Reviewed,
UniProtKB/Swiss-Prot P03971 (MIS_HUMAN)
Last modified
June 16, 2009.
Version 101.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
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 |
| ||||
| Organism | Homo sapiens (Human) | ||||
| 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 | |
| Involvement in disease | Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS-1) [MIM:261550]. PMDS-1 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 |
| Gene Ontology (GO) | |
| Biological process | Mullerian duct regression Non-traceable author statement. Source: UniProtKB cell differentiationInferred from electronic annotation. Source: UniProtKB-KW cell-cell signaling Ref.1Traceable author statement. Source: ProtInc gonadal mesoderm developmentInferred from electronic annotation. Source: UniProtKB-KW sex determination Ref.1Traceable 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.1Traceable 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 PMDS-1. Ref.4 | VAR_007483 | |||||||
| Natural variant | 49 | 1 | I → S: dbSNP rs10407022. | VAR_007484 | |||||||
| Natural variant | 70 | 1 | L → P in PMDS-1. Ref.4 | VAR_007485 | |||||||
| Natural variant | 101 | 1 | G → V in PMDS-1. Ref.4 | VAR_007486 | |||||||
| Natural variant | 123 | 1 | R → W in PMDS-1. Ref.4 | VAR_007487 | |||||||
| Natural variant | 167 | 1 | Y → C in PMDS-1. Ref.4 | VAR_007488 | |||||||
| Natural variant | 185 | 1 | Q → E | VAR_007489 | |||||||
| Natural variant | 194 | 1 | R → C in PMDS-1. Ref.4 | VAR_007490 | |||||||
| Natural variant | 325 | 1 | Q → R Ref.3 | VAR_007491 | |||||||
| Natural variant | 477 | 1 | V → A in PMDS-1. Ref.4 | VAR_007492 | |||||||
| Natural variant | 506 | 1 | H → Q in PMDS-1. Ref.5 | VAR_031027 | |||||||
| Natural variant | 525 | 1 | C → Y in PMDS-1. Ref.5 | VAR_031028 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 515 | 1 | V → A in AAA98805. Ref.1 | ||||||||
Sequences
| ||||||||||||||||||
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: 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. 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 PMDS-1 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 PMDS-1 GLN-506 AND TYR-525. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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... |
Proteomic databases | |
| PRIDE | P03971. |
Genome annotation databases | |
| Ensembl | ENSG00000104899. Homo sapiens. [Contig 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 | |
| Bgee | P03971. |
| CleanEx | HS_AMH. HS_MIF. |
| 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] |
| ProDom | PD000357. TGFb. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| 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 |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


