MDFI

MDFI
Identifiers
Aliases	MDFI , MyoD family inhibitor, I-MF, I-mfa
External IDs	OMIM: 604971 MGI: 107687 HomoloGene: 21150 GeneCards: MDFI
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p21.1 Start 41,636,882 bp [1] End 41,654,244 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 C|17 23.99 cM Start 48,126,253 bp [2] End 48,145,616 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence minor salivary gland body of tongue gallbladder canal of the cervix vagina upper lobe of left lung inferior ganglion of vagus nerve superior surface of tongue left uterine tube Top expressed in yolk sac basilar part of occipital bone external carotid artery internal carotid artery humerus Meckel's cartilage lip esophagus maxillary prominence sphenoid bone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding identical protein binding transcription factor binding Cellular component cytoplasm nucleus Biological process cytoplasmic sequestering of transcription factor embryonic skeletal system morphogenesis multicellular organism development trophoblast giant cell differentiation cell differentiation negative regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II dorsal/ventral axis specification negative regulation of Wnt signaling pathway negative regulation of DNA binding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4188 17240 Ensembl ENSG00000112559 ENSMUSG00000032717 UniProt Q99750 P70331 RefSeq (mRNA) NM_001300804 NM_001300805 NM_001300806 NM_005586 NM_001109973 NM_001276390 NM_001276391 NM_010783 RefSeq (protein) NP_001287733 NP_001287734 NP_001287735 NP_005577 NP_001103443 NP_001263319 NP_001263320 NP_034913 Location (UCSC) Chr 6: 41.64 – 41.65 Mb Chr 17: 48.13 – 48.15 Mb PubMed search [3] [4]
Wikidata
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MyoD family inhibitor is a protein that in humans is encoded by the MDFI gene. ^{[5] [6] [7]}

Function

This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. ^[7]

Interactions

MDFI has been shown to interact with:

• C9orf86, ^[8]
• GNAI2, ^[8]
• MyoD, ^[9]
• Myogenin, ^[9] and
• SIX1. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000112559 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000032717 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kraut N (Sep 1997). "The gene encoding I-mf (Mdfi) maps to human chromosome 6p21 and mouse chromosome 17". Mamm Genome. 8 (8): 618–9. doi:10.1007/s003359900517. PMID   9250874. S2CID   25160364.
6. Wang Q, Young TM, Mathews MB, Pe'ery T (Mar 2007). "Developmental regulators containing the I-mfa domain interact with T cyclins and Tat and modulate transcription". J Mol Biol. 367 (3): 630–46. doi:10.1016/j.jmb.2007.01.020. PMC   1868487 . PMID   17289077.
7. "Entrez Gene: MDFI MyoD family inhibitor".
8. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
9. Chen CM, Kraut N, Groudine M, Weintraub H (Sep 1996). "I-mf, a novel myogenic repressor, interacts with members of the MyoD family". Cell. 86 (5): 731–41. doi: 10.1016/s0092-8674(00)80148-8 . PMID   8797820. S2CID   16252710.

Further reading

• Chen CM, Kraut N, Groudine M, Weintraub H (1996). "I-mf, a novel myogenic repressor, interacts with members of the MyoD family". Cell. 86 (5): 731–41. doi: 10.1016/S0092-8674(00)80148-8 . PMID   8797820. S2CID   16252710.
• Kraut N, Snider L, Chen CM, Tapscott SJ, Groudine M (1999). "Requirement of the mouse I-mfa gene for placental development and skeletal patterning". EMBO J. 17 (21): 6276–88. doi:10.1093/emboj/17.21.6276. PMC   1170953 . PMID   9799236.
• Snider L, Thirlwell H, Miller JR, Moon RT, Groudine M, Tapscott SJ (2001). "Inhibition of Tcf3 binding by I-mfa domain proteins". Mol. Cell. Biol. 21 (5): 1866–73. doi:10.1128/MCB.21.5.1866-1873.2001. PMC   86756 . PMID   11238923.
• Ma R, Rundle D, Jacks J, Koch M, Downs T, Tsiokas L (2004). "Inhibitor of myogenic family, a novel suppressor of store-operated currents through an interaction with TRPC1". J. Biol. Chem. 278 (52): 52763–72. doi: 10.1074/jbc.M309610200 . PMID   14530267.
• Mizugishi K, Hatayama M, Tohmonda T, Ogawa M, Inoue T, Mikoshiba K, Aruga J (2004). "Myogenic repressor I-mfa interferes with the function of Zic family proteins". Biochem. Biophys. Res. Commun. 320 (1): 233–40. doi:10.1016/j.bbrc.2004.05.158. PMID   15207726.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.