Anti-Muellerian hormone type-2 receptor precursor

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Reviewed, UniProtKB/Swiss-Prot Q16671 (AMHR2_HUMAN)

Last modified July 22, 2008. Version 87. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Anti-Muellerian hormone type-2 receptor
    EC=2.7.11.30
Alternative name(s):
    Anti-Muellerian hormone type II receptor
      Short name(s)=AMH type II receptor
    MIS type II receptor
    MISRII
      Short name(s)=MRII

Gene names

Name:	AMHR2
Synonyms:	AMHR

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	573 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.
Catalytic activity	ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
Cofactor	Magnesium or manganese By similarity.
Subcellular location	Membrane; Single-pass type I membrane protein.
Involvement in disease	Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS-2) [MIM:261550]. PMDS-2 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
Sequence similarities	Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 protein kinase domain.

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Ontologies

Keywords
Cellular component	Membrane
Disease	Disease mutation Pseudohermaphroditism
Domain	Signal Transmembrane
Ligand	ATP-binding Magnesium Manganese Metal-binding Nucleotide-binding
Molecular function	Kinase Receptor Serine/threonine-protein kinase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	Mullerian duct regression Non-traceable author statement. Source: UniProtKB signal transduction Ref.1 Inferred from mutant phenotype. Source: UniProtKB
Molecular function	hormone binding Inferred from physical interaction. Source: UniProtKB receptor activity Ref.1 Inferred from mutant phenotype. Source: UniProtKB transmembrane receptor protein serine/threonine kinase signaling protein activity Traceable author statement. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Signal peptide

1 – 17

Potential

Chain

18 – 573

556

Anti-Muellerian hormone type-2 receptor

Regions

Topological domain

18 – 149

132

Extracellular Potential

Transmembrane

150 – 170

Potential

Topological domain

171 – 573

403

Cytoplasmic Potential

Domain

203 – 518

316

Protein kinase

Nucleotide binding

209 – 217

ATP By similarity

Sites

Active site

333

Proton acceptor By similarity

Binding site

230

ATP By similarity

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

119

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

R → C in PMDS-2.

Natural variant

142

G → V in PMDS-2.

Natural variant

282

H → Q in PMDS-2.

Natural variant

406

R → Q in PMDS-2.

Natural variant

426

D → G in PMDS-2.

Natural variant

444 – 452

Missing in PMDS-2.

Natural variant

458

V → A in PMDS-2.

Natural variant

491

D → H in PMDS-2.

Natural variant

504

R → C in PMDS-2.

Experimental info

Sequence conflict

161

L → V in CAA62593. Ref.2

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Sequences

Sequence

Length

Mass (Da)

Tools

Q16671-1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 1347C10C2942FDBA
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FASTA

573

62,750

        10         20         30         40         50         60 
MLGSLGLWAL LPTAVEAPPN RRTCVFFEAP GVRGSTKTLG ELLDTGTELP RAIRCLYSRC 

        70         80         90        100        110        120 
CFGIWNLTQD RAQVEMQGCR DSDEPGCESL HCDPSPRAHP SPGSTLFTCS CGTDFCNANY 

       130        140        150        160        170        180 
SHLPPPGSPG TPGSQGPQAA PGESIWMALV LLGLFLLLLL LLGSIILALL QRKNYRVRGE 

       190        200        210        220        230        240 
PVPEPRPDSG RDWSVELQEL PELCFSQVIR EGGHAVVWAG QLQGKLVAIK AFPPRSVAQF 

       250        260        270        280        290        300 
QAERALYELP GLQHDHIVRF ITASRGGPGR LLSGPLLVLE LHPKGSLCHY LTQYTSDWGS 

       310        320        330        340        350        360 
SLRMALSLAQ GLAFLHEERW QNGQYKPGIA HRDLSSQNVL IREDGSCAIG DLGLALVLPG 

       370        380        390        400        410        420 
LTQPPAWTPT QPQGPAAIME AGTQRYMAPE LLDKTLDLQD WGMALRRADI YSLALLLWEI 

       430        440        450        460        470        480 
LSRCPDLRPD SSPPPFQLAY EAELGNTPTS DELWALAVQE RRRPYIPSTW RCFATDPDGL 

       490        500        510        520        530        540 
RELLEDCWDA DPEARLTAEC VQQRLAALAH PQESHPFPES CPRGCPPLCP EDCTSIPAPT 

       550        560        570 
ILPCRPQRSA CHFSVQQGPC SRNPQPACTL SPV

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Insensitivity to anti-Muellerian hormone due to a mutation in the human anti-Muellerian hormone receptor." Imbeaud S., Faure E., Lamarre I., Mattei M.-G., di Clemente N., Tizard R., Carre-Eusebe D., Belville C., Tragethon L., Tonkin C., Nelson J., McAuliffe M., Bidart J.-M., Lababidi A., Josso N., Cate R.L., Picard J.-Y. Nat. Genet. 11:382-388(1995) [PubMed: 7493017] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Structure and chromosomal localization of the human anti-Muellerian hormone type II receptor gene." Visser J.A., McLuskey A., van Beers T., Weghuis D.O., van Kessel A.G., Grootegoed J.A., Themmen A.P.N. Biochem. Biophys. Res. Commun. 215:1029-1036(1995) [PubMed: 7488027] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Human ovarian cancer, cell lines, and primary ascites cells express the human Muellerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS." Masiakos P.T., MacLaughlin D.T., Maheswaran S., Teixeira J., Fuller A.F. Jr., Shah P.C., Kehas D.J., Kenneally M.K., Dombkowski D.M., Ha T.U., Preffer F.I., Donahoe P.K. Clin. Cancer Res. 5:3488-3499(1999) [PubMed: 10589763] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Testis.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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 PMDS-2 CYS-54; VAL-142; GLN-282; GLY-426; 444-LEU--GLU-452 DEL; ALA-458; HIS-491 AND CYS-504.
[6]	"Autosomal recessive segregation of a truncating mutation of anti-Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro." Messika-Zeitoun L., Gouedard L., Belville C., Dutertre M., Lins L., Imbeaud S., Hughes I.A., Picard J.-Y., Josso N., di Clemente N. J. Clin. Endocrinol. Metab. 86:4390-4397(2001) [PubMed: 11549681] [Abstract] Cited for: VARIANT PMDS-2 GLN-406.

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Web resources

Wikipedia

Anti-Mullerian hormone entry

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Cross-references

Sequence databases
	X89013 Genomic DNA. Translation: CAA61418.1. U29700 Genomic DNA. Translation: AAC50328.1. X91156 X91166 Genomic DNA. Translation: CAA62593.1. AF172932 mRNA. Translation: AAD48497.1. BC126316 mRNA. Translation: AAI26317.1.
PIR	JC4335.
RefSeq	NP_065434.1.
UniGene	Hs.659889
3D structure databases
HSSP	HSSP built from PDB template 1IAS based on UniProtKB P36897.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000135409. Homo sapiens. [Contig view]
GeneID	269.
KEGG	hsa:269.
Organism-specific databases
H-InvDB	HIX0036712.
HGNC	HGNC:465. AMHR2.
MIM	261550. phenotype. 600956. gene.
Orphanet	2856. Persistent Mullerian duct syndrome.
PharmGKB	PA24770.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOGENOM	Q16671.
HOVERGEN	Q16671.
Gene expression databases
ArrayExpress	Q16671.
CleanEx	HS_AMHR2.
GermOnline	ENSG00000135409. Homo sapiens.
Family and domain databases
InterPro	IPR017193. Anti-muellerian_hrmn_rcpt_II. IPR015771. Anti-muellerian_hrmn_rcpt_II_C. IPR000719. Prot_kinase_core. IPR017441. Protein_kinase_ATP_bd_CS. IPR017442. Se/Thr_pkinase-rel. IPR008271. Ser_thr_pkin_AS. [Graphical view]
PANTHER	PTHR23255:SF4. MIS_II_R. 1 hit.
Pfam	PF00069. Pkinase. 1 hit. [Graphical view]
PIRSF	PIRSF037392. AMHRII. 1 hit.
ProDom	PD000001. Prot_kinase. 1 hit. [Graphical view] [Entries sharing at least one domain]
PROSITE	PS00107. PROTEIN_KINASE_ATP. False negative. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. False negative. [Graphical view]
BLOCKS	Search...
Other Resources
DrugBank	DB00171. Adenosine triphosphate.
SOURCE	Search...
ProtoNet	Search...

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Entry information

Entry name

AMHR2_HUMAN

Accession

Primary (citable) accession number: Q16671
Secondary accession number(s): A0AVE1, Q13762

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	November 1, 1996
Last modified:	July 22, 2008
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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