Q10571 (MN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 90.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Probable tumor suppressor protein MN1 | ||
| 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 | 1320 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in tumor suppression. |
| Tissue specificity | Ubiquitously expressed. Highest levels in skeletal muscle. |
| Involvement in disease | Note=A chromosomal aberration involving MN1 may be a cause of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with TEL. Note=Defects in MN1 involved in the development of meningiomas, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Chromosomal rearrangement Polymorphism |
| Disease | Tumor suppressor |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Molecular function | binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1320 | 1320 | Probable tumor suppressor protein MN1 | PRO_0000096521 | |||||
Regions | |||||||||
| Compositional bias | 294 – 308 | 15 | Poly-Gln | ||||||
| Compositional bias | 523 – 550 | 28 | Poly-Gln | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1081 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Natural variant | 382 | 1 | Q → H. [dbSNP:rs45589338] | VAR_047533 | |||||
Experimental info | |||||||||
| Sequence conflict | 1320 | 1 | T → TSGLMGPAFLY in BC152905. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma." Deprez R.H.L., Riegman P.H.J., Groen N.A., Warringa U.L., van Biezen N.A., Molijn A.C., Bootsma D., de Jong P.J., Menon A.G., Kley N.A., Seizenger B.R., Zwarthoff E.C. Oncogene 10:1521-1528(1995) [PubMed: 7731706] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain. |
| [2] | Riegmann P.H.J. Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [3] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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]. |
| [6] | "The characteristics of different types of mRNA expressed in the human brain." Dmitrenko V.V., Garifulin O.M., Shostak E.A., Smikodub A.I., Kavsan V.M. Cyt. Genet. 30:41-47(1996) [PubMed: 9026990] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1305-1320. Tissue: Brain. |
| [7] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1081, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | X82209 mRNA. Translation: CAA57693.2. AL390210, AL031591 Genomic DNA. Translation: CAI17971.2. CH471095 Genomic DNA. Translation: EAW59741.1. BC152905 mRNA. No translation available. Z70218 mRNA. Translation: CAA94179.1. |
| IPI | IPI00477642. |
| RefSeq | NP_002421.3. NM_002430.2. |
| UniGene | Hs.268515. |
3D structure databases | |
| ProteinModelPortal | Q10571. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q10571. |
PTM databases | |
| PhosphoSite | Q10571. |
Polymorphism databases | |
| DMDM | 215274133. |
Proteomic databases | |
| PRIDE | Q10571. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000302326; ENSP00000304956; ENSG00000169184. |
| GeneID | 4330. |
| KEGG | hsa:4330. |
Organism-specific databases | |
| CTD | 4330. |
| GeneCards | GC22M028144. |
| HGNC | HGNC:7180. MN1. |
| HPA | HPA003072. |
| MIM | 156100. gene. 607174. phenotype. |
| neXtProt | NX_Q10571. |
| Orphanet | 263662. Familial multiple meningioma. |
| PharmGKB | PA30893. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00390000001777. |
| HOVERGEN | HBG106874. |
| InParanoid | Q10571. |
| OMA | TFFDKYS. |
| OrthoDB | EOG4R5020. |
Gene expression databases | |
| ArrayExpress | Q10571. |
| Bgee | Q10571. |
| CleanEx | HS_MN1. |
| Genevestigator | Q10571. |
Family and domain databases | |
| InterPro | IPR011989. ARM-like. [Graphical view] |
| Gene3D | G3DSA:1.25.10.10. ARM-like. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 17039. |
| SOURCE | Search... |
Entry information
| Entry name | MN1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q10571 Secondary accession number(s): A9Z1V9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: 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 |

Clusters with