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P03971

- MIS_HUMAN

UniProt

P03971 - MIS_HUMAN

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Protein

Muellerian-inhibiting factor

Gene

AMH

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP03971.
CleanExiHS_AMH.
HS_MIF.
ExpressionAtlasiP03971. baseline and differential.
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.
GeneTreeiENSGT00390000006337.
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

        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)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:
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_000479.3.
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000006337.
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

Bgeei P03971.
CleanExi HS_AMH.
HS_MIF.
ExpressionAtlasi P03971. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 153 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