InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DMTF1

Summary

InnateDB Protein

IDBP-718236.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DMTF1

Protein Name

Synonyms

DMP1; DMTF; hDMP1; MRUL;

Species

Homo sapiens

Ensembl Protein

ENSP00000464596

InnateDB Gene

IDBG-24801 (DMTF1)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00625, ECO:0000269PubMed:17936562}.

Disease Associations

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	3 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007049	cell cycle

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

PFAM

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y222

PhosphoSite

PhosphoSite-Q9Y222

TrEMBL

J3KRC1

UniProt Splice Variant

Entrez Gene

9988

UniGene

Hs.196129

RefSeq

HUGO

HGNC:14603

OMIM

608491

CCDS

HPRD

09770

IMGT

EMBL

AB209230 AC005076 AF084530 AF202144 AF202145 AK126664 AK296211 AK314622 BC007418 BC007447 BC029370 BC070064 CH471091

GenPept

AAC33480 AAD43181 AAG35613 AAG35614 AAH07418 AAH07447 AAH29370 AAH70064 BAD92467 BAG37188 BAG58937 EAW76963