ZNF384 explained

Zinc finger protein 384 is a protein that in humans is encoded by the ZNF384 gene.^{[1] [2] [3]}

Function

This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that ZNF384 may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants.^[3]

Clinical significance

Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia.^[3]

Further reading

• Matsuo MY, Asakawa S, Shimizu N, Kimura H, Nonaka M . Nucleotide sequence of the MHC class I genomic region of a teleost, the medaka (Oryzias latipes) . Immunogenetics . 53 . 10–11 . 930–40 . Feb 2002 . 11862394 . 10.1007/s00251-001-0427-3 . 8838301 .
• Graflund M, Sorbe B, Karlsson M . MIB-1, p53, bcl-2, and WAF-1 expression in pelvic lymph nodes and primary tumors in early stage cervical carcinomas: correlation with clinical outcome . International Journal of Oncology . 20 . 5 . 1041–7 . May 2002 . 11956602 . 10.3892/ijo.20.5.1041 .
• Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foà R, Hagemeijer A, Mecucci C, Marynen P . Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia . Cancer Research . 62 . 19 . 5408–12 . Oct 2002 . 12359745 .
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S . Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions . Genome Research . 14 . 9 . 1711–8 . Sep 2004 . 15342556 . 515316 . 10.1101/gr.2435604 .
• La Starza R, Aventin A, Crescenzi B, Gorello P, Specchia G, Cuneo A, Angioni A, Bilhou-Nabera C, Boqué C, Foà R, Uyttebroeck A, Talmant P, Cimino G, Martelli MF, Marynen P, Mecucci C, Hagemeijer A . CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients . Leukemia . 19 . 9 . 1696–9 . Sep 2005 . 15990865 . 10.1038/sj.leu.2403842 . 38530743 .
• Janssen H, Marynen P . Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling? . Experimental Cell Research . 312 . 7 . 1194–204 . Apr 2006 . 16510139 . 10.1016/j.yexcr.2006.02.001 .

Notes and References

1. Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA . cDNAs with long CAG trinucleotide repeats from human brain . Human Genetics . 100 . 1 . 114–22 . Jul 1997 . 9225980 . 10.1007/s004390050476 . 25999127 .
2. Thunyakitpisal P, Alvarez M, Tokunaga K, Onyia JE, Hock J, Ohashi N, Feister H, Rhodes SJ, Bidwell JP . Cloning and functional analysis of a family of nuclear matrix transcription factors (NP/NMP4) that regulate type I collagen expression in osteoblasts . Journal of Bone and Mineral Research . 16 . 1 . 10–23 . Jan 2001 . 11149472 . 10.1359/jbmr.2001.16.1.10 . 7982064 . free .
3. Web site: Entrez Gene: ZNF384 zinc finger protein 384.