Reviewed, UniProtKB/Swiss-Prot Q10571 (MN1_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable tumor suppressor protein MN1

Gene names

Name:

MN1

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	1320 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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	A chromosomal aberration involving MN1 may be a cause of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with TEL. Defects in MN1 may be a cause 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
Gene Ontology (GO)
None. [Check GOA]

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

	Sequence		Length	Mass (Da)
	Q10571-1 [UniParc]. Last modified November 25, 2008. Version 3. Checksum: 41CFFE16E5688B1C	FASTA	1,320	136,001
	10 20 30 40 50 60 MFGLDQFEPQ VNSRNAGQGE RNFNETGLSM NTHFKAPAFH TGGPPGPVDP AMSALGEPPI 70 80 90 100 110 120 LGMNMEPYGF HARGHSELHA GGLQAQPVHG FFGGQQPHHG HPGSHHPHQH HPHFGGNFGG 130 140 150 160 170 180 PDPGASCLHG GRLLGYGGAA GGLGSQPPFA EGYEHMAESQ GPESFGPQRP GNLPDFHSSG 190 200 210 220 230 240 ASSHAVPAPC LPLDQSPNRA ASFHGLPSSS GSDSHSLEPR RVTNQGAVDS LEYNYPGEAP 250 260 270 280 290 300 SGHFDMFSPS DSEGQLPHYA AGRQVPGGAF PGASAMPRAA GMVGLSKMHA QPPQQQPQQQ 310 320 330 340 350 360 QQPQQQQQQH GVFFERFSGA RKMPVGLEPS VGSRHPLMQP PQQAPPPPQQ QPPQQPPQQQ 370 380 390 400 410 420 PPPPPGLLVR QNSCPPALPR PQQGEAGTPS GGLQDGGPML PSQHAQFEYP IHRLENRSMH 430 440 450 460 470 480 PYSEPVFSMQ HPPPQQAPNQ RLQHFDAPPY MNVAKRPRFD FPGSAGVDRC ASWNGSMHNG 490 500 510 520 530 540 ALDNHLSPSA YPGLPGEFTP PVPDSFPSGP PLQHPAPDHQ SLQQQQQQQQ QQQQQQQQQQ 550 560 570 580 590 600 QQQQQQQQQQ RQNAALMIKQ MASRNQQQRL RQPNLAQLGH PGDVGQGGLV HGGPVGGLAQ 610 620 630 640 650 660 PNFEREGGST GAGRLGTFEQ QAPHLAQESA WFSGPHPPPG DLLPRRMGGS GLPADCGPHD 670 680 690 700 710 720 PSLAPPPPPG GSGVLFRGPL QEPMRMPGEG HVPALPSPGL QFGGSLGGLG QLQSPGAGVG 730 740 750 760 770 780 LPSAASERRP PPPDFATSAL GGQPGFPFGA AGRQSTPHSG PGVNSPPSAG GGGGSSGGGG 790 800 810 820 830 840 GGGAYPPQPD FQPSQRTSAS KLGALSLGSF NKPSSKDNLF GQSCLAALST ACQNMIASLG 850 860 870 880 890 900 APNLNVTFNK KNPPEGKRKL SQNETDGAAV AGNPGSDYFP GGTAPGAPGP GGPSGTSSSG 910 920 930 940 950 960 SKASGPPNPP AQGDGTSLSP NYTLESTSGN DGKPVSGGGG RGRGRRKRDS GHVSPGTFFD 970 980 990 1000 1010 1020 KYSAAPDSGG APGVSPGQQQ ASGAAVGGSS AGETRGAPTP HEKALTSPSW GKGAELLLGD 1030 1040 1050 1060 1070 1080 QPDLIGSLDG GAKSDSSSPN VGEFASDEVS TSYANEDEVS SSSDNPQALV KASRSPLVTG 1090 1100 1110 1120 1130 1140 SPKLPPRGVG AGEHGPKAPP PALGLGIMSN STSTPDSYGG GGGPGHPGTP GLEQVRTPTS 1150 1160 1170 1180 1190 1200 SSGAPPPDEI HPLEILQAQI QLQRQQFSIS EDQPLGLKGG KKGECAVGAS GAQNGDSELG 1210 1220 1230 1240 1250 1260 SCCSEAVKSA MSTIDLDSLM AEHSAAWYMP ADKALVDSAD DDKTLAPWEK AKPQNPNSKE 1270 1280 1290 1300 1310 1320 AHDLPANKAS ASQPGSHLQC LSVHCTDDVG DAKARASVPT WRSLHSDISN RFGTFVAALT

References

	« Hide 'large scale' referencesShow '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. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., 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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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: Epithelium.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
UniGene	Hs.268515
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q10571.
PTM databases
PhosphoSite	Q10571.
Proteomic databases
PRIDE	Q10571.
Genome annotation databases
Ensembl	ENST00000302326; ENSP00000304956; ENSG00000169184; Homo sapiens. [Genome view] ENST00000424656; ENSP00000397805; ENSG00000169184; Homo sapiens. [Genome view]
GeneID	4330.
KEGG	hsa:4330.
UCSC	uc003adj.1. human.
Organism-specific databases
CTD	4330.
GeneCards	GC22M026468.
HGNC	HGNC:7180. MN1.
HPA	HPA003072.
MIM	156100. gene. 607174. phenotype.
Orphanet	2495. Meningioma.
PharmGKB	PA28184.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q10571.
OMA	RDSGHVS.
Gene expression databases
ArrayExpress	Q10571.
Bgee	Q10571.
CleanEx	HS_MN1.
Genevestigator	Q10571.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	17039.
SOURCE	Search...

Entry information

Entry name

MN1_HUMAN

Accession

Primary (citable) accession number: Q10571
Secondary accession number(s): A9Z1V9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	November 25, 2008
Last modified:	November 3, 2009
This is version 72 of the entry and version 3 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.