    VAR_007484
    Natural varianti70 – 701L → P in PMDS1. 1 Publication
    VAR_007485
    Natural varianti101 – 1011G → V in PMDS1. 1 Publication
    VAR_007486
    Natural varianti123 – 1231R → W in PMDS1. 1 Publication
    VAR_007487
    Natural varianti167 – 1671Y → C in PMDS1. 1 Publication
    VAR_007488
    Natural varianti185 – 1851Q → E.
    VAR_007489
    Natural varianti194 – 1941R → C in PMDS1. 1 Publication
    VAR_007490
    Natural varianti325 – 3251Q → R.1 Publication
    Corresponds to variant rs140765565 [ dbSNP | Ensembl ].
    VAR_007491
    Natural varianti477 – 4771V → A in PMDS1. 1 Publication
    VAR_007492
    Natural varianti506 – 5061H → Q in PMDS1. 1 Publication
    VAR_031027
    Natural varianti515 – 5151V → A.2 Publications
    Corresponds to variant rs10417628 [ dbSNP | Ensembl ].
    VAR_065100
    Natural varianti525 – 5251C → Y in PMDS1. 1 Publication
    VAR_031028

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    K03474 Genomic DNA. Translation: AAA98805.1.
    AC005263 Genomic DNA. Translation: AAC25614.1.
    BC049194 mRNA. Translation: AAH49194.1.
    CCDSiCCDS12085.1.
    PIRiA01397. WFHUM.
    RefSeqiNP_000470.2. NM_000479.3.
    UniGeneiHs.112432.

    Genome annotation databases

    EnsembliENST00000221496; ENSP00000221496; ENSG00000104899.
    GeneIDi268.
    KEGGihsa:268.
    UCSCiuc002lvh.2. human.

    Polymorphism databases

    DMDMi313104218.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Anti-Mullerian hormone entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    K03474 Genomic DNA. Translation: AAA98805.1 .
    AC005263 Genomic DNA. Translation: AAC25614.1 .
    BC049194 mRNA. Translation: AAH49194.1 .
    CCDSi CCDS12085.1.
    PIRi A01397. WFHUM.
    RefSeqi NP_000470.2. NM_000479.3.
    UniGenei Hs.112432.

    3D structure databases

    ProteinModelPortali P03971.
    SMRi P03971. Positions 460-560.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106765. 4 interactions.
    IntActi P03971. 3 interactions.
    STRINGi 9606.ENSP00000221496.

    PTM databases

    PhosphoSitei P03971.

    Polymorphism databases

    DMDMi 313104218.

    Proteomic databases

    PaxDbi P03971.
    PRIDEi P03971.

    Protocols and materials databases

    DNASUi 268.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000221496 ; ENSP00000221496 ; ENSG00000104899 .
    GeneIDi 268.
    KEGGi hsa:268.
    UCSCi uc002lvh.2. human.

    Organism-specific databases

    CTDi 268.
    GeneCardsi GC19P002251.
    HGNCi HGNC:464. AMH.
    HPAi CAB031933.
    MIMi 261550. phenotype.
    600957. gene.
    neXtProti NX_P03971.
    Orphaneti 2856. Persistent Mullerian duct syndrome.
    PharmGKBi PA24769.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG290074.
    HOGENOMi HOG000113593.
    HOVERGENi HBG006358.
    InParanoidi P03971.
    KOi K04665.
    OMAi QRARWGP.
    OrthoDBi EOG7C8GHS.
    PhylomeDBi P03971.
    TreeFami TF335595.

    Enzyme and pathway databases

    SignaLinki P03971.

    Miscellaneous databases

    GenomeRNAii 268.
    NextBioi 1053.
    PROi P03971.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P03971.
    Bgeei P03971.
    CleanExi HS_AMH.
    HS_MIF.
    Genevestigatori P03971.

    Family and domain databases

    Gene3Di 2.10.90.10. 1 hit.
    InterProi IPR006799. AMH_N.
    IPR029034. Cystine-knot_cytokine.
    IPR021203. Muellerian-inhibiting_factor.
    IPR001839. TGF-b_C.
    IPR017948. TGFb_CS.
    [Graphical view ]
    PANTHERi PTHR15009. PTHR15009. 1 hit.
    Pfami PF04709. AMH_N. 1 hit.
    PF00019. TGF_beta. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037270. Muellerian-inhibiting_factor. 1 hit.
    SMARTi SM00204. TGFB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57501. SSF57501. 1 hit.
    PROSITEi PS00250. TGF_BETA_1. 1 hit.
    PS51362. TGF_BETA_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-49 AND ALA-515.
    2. "The DNA sequence and biology of human chromosome 19."
      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.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-515.
      Tissue: Brain.
    4. "Variants of the anti-Mullerian hormone gene in a compound heterozygote with the persistent Mullerian duct syndrome and his family."
      Carre-Eusebe D., Imbeaud S., Harbison M., New M.I., Josso N., Picard J.-Y.
      Hum. Genet. 90:389-394(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-325.
    5. "Molecular genetics of the persistent Mullerian duct syndrome: a study of 19 families."
      Imbeaud S., Carre-Eusebe D., Rey R., Belville C., Josso N., Picard J.-Y.
      Hum. Mol. Genet. 3:125-131(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PMDS1 GLY-12; PRO-70; VAL-101; TRP-123; CYS-167; CYS-194 AND ALA-477.
    6. "A 27 base-pair deletion of the anti-Muellerian type II receptor gene is the most common cause of the persistent Muellerian duct syndrome."
      Imbeaud S., Belville C., Messika-Zeitoun L., Rey R., di Clemente N., Josso N., Picard J.-Y.
      Hum. Mol. Genet. 5:1269-1277(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PMDS1 GLN-506 AND TYR-525.

    Entry informationi

    Entry nameiMIS_HUMAN
    AccessioniPrimary (citable) accession number: P03971
    Secondary accession number(s): O75246, Q6GTN3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 1986
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 152 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Although it does not compete with EGF for receptor binding sites, MIS can inhibit the autophosphorylation of the EGF receptor in vitro.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3