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Protein

Muellerian-inhibiting factor

Gene

AMH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

Miscellaneous

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

GO - Molecular functioni

  • growth factor activity Source: UniProtKB-KW
  • hormone activity Source: ProtInc
  • signaling receptor binding Source: UniProtKB
  • transforming growth factor beta receptor binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionGrowth factor
Biological processDifferentiation, Gonadal differentiation

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
SignaLinkiP03971
SIGNORiP03971

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000104899.5
HGNCiHGNC:464 AMH
MIMi600957 gene
neXtProtiNX_P03971

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Persistent Muellerian duct syndrome 1 (PMDS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
See also OMIM:261550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00748312V → G in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs149082963EnsemblClinVar.1
Natural variantiVAR_00748570L → P in PMDS1. 1 Publication1
Natural variantiVAR_007486101G → V in PMDS1. 1 Publication1
Natural variantiVAR_007487123R → W in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs569914235Ensembl.1
Natural variantiVAR_007488167Y → C in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs371874189Ensembl.1
Natural variantiVAR_007490194R → C in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs777003373Ensembl.1
Natural variantiVAR_007492477V → A in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs1358787117Ensembl.1
Natural variantiVAR_031027506H → Q in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs138571039Ensembl.1
Natural variantiVAR_031028525C → Y in PMDS1. 1 Publication1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNETi268
MalaCardsiAMH
MIMi261550 phenotype
OpenTargetsiENSG00000104899
Orphaneti2856 Persistent Mullerian duct syndrome
PharmGKBiPA24769

Polymorphism and mutation databases

BioMutaiAMH
DMDMi313104218

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
PropeptideiPRO_000003374619 – 25Sequence analysis7
ChainiPRO_000003374726 – 560Muellerian-inhibiting factorAdd BLAST535

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi64N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi329N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi462 ↔ 526By similarity
Disulfide bondi488 ↔ 557By similarity
Disulfide bondi492 ↔ 559By similarity
Disulfide bondi525InterchainBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP03971
PaxDbiP03971
PeptideAtlasiP03971
PRIDEiP03971
ProteomicsDBi51624

PTM databases

iPTMnetiP03971
PhosphoSitePlusiP03971

Expressioni

Gene expression databases

BgeeiENSG00000104899 Expressed in 89 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_AMH
HS_MIF
GenevisibleiP03971 HS

Organism-specific databases

HPAiHPA066973

Interactioni

Subunit structurei

Homodimer; disulfide-linked.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106765, 4 interactors
IntActiP03971, 4 interactors
STRINGi9606.ENSP00000221496

Structurei

3D structure databases

ProteinModelPortaliP03971
SMRiP03971
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00390000006337
HOGENOMiHOG000113593
HOVERGENiHBG006358
InParanoidiP03971
KOiK04665
OMAiDPAPLHD
OrthoDBiEOG091G09TC
PhylomeDBiP03971
TreeFamiTF335595

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR006799 AMH_N
IPR029034 Cystine-knot_cytokine
IPR021203 Muellerian-inhibiting_factor
IPR001839 TGF-b_C
IPR017948 TGFb_CS
PANTHERiPTHR15009 PTHR15009, 1 hit
PfamiView protein in Pfam
PF04709 AMH_N, 1 hit
PF00019 TGF_beta, 1 hit
PIRSFiPIRSF037270 Muellerian-inhibiting_factor, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

Sequencei

Sequence statusi: Complete.

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

P03971-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRDLPLTSLA LVLSALGALL GTEALRAEEP AVGTSGLIFR EDLDWPPGSP
60 70 80 90 100
QEPLCLVALG GDSNGSSSPL RVVGALSAYE QAFLGAVQRA RWGPRDLATF
110 120 130 140 150
GVCNTGDRQA ALPSLRRLGA WLRDPGGQRL VVLHLEEVTW EPTPSLRFQE
160 170 180 190 200
PPPGGAGPPE LALLVLYPGP GPEVTVTRAG LPGAQSLCPS RDTRYLVLAV
210 220 230 240 250
DRPAGAWRGS GLALTLQPRG EDSRLSTARL QALLFGDDHR CFTRMTPALL
260 270 280 290 300
LLPRSEPAPL PAHGQLDTVP FPPPRPSAEL EESPPSADPF LETLTRLVRA
310 320 330 340 350
LRVPPARASA PRLALDPDAL AGFPQGLVNL SDPAALERLL DGEEPLLLLL
360 370 380 390 400
RPTAATTGDP APLHDPTSAP WATALARRVA AELQAAAAEL RSLPGLPPAT
410 420 430 440 450
APLLARLLAL CPGGPGGLGD PLRALLLLKA LQGLRVEWRG RDPRGPGRAQ
460 470 480 490 500
RSAGATAADG PCALRELSVD LRAERSVLIP ETYQANNCQG VCGWPQSDRN
510 520 530 540 550
PRYGNHVVLL LKMQVRGAAL ARPPCCVPTA YAGKLLISLS EERISAHHVP
560
NMVATECGCR
Length:560
Mass (Da):59,195
Last modified:November 30, 2010 - v3
Checksum:iD05DCEE4FEDF94C2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00748312V → G in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs149082963EnsemblClinVar.1
Natural variantiVAR_00748449S → I1 PublicationCorresponds to variant dbSNP:rs10407022EnsemblClinVar.1
Natural variantiVAR_00748570L → P in PMDS1. 1 Publication1
Natural variantiVAR_007486101G → V in PMDS1. 1 Publication1
Natural variantiVAR_007487123R → W in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs569914235Ensembl.1
Natural variantiVAR_007488167Y → C in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs371874189Ensembl.1
Natural variantiVAR_007489185Q → E. Corresponds to variant dbSNP:rs200523942Ensembl.1
Natural variantiVAR_007490194R → C in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs777003373Ensembl.1
Natural variantiVAR_007491325Q → R1 PublicationCorresponds to variant dbSNP:rs140765565EnsemblClinVar.1
Natural variantiVAR_007492477V → A in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs1358787117Ensembl.1
Natural variantiVAR_031027506H → Q in PMDS1. 1 PublicationCorresponds to variant dbSNP:rs138571039Ensembl.1
Natural variantiVAR_065100515V → A2 PublicationsCorresponds to variant dbSNP:rs10417628Ensembl.1
Natural variantiVAR_031028525C → Y in PMDS1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_000479.4
UniGeneiHs.112432

Genome annotation databases

EnsembliENST00000221496; ENSP00000221496; ENSG00000104899
GeneIDi268
KEGGihsa:268
UCSCiuc002lvh.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Anti-Mullerian hormone entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_000479.4
UniGeneiHs.112432

3D structure databases

ProteinModelPortaliP03971
SMRiP03971
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106765, 4 interactors
IntActiP03971, 4 interactors
STRINGi9606.ENSP00000221496

PTM databases

iPTMnetiP03971
PhosphoSitePlusiP03971

Polymorphism and mutation databases

BioMutaiAMH
DMDMi313104218

Proteomic databases

MaxQBiP03971
PaxDbiP03971
PeptideAtlasiP03971
PRIDEiP03971
ProteomicsDBi51624

Protocols and materials databases

DNASUi268
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221496; ENSP00000221496; ENSG00000104899
GeneIDi268
KEGGihsa:268
UCSCiuc002lvh.3 human

Organism-specific databases

CTDi268
DisGeNETi268
EuPathDBiHostDB:ENSG00000104899.5
GeneCardsiAMH
HGNCiHGNC:464 AMH
HPAiHPA066973
MalaCardsiAMH
MIMi261550 phenotype
600957 gene
neXtProtiNX_P03971
OpenTargetsiENSG00000104899
Orphaneti2856 Persistent Mullerian duct syndrome
PharmGKBiPA24769
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00390000006337
HOGENOMiHOG000113593
HOVERGENiHBG006358
InParanoidiP03971
KOiK04665
OMAiDPAPLHD
OrthoDBiEOG091G09TC
PhylomeDBiP03971
TreeFamiTF335595

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
SignaLinkiP03971
SIGNORiP03971

Miscellaneous databases

GenomeRNAii268
PROiPR:P03971
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104899 Expressed in 89 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_AMH
HS_MIF
GenevisibleiP03971 HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR006799 AMH_N
IPR029034 Cystine-knot_cytokine
IPR021203 Muellerian-inhibiting_factor
IPR001839 TGF-b_C
IPR017948 TGFb_CS
PANTHERiPTHR15009 PTHR15009, 1 hit
PfamiView protein in Pfam
PF04709 AMH_N, 1 hit
PF00019 TGF_beta, 1 hit
PIRSFiPIRSF037270 Muellerian-inhibiting_factor, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMIS_HUMAN
AccessioniPrimary (citable) accession number: P03971
Secondary accession number(s): O75246, Q6GTN3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: November 30, 2010
Last modified: November 7, 2018
This is version 182 of the entry and version 3 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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