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P03971 (MIS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Muellerian-inhibiting factor
Alternative name(s):
Anti-Muellerian hormone
Short name=AMH
Muellerian-inhibiting substance
Short name=MIS
Gene names
Name:AMH
Synonyms:MIF
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length560 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

Homodimer; disulfide-linked.

Subcellular location

Secreted.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6

Miscellaneous

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

Sequence similarities

Belongs to the TGF-beta family.

Ontologies

Keywords
   Biological processDifferentiation
Gonadal differentiation
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Pseudohermaphroditism
   DomainSignal
   Molecular functionGrowth factor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processMullerian duct regression

Inferred from direct assay PubMed 14695376. Source: UniProtKB

aging

Inferred from electronic annotation. Source: Ensembl

cell-cell signaling

Traceable author statement Ref.1. Source: ProtInc

gonadal mesoderm development

Inferred from electronic annotation. Source: UniProtKB-KW

positive regulation of NF-kappaB transcription factor activity

Inferred from electronic annotation. Source: Ensembl

positive regulation of gene expression

Inferred from mutant phenotype PubMed 14695376. Source: UniProtKB

preantral ovarian follicle growth

Inferred from electronic annotation. Source: Ensembl

response to drug

Inferred from electronic annotation. Source: Ensembl

response to organic cyclic compound

Inferred from electronic annotation. Source: Ensembl

sex determination

Traceable author statement Ref.1. Source: ProtInc

sex differentiation

Traceable author statement PubMed 12834017. Source: UniProtKB

urogenital system development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: Ensembl

extracellular region

Non-traceable author statement PubMed 14750901. Source: UniProtKB

extracellular space

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functionhormone activity

Traceable author statement Ref.1. Source: ProtInc

receptor binding

Inferred from physical interaction PubMed 14750901. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Propeptide19 – 257 Potential
PRO_0000033746
Chain26 – 560535Muellerian-inhibiting factor
PRO_0000033747

Amino acid modifications

Glycosylation641N-linked (GlcNAc...) Potential
Glycosylation3291N-linked (GlcNAc...) Potential
Disulfide bond462 ↔ 526 By similarity
Disulfide bond488 ↔ 557 By similarity
Disulfide bond492 ↔ 559 By similarity
Disulfide bond525Interchain By similarity

Natural variations

Natural variant121V → G in PMDS1. Ref.5
Corresponds to variant rs149082963 [ dbSNP | Ensembl ].
VAR_007483
Natural variant491S → I. Ref.1
Corresponds to variant rs10407022 [ dbSNP | Ensembl ].
VAR_007484
Natural variant701L → P in PMDS1. Ref.5
VAR_007485
Natural variant1011G → V in PMDS1. Ref.5
VAR_007486
Natural variant1231R → W in PMDS1. Ref.5
VAR_007487
Natural variant1671Y → C in PMDS1. Ref.5
VAR_007488
Natural variant1851Q → E.
VAR_007489
Natural variant1941R → C in PMDS1. Ref.5
VAR_007490
Natural variant3251Q → R. Ref.4
Corresponds to variant rs140765565 [ dbSNP | Ensembl ].
VAR_007491
Natural variant4771V → A in PMDS1. Ref.5
VAR_007492
Natural variant5061H → Q in PMDS1. Ref.6
VAR_031027
Natural variant5151V → A. Ref.1 Ref.3
Corresponds to variant rs10417628 [ dbSNP | Ensembl ].
VAR_065100
Natural variant5251C → Y in PMDS1. Ref.6
VAR_031028

Sequences

Sequence LengthMass (Da)Tools
P03971 [UniParc].

Last modified November 30, 2010. Version 3.
Checksum: D05DCEE4FEDF94C2

FASTA56059,195
        10         20         30         40         50         60 
MRDLPLTSLA LVLSALGALL GTEALRAEEP AVGTSGLIFR EDLDWPPGSP QEPLCLVALG 

        70         80         90        100        110        120 
GDSNGSSSPL RVVGALSAYE QAFLGAVQRA RWGPRDLATF GVCNTGDRQA ALPSLRRLGA 

       130        140        150        160        170        180 
WLRDPGGQRL VVLHLEEVTW EPTPSLRFQE PPPGGAGPPE LALLVLYPGP GPEVTVTRAG 

       190        200        210        220        230        240 
LPGAQSLCPS RDTRYLVLAV DRPAGAWRGS GLALTLQPRG EDSRLSTARL QALLFGDDHR 

       250        260        270        280        290        300 
CFTRMTPALL LLPRSEPAPL PAHGQLDTVP FPPPRPSAEL EESPPSADPF LETLTRLVRA 

       310        320        330        340        350        360 
LRVPPARASA PRLALDPDAL AGFPQGLVNL SDPAALERLL DGEEPLLLLL RPTAATTGDP 

       370        380        390        400        410        420 
APLHDPTSAP WATALARRVA AELQAAAAEL RSLPGLPPAT APLLARLLAL CPGGPGGLGD 

       430        440        450        460        470        480 
PLRALLLLKA LQGLRVEWRG RDPRGPGRAQ RSAGATAADG PCALRELSVD LRAERSVLIP 

       490        500        510        520        530        540 
ETYQANNCQG VCGWPQSDRN PRYGNHVVLL LKMQVRGAAL ARPPCCVPTA YAGKLLISLS 

       550        560 
EERISAHHVP NMVATECGCR 

« Hide

References

« Hide 'large scale' references
[1]"Isolation of the bovine and human genes for Mullerian inhibiting substance and expression of the human gene in animal cells."
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.
Cell 45:685-698(1986) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Wikipedia

Anti-Mullerian hormone entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
K03474 Genomic DNA. Translation: AAA98805.1.
AC005263 Genomic DNA. Translation: AAC25614.1.
BC049194 mRNA. Translation: AAH49194.1.
CCDSCCDS12085.1.
PIRWFHUM. A01397.
RefSeqNP_000470.2. NM_000479.3.
UniGeneHs.112432.

3D structure databases

ProteinModelPortalP03971.
SMRP03971. Positions 460-560.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106765. 4 interactions.
IntActP03971. 3 interactions.
STRING9606.ENSP00000221496.

PTM databases

PhosphoSiteP03971.

Polymorphism databases

DMDM313104218.

Proteomic databases

PaxDbP03971.
PRIDEP03971.

Protocols and materials databases

DNASU268.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000221496; ENSP00000221496; ENSG00000104899.
GeneID268.
KEGGhsa:268.
UCSCuc002lvh.2. human.

Organism-specific databases

CTD268.
GeneCardsGC19P002251.
HGNCHGNC:464. AMH.
HPACAB031933.
MIM261550. phenotype.
600957. gene.
neXtProtNX_P03971.
Orphanet2856. Persistent Mullerian duct syndrome.
PharmGKBPA24769.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG290074.
HOGENOMHOG000113593.
HOVERGENHBG006358.
InParanoidP03971.
KOK04665.
OMAQRARWGP.
OrthoDBEOG7C8GHS.
PhylomeDBP03971.
TreeFamTF335595.

Enzyme and pathway databases

SignaLinkP03971.

Gene expression databases

ArrayExpressP03971.
BgeeP03971.
CleanExHS_AMH.
HS_MIF.
GenevestigatorP03971.

Family and domain databases

Gene3D2.10.90.10. 1 hit.
InterProIPR006799. AMH_N.
IPR029034. Cystine-knot_cytokine.
IPR021203. Muellerian-inhibiting_factor.
IPR001839. TGF-b_C.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERPTHR15009. PTHR15009. 1 hit.
PfamPF04709. AMH_N. 1 hit.
PF00019. TGF_beta. 1 hit.
[Graphical view]
PIRSFPIRSF037270. Muellerian-inhibiting_factor. 1 hit.
SMARTSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMSSF57501. SSF57501. 1 hit.
PROSITEPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi268.
NextBio1053.
PROP03971.
SOURCESearch...

Entry information

Entry nameMIS_HUMAN
AccessionPrimary (citable) accession number: P03971
Secondary accession number(s): O75246, Q6GTN3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 151 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM