Reviewed, UniProtKB/Swiss-Prot P03971 (MIS_HUMAN)

Names and origin

Protein names

Recommended name:
    Muellerian-inhibiting factor
Alternative name(s):
    MIS
    Anti-Muellerian hormone
      Short name=AMH
    Muellerian-inhibiting substance

Gene names

Name:	AMH
Synonyms:	MIF

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	560 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]. PMDS1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. Ref.4 Ref.5
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 process	Differentiation Gonadal differentiation
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Pseudohermaphroditism
Domain	Signal
Molecular function	Growth factor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	Mullerian duct regression Non-traceable author statement. Source: UniProtKB cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW cell-cell signaling Ref.1 Traceable author statement. Source: ProtInc gonadal mesoderm development Inferred from electronic annotation. Source: UniProtKB-KW sex determination Ref.1 Traceable author statement. Source: ProtInc
Cellular component	extracellular space Ref.1 Traceable author statement. Source: ProtInc
Molecular function	growth factor activity Inferred from electronic annotation. Source: UniProtKB-KW hormone activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 18	18	Potential
	Propeptide	19 – 25	7	Potential		PRO_0000033746
	Chain	26 – 560	535	Muellerian-inhibiting factor		PRO_0000033747
Amino acid modifications
	Glycosylation	64	1	N-linked (GlcNAc...) Potential
	Glycosylation	329	1	N-linked (GlcNAc...) Potential
	Disulfide bond	462 ↔ 526		By similarity
	Disulfide bond	488 ↔ 557		By similarity
	Disulfide bond	492 ↔ 559		By similarity
	Disulfide bond	525		Interchain By similarity
Natural variations
	Natural variant	12	1	V → G in PMDS1. Ref.4		VAR_007483
	Natural variant	49	1	I → S: dbSNP rs10407022.		VAR_007484
	Natural variant	70	1	L → P in PMDS1. Ref.4		VAR_007485
	Natural variant	101	1	G → V in PMDS1. Ref.4		VAR_007486
	Natural variant	123	1	R → W in PMDS1. Ref.4		VAR_007487
	Natural variant	167	1	Y → C in PMDS1. Ref.4		VAR_007488
	Natural variant	185	1	Q → E		VAR_007489
	Natural variant	194	1	R → C in PMDS1. Ref.4		VAR_007490
	Natural variant	325	1	Q → R		VAR_007491
	Natural variant	477	1	V → A in PMDS1. Ref.4		VAR_007492
	Natural variant	506	1	H → Q in PMDS1. Ref.5		VAR_031027
	Natural variant	525	1	C → Y in PMDS1. Ref.5		VAR_031028
Experimental info
	Sequence conflict	515	1	V → A in AAA98805. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P03971-1 [UniParc]. Last modified November 13, 2007. Version 2. Checksum: 1CAC2EE4FEDF94C6	FASTA	560	59,221
	10 20 30 40 50 60 MRDLPLTSLA LVLSALGALL GTEALRAEEP AVGTSGLIFR EDLDWPPGIP 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

References

	« Hide 'large scale' referencesShow '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: 3754790] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 1483695] [Abstract] Cited for: VARIANT ARG-325.
[4]	"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: 8162013] [Abstract] Cited for: VARIANTS PMDS1 GLY-12; PRO-70; VAL-101; TRP-123; CYS-167; CYS-194 AND ALA-477.
[5]	"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: 8872466] [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
EMBLGenBankDDBJ	K03474 Genomic DNA. Translation: AAA98805.1. AC005263 Genomic DNA. Translation: AAC25614.1.
IPI	IPI00008577.
PIR	WFHUM. A01397.
UniGene	Hs.112432
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P03971.
Proteomic databases
PRIDE	P03971.
Genome annotation databases
Ensembl	ENST00000221496; ENSP00000221496; ENSG00000104899; Homo sapiens. [Genome view]
Organism-specific databases
GeneCards	GC19P002200.
H-InvDB	HIX0027512.
HGNC	HGNC:464. AMH.
MIM	261550. phenotype. 600957. gene.
Orphanet	2856. Persistent Mullerian duct syndrome.
PharmGKB	PA24769.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P03971.
HOVERGEN	P03971.
Gene expression databases
ArrayExpress	P03971.
Bgee	P03971.
CleanEx	HS_AMH. HS_MIF.
Genevestigator	P03971.
GermOnline	ENSG00000104899. Homo sapiens.
Family and domain databases
InterPro	IPR006799. AMH_N. IPR001839. TGFb. IPR017948. TGFb_CS. [Graphical view]
Pfam	PF04709. AMH_N. 1 hit. PF00019. TGF_beta. 1 hit. [Graphical view]
SMART	SM00204. TGFB. 1 hit. [Graphical view]
PROSITE	PS00250. TGF_BETA_1. 1 hit. PS51362. TGF_BETA_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

MIS_HUMAN

Accession

Primary (citable) accession number: P03971
Secondary accession number(s): O75246

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 1986
Last sequence update:	November 13, 2007
Last modified:	November 24, 2009
This is version 107 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.