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Q10571

- MN1_HUMAN

UniProt

Q10571 - MN1_HUMAN

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Protein

Probable tumor suppressor protein MN1

Gene

MN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in tumor suppression.

GO - Biological processi

  1. intramembranous ossification Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Probable tumor suppressor protein MN1
Gene namesi
Name:MN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:7180. MN1.

Pathology & Biotechi

Involvement in diseasei

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 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.

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

MIMi607174. phenotype.
Orphaneti263662. Familial multiple meningioma.
PharmGKBiPA30893.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13201320Probable tumor suppressor protein MN1PRO_0000096521Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ10571.
PaxDbiQ10571.
PRIDEiQ10571.

PTM databases

PhosphoSiteiQ10571.

Expressioni

Tissue specificityi

Ubiquitously expressed. Highest levels in skeletal muscle.

Gene expression databases

BgeeiQ10571.
CleanExiHS_MN1.
ExpressionAtlasiQ10571. baseline and differential.
GenevestigatoriQ10571.

Organism-specific databases

HPAiHPA003072.

Interactioni

Protein-protein interaction databases

BioGridi110473. 1 interaction.
IntActiQ10571. 1 interaction.
MINTiMINT-7970847.
STRINGi9606.ENSP00000304956.

Structurei

3D structure databases

ProteinModelPortaliQ10571.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi294 – 30815Poly-GlnAdd
BLAST
Compositional biasi523 – 55028Poly-GlnAdd
BLAST

Phylogenomic databases

eggNOGiNOG40247.
GeneTreeiENSGT00390000001777.
HOVERGENiHBG106874.
InParanoidiQ10571.
OMAiMAEQHAT.
OrthoDBiEOG7X0VGB.
PhylomeDBiQ10571.
TreeFamiTF331780.

Sequencei

Sequence statusi: Complete.

Q10571-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MFGLDQFEPQ VNSRNAGQGE RNFNETGLSM NTHFKAPAFH TGGPPGPVDP
60 70 80 90 100
AMSALGEPPI LGMNMEPYGF HARGHSELHA GGLQAQPVHG FFGGQQPHHG
110 120 130 140 150
HPGSHHPHQH HPHFGGNFGG PDPGASCLHG GRLLGYGGAA GGLGSQPPFA
160 170 180 190 200
EGYEHMAESQ GPESFGPQRP GNLPDFHSSG ASSHAVPAPC LPLDQSPNRA
210 220 230 240 250
ASFHGLPSSS GSDSHSLEPR RVTNQGAVDS LEYNYPGEAP SGHFDMFSPS
260 270 280 290 300
DSEGQLPHYA AGRQVPGGAF PGASAMPRAA GMVGLSKMHA QPPQQQPQQQ
310 320 330 340 350
QQPQQQQQQH GVFFERFSGA RKMPVGLEPS VGSRHPLMQP PQQAPPPPQQ
360 370 380 390 400
QPPQQPPQQQ PPPPPGLLVR QNSCPPALPR PQQGEAGTPS GGLQDGGPML
410 420 430 440 450
PSQHAQFEYP IHRLENRSMH PYSEPVFSMQ HPPPQQAPNQ RLQHFDAPPY
460 470 480 490 500
MNVAKRPRFD FPGSAGVDRC ASWNGSMHNG ALDNHLSPSA YPGLPGEFTP
510 520 530 540 550
PVPDSFPSGP PLQHPAPDHQ SLQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
560 570 580 590 600
RQNAALMIKQ MASRNQQQRL RQPNLAQLGH PGDVGQGGLV HGGPVGGLAQ
610 620 630 640 650
PNFEREGGST GAGRLGTFEQ QAPHLAQESA WFSGPHPPPG DLLPRRMGGS
660 670 680 690 700
GLPADCGPHD PSLAPPPPPG GSGVLFRGPL QEPMRMPGEG HVPALPSPGL
710 720 730 740 750
QFGGSLGGLG QLQSPGAGVG LPSAASERRP PPPDFATSAL GGQPGFPFGA
760 770 780 790 800
AGRQSTPHSG PGVNSPPSAG GGGGSSGGGG GGGAYPPQPD FQPSQRTSAS
810 820 830 840 850
KLGALSLGSF NKPSSKDNLF GQSCLAALST ACQNMIASLG APNLNVTFNK
860 870 880 890 900
KNPPEGKRKL SQNETDGAAV AGNPGSDYFP GGTAPGAPGP GGPSGTSSSG
910 920 930 940 950
SKASGPPNPP AQGDGTSLSP NYTLESTSGN DGKPVSGGGG RGRGRRKRDS
960 970 980 990 1000
GHVSPGTFFD KYSAAPDSGG APGVSPGQQQ ASGAAVGGSS AGETRGAPTP
1010 1020 1030 1040 1050
HEKALTSPSW GKGAELLLGD QPDLIGSLDG GAKSDSSSPN VGEFASDEVS
1060 1070 1080 1090 1100
TSYANEDEVS SSSDNPQALV KASRSPLVTG SPKLPPRGVG AGEHGPKAPP
1110 1120 1130 1140 1150
PALGLGIMSN STSTPDSYGG GGGPGHPGTP GLEQVRTPTS SSGAPPPDEI
1160 1170 1180 1190 1200
HPLEILQAQI QLQRQQFSIS EDQPLGLKGG KKGECAVGAS GAQNGDSELG
1210 1220 1230 1240 1250
SCCSEAVKSA MSTIDLDSLM AEHSAAWYMP ADKALVDSAD DDKTLAPWEK
1260 1270 1280 1290 1300
AKPQNPNSKE AHDLPANKAS ASQPGSHLQC LSVHCTDDVG DAKARASVPT
1310 1320
WRSLHSDISN RFGTFVAALT
Length:1,320
Mass (Da):136,001
Last modified:November 25, 2008 - v3
Checksum:i41CFFE16E5688B1C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti382 – 3821Q → H.
Corresponds to variant rs45589338 [ dbSNP | Ensembl ].
VAR_047533

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X82209 mRNA. Translation: CAA57693.2.
AL031591 Genomic DNA. No translation available.
FO393416 Genomic DNA. No translation available.
CH471095 Genomic DNA. Translation: EAW59741.1.
Z70218 mRNA. Translation: CAA94179.1.
CCDSiCCDS42998.1.
RefSeqiNP_002421.3. NM_002430.2.
UniGeneiHs.268515.

Genome annotation databases

EnsembliENST00000302326; ENSP00000304956; ENSG00000169184.
GeneIDi4330.
KEGGihsa:4330.
UCSCiuc003adj.3. human.

Polymorphism databases

DMDMi215274133.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X82209 mRNA. Translation: CAA57693.2 .
AL031591 Genomic DNA. No translation available.
FO393416 Genomic DNA. No translation available.
CH471095 Genomic DNA. Translation: EAW59741.1 .
Z70218 mRNA. Translation: CAA94179.1 .
CCDSi CCDS42998.1.
RefSeqi NP_002421.3. NM_002430.2.
UniGenei Hs.268515.

3D structure databases

ProteinModelPortali Q10571.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110473. 1 interaction.
IntActi Q10571. 1 interaction.
MINTi MINT-7970847.
STRINGi 9606.ENSP00000304956.

PTM databases

PhosphoSitei Q10571.

Polymorphism databases

DMDMi 215274133.

Proteomic databases

MaxQBi Q10571.
PaxDbi Q10571.
PRIDEi Q10571.

Protocols and materials databases

DNASUi 4330.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000302326 ; ENSP00000304956 ; ENSG00000169184 .
GeneIDi 4330.
KEGGi hsa:4330.
UCSCi uc003adj.3. human.

Organism-specific databases

CTDi 4330.
GeneCardsi GC22M028144.
HGNCi HGNC:7180. MN1.
HPAi HPA003072.
MIMi 156100. gene.
607174. phenotype.
neXtProti NX_Q10571.
Orphaneti 263662. Familial multiple meningioma.
PharmGKBi PA30893.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40247.
GeneTreei ENSGT00390000001777.
HOVERGENi HBG106874.
InParanoidi Q10571.
OMAi MAEQHAT.
OrthoDBi EOG7X0VGB.
PhylomeDBi Q10571.
TreeFami TF331780.

Miscellaneous databases

ChiTaRSi MN1. human.
GeneWikii MN1_(gene).
GenomeRNAii 4330.
NextBioi 17039.
PROi Q10571.
SOURCEi Search...

Gene expression databases

Bgeei Q10571.
CleanExi HS_MN1.
ExpressionAtlasi Q10571. baseline and differential.
Genevestigatori Q10571.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1305-1320.
    Tissue: Brain.
  6. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMN1_HUMAN
AccessioniPrimary (citable) accession number: Q10571
Secondary accession number(s): A9Z1V9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 25, 2008
Last modified: November 26, 2014
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3