InnateDB Protein
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IDBP-718148.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DMTF1
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Protein Name
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Synonyms
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DMP1; DMTF; hDMP1; MRUL;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000464092
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InnateDB Gene
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IDBG-24801 (DMTF1)
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Protein Structure
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Function |
Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1. {ECO:0000250, ECO:0000269PubMed:12917399}.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00625, ECO:0000269PubMed:17936562}.
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Disease Associations |
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Tissue Specificity |
Expressed at relatively low levels in colonic mucosa, ovary, peripheral leukocytes, prostate and small intestine, and at higher levels in spleen, testis and thymus. Expressed in multiple regions of the brain and CNS including amygdala, caudate, corpus callosum, hippocampus, substantia nigra and subthalamic nucleus. Isoform 1 is the predominant isoform in monocytes, macrophages and neutrophils, isoform 2 is most strongly expressed in peripheral blood leukocytes and quiescent CD34 positive cells, and isoform 3 is expressed at low levels in all hematopoietic cell types. Expression is frequently reduced in non- small-cell lung carcinomas (NSCLC) due to hemizygous gene deletion, strongly suggesting that this locus is haploinsufficient for tumor suppression. Loss of this locus frequently occurs in tumors which retain wild-type CDKN2A/ARF and p53/TP53 loci. Hemizygous gene deletion has also been observed in leukemic blasts from patients with abnormalities of the long arm of chromosome 7. {ECO:0000269PubMed:10095122, ECO:0000269PubMed:12917399, ECO:0000269PubMed:17936562}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
6
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y222
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PhosphoSite |
PhosphoSite-Q9Y222
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TrEMBL |
J3KRC1
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UniProt Splice Variant |
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Entrez Gene |
9988
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UniGene |
Hs.196129
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RefSeq |
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HUGO |
HGNC:14603
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OMIM |
608491
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CCDS |
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HPRD |
09770
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IMGT |
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EMBL |
AB209230
AC005076
AF084530
AF202144
AF202145
AK126664
AK296211
AK314622
BC007418
BC007447
BC029370
BC070064
CH471091
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GenPept |
AAC33480
AAD43181
AAG35613
AAG35614
AAH07418
AAH07447
AAH29370
AAH70064
BAD92467
BAG37188
BAG58937
EAW76963
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