PRDM16

PR domain containing 16
Identifiers
Symbols	PRDM16 ; KIAA1675; MEL1; PFM13
External IDs	Template:OMIM5 Template:MGI HomoloGene: 11139
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

PR domain containing 16, also known as PRDM16, is a human gene.

The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported.

Further reading

• Nakajima D, Okazaki N, Yamakawa H; et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. PMID 12168954.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bloomfield CD, Garson OM, Volin L; et al. (1986). "t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic-clinicopathologic association". Blood. 66 (6): 1409–13. PMID 4063527.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Secker-Walker LM, Mehta A, Bain B (1996). "Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study". Br. J. Haematol. 91 (2): 490–501. PMID 8547101.CS1 maint: Multiple names: authors list (link)
• Mochizuki N, Shimizu S, Nagasawa T; et al. (2000). "A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells". Blood. 96 (9): 3209–14. PMID 11050005.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagase T, Kikuno R, Hattori A; et al. (2001). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (6): 347–55. PMID 11214970.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xinh PT, Tri NK, Nagao H; et al. (2003). "Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5' region of MEL1". Genes Chromosomes Cancer. 36 (3): 313–6. doi:10.1002/gcc.10176. PMID 12557231.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nishikata I, Sasaki H, Iga M; et al. (2004). "A novel EVI1 gene family, MEL1, lacking a PR domain (MEL1S) is expressed mainly in t(1;3)(p36;q21)-positive AML and blocks G-CSF-induced myeloid differentiation". Blood. 102 (9): 3323–32. doi:10.1182/blood-2002-12-3944. PMID 12816872.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yoshida M, Nosaka K, Yasunaga J; et al. (2004). "Aberrant expression of the MEL1S gene identified in association with hypomethylation in adult T-cell leukemia cells". Blood. 103 (7): 2753–60. doi:10.1182/blood-2003-07-2482. PMID 14656887.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lahortiga I, Agirre X, Belloni E; et al. (2004). "Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells". Oncogene. 23 (1): 311–6. doi:10.1038/sj.onc.1206923. PMID 14712237.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ott MG, Schmidt M, Schwarzwaelder K; et al. (2006). "Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1". Nat. Med. 12 (4): 401–9. doi:10.1038/nm1393. PMID 16582916.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stevens-Kroef MJ, Schoenmakers EF, van Kraaij M; et al. (2006). "Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML". Leukemia. 20 (6): 1187–9. doi:10.1038/sj.leu.2404210. PMID 16598304.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stiffler MA, Grantcharova VP, Sevecka M, MacBeath G (2007). "Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays". J. Am. Chem. Soc. 128 (17): 5913–22. doi:10.1021/ja060943h. PMID 16637659.CS1 maint: Multiple names: authors list (link)

External links

• PRDM16+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.