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Protein

Muellerian-inhibiting factor

Gene

AMH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

GO - Molecular functioni

  • hormone activity Source: ProtInc
  • receptor binding Source: UniProtKB

GO - Biological processi

  • aging Source: Ensembl
  • cell-cell signaling Source: ProtInc
  • gonadal mesoderm development Source: UniProtKB-KW
  • Mullerian duct regression Source: UniProtKB
  • negative regulation of ovarian follicle development Source: Ensembl
  • positive regulation of gene expression Source: UniProtKB
  • positive regulation of NF-kappaB transcription factor activity Source: Ensembl
  • preantral ovarian follicle growth Source: Ensembl
  • response to drug Source: Ensembl
  • response to organic cyclic compound Source: Ensembl
  • sex determination Source: ProtInc
  • sex differentiation Source: UniProtKB
  • urogenital system development Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Growth factor

Keywords - Biological processi

Differentiation, Gonadal differentiation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104899-MONOMER.
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

HGNCiHGNC:464. AMH.

Subcellular locationi

GO - Cellular componenti

  • extracellular region Source: UniProtKB
  • extracellular space Source: ProtInc
Complete GO annotation...

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 rs149082963dbSNPEnsembl.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 rs569914235dbSNPEnsembl.1
Natural variantiVAR_007488167Y → C in PMDS1. 1 PublicationCorresponds to variant rs371874189dbSNPEnsembl.1
Natural variantiVAR_007490194R → C in PMDS1. 1 PublicationCorresponds to variant rs777003373dbSNPEnsembl.1
Natural variantiVAR_007492477V → A in PMDS1. 1 Publication1
Natural variantiVAR_031027506H → Q in PMDS1. 1 PublicationCorresponds to variant rs138571039dbSNPEnsembl.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...)Sequence analysis1
Glycosylationi329N-linked (GlcNAc...)Sequence 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.

PTM databases

iPTMnetiP03971.
PhosphoSitePlusiP03971.

Expressioni

Gene expression databases

BgeeiENSG00000104899.
CleanExiHS_AMH.
HS_MIF.
GenevisibleiP03971. HS.

Organism-specific databases

HPAiCAB031933.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.

GO - Molecular functioni

  • hormone activity Source: ProtInc
  • receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106765. 4 interactors.
IntActiP03971. 3 interactors.
STRINGi9606.ENSP00000221496.

Structurei

3D structure databases

ProteinModelPortaliP03971.
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.
OMAiQRARWGP.
OrthoDBiEOG091G09TC.
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

        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 rs149082963dbSNPEnsembl.1
Natural variantiVAR_00748449S → I.1 PublicationCorresponds to variant rs10407022dbSNPEnsembl.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 rs569914235dbSNPEnsembl.1
Natural variantiVAR_007488167Y → C in PMDS1. 1 PublicationCorresponds to variant rs371874189dbSNPEnsembl.1
Natural variantiVAR_007489185Q → E.Corresponds to variant rs200523942dbSNPEnsembl.1
Natural variantiVAR_007490194R → C in PMDS1. 1 PublicationCorresponds to variant rs777003373dbSNPEnsembl.1
Natural variantiVAR_007491325Q → R.1 PublicationCorresponds to variant rs140765565dbSNPEnsembl.1
Natural variantiVAR_007492477V → A in PMDS1. 1 Publication1
Natural variantiVAR_031027506H → Q in PMDS1. 1 PublicationCorresponds to variant rs138571039dbSNPEnsembl.1
Natural variantiVAR_065100515V → A.2 PublicationsCorresponds to variant rs10417628dbSNPEnsembl.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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106765. 4 interactors.
IntActiP03971. 3 interactors.
STRINGi9606.ENSP00000221496.

PTM databases

iPTMnetiP03971.
PhosphoSitePlusiP03971.

Polymorphism and mutation databases

BioMutaiAMH.
DMDMi313104218.

Proteomic databases

MaxQBiP03971.
PaxDbiP03971.
PeptideAtlasiP03971.
PRIDEiP03971.

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.
GeneCardsiAMH.
HGNCiHGNC:464. AMH.
HPAiCAB031933.
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.
OMAiQRARWGP.
OrthoDBiEOG091G09TC.
PhylomeDBiP03971.
TreeFamiTF335595.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104899-MONOMER.
SignaLinkiP03971.
SIGNORiP03971.

Miscellaneous databases

GenomeRNAii268.
PROiP03971.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104899.
CleanExiHS_AMH.
HS_MIF.
GenevisibleiP03971. HS.

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]
ProtoNetiSearch...

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: November 2, 2016
This is version 169 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.