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Protein

Transcriptional activator MN1

Gene

MN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable).By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169184-MONOMER.
SIGNORiQ10571.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcriptional activator MN1Curated
Alternative name(s):
Probable tumor suppressor protein MN1Curated
Gene namesi
Name:MN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: 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 ETV6.

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

DisGeNETi4330.
MalaCardsiMN1.
MIMi607174. phenotype.
OpenTargetsiENSG00000169184.
Orphaneti263662. Familial multiple meningioma.
PharmGKBiPA30893.

Polymorphism and mutation databases

BioMutaiMN1.
DMDMi215274133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000965211 – 1320Transcriptional activator MN1Add BLAST1320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei950PhosphoserineCombined sources1
Modified residuei954PhosphoserineCombined sources1
Modified residuei1007PhosphoserineCombined sources1
Modified residuei1081PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ10571.
MaxQBiQ10571.
PaxDbiQ10571.
PeptideAtlasiQ10571.
PRIDEiQ10571.

PTM databases

iPTMnetiQ10571.
PhosphoSitePlusiQ10571.

Expressioni

Tissue specificityi

Ubiquitously expressed. Highest levels in skeletal muscle.

Gene expression databases

BgeeiENSG00000169184.
CleanExiHS_MN1.
ExpressionAtlasiQ10571. baseline and differential.
GenevisibleiQ10571. HS.

Organism-specific databases

HPAiHPA003072.

Interactioni

Protein-protein interaction databases

BioGridi110473. 4 interactors.
IntActiQ10571. 1 interactor.
MINTiMINT-7970847.
STRINGi9606.ENSP00000304956.

Structurei

3D structure databases

ProteinModelPortaliQ10571.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi42 – 144Gly/His-richPROSITE-ProRule annotationAdd BLAST103
Compositional biasi336 – 517Pro-richPROSITE-ProRule annotationAdd BLAST182
Compositional biasi523 – 552Poly-GlnSequence analysisAdd BLAST30
Compositional biasi635 – 767Pro-richPROSITE-ProRule annotationAdd BLAST133

Phylogenomic databases

eggNOGiENOG410IEWX. Eukaryota.
ENOG410YZ22. LUCA.
GeneTreeiENSGT00390000001777.
HOVERGENiHBG106874.
InParanoidiQ10571.
OMAiLSPNYNM.
OrthoDBiEOG091G01PB.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_047533382Q → H.Corresponds to variant rs45589338dbSNPEnsembl.1

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.

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.
CCDSiCCDS42998.1.
RefSeqiNP_002421.3. NM_002430.2.
UniGeneiHs.268515.

3D structure databases

ProteinModelPortaliQ10571.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110473. 4 interactors.
IntActiQ10571. 1 interactor.
MINTiMINT-7970847.
STRINGi9606.ENSP00000304956.

PTM databases

iPTMnetiQ10571.
PhosphoSitePlusiQ10571.

Polymorphism and mutation databases

BioMutaiMN1.
DMDMi215274133.

Proteomic databases

EPDiQ10571.
MaxQBiQ10571.
PaxDbiQ10571.
PeptideAtlasiQ10571.
PRIDEiQ10571.

Protocols and materials databases

DNASUi4330.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4330.
DisGeNETi4330.
GeneCardsiMN1.
HGNCiHGNC:7180. MN1.
HPAiHPA003072.
MalaCardsiMN1.
MIMi156100. gene.
607174. phenotype.
neXtProtiNX_Q10571.
OpenTargetsiENSG00000169184.
Orphaneti263662. Familial multiple meningioma.
PharmGKBiPA30893.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEWX. Eukaryota.
ENOG410YZ22. LUCA.
GeneTreeiENSGT00390000001777.
HOVERGENiHBG106874.
InParanoidiQ10571.
OMAiLSPNYNM.
OrthoDBiEOG091G01PB.
PhylomeDBiQ10571.
TreeFamiTF331780.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169184-MONOMER.
SIGNORiQ10571.

Miscellaneous databases

ChiTaRSiMN1. human.
GeneWikiiMN1_(gene).
GenomeRNAii4330.
PROiQ10571.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169184.
CleanExiHS_MN1.
ExpressionAtlasiQ10571. baseline and differential.
GenevisibleiQ10571. HS.

Family and domain databases

ProtoNetiSearch...

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 2, 2016
This is version 128 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.