ZNF384

ZNF384
Identifiers
Aliases	ZNF384 , CAGH1, CAGH1A, CIZ, ERDA2, NMP4, NP, TNRC1, zinc finger protein 384
External IDs	OMIM: 609951 MGI: 2443203 HomoloGene: 15849 GeneCards: ZNF384
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12p13.31 Start 6,666,477 bp [1] End 6,689,572 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 F2 Start 125,009,145 bp [2] End 125,037,870 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • metal ion binding • DNA binding • nucleic acid binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus Biological process • regulation of transcription, DNA-templated • transcription, DNA-templated • Duncan Kiige Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	171017	269800
Ensembl	ENSG00000126746	ENSMUSG00000038346
UniProt	Q8TF68	n/a
RefSeq (mRNA)	NM_001039916 NM_001039917 NM_001039918 NM_001039919 NM_001039920 NM_001135734 NM_133476	NM_001252083 NM_175557 NM_001347452 NM_001372420 NM_001372422 NM_001372424
RefSeq (protein)	NP_001035009 NP_001129206 NP_597733	n/a
Location (UCSC)	Chr 12: 6.67 – 6.69 Mb	Chr 6: 125.01 – 125.04 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Zinc finger protein 384 is a protein that in humans is encoded by the ZNF384 gene. ^{[5] [6] [7]}

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. ^[7]

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000126746 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038346 - 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. Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA (Jul 1997). "cDNAs with long CAG trinucleotide repeats from human brain". Human Genetics. 100 (1): 114–22. doi:10.1007/s004390050476. PMID   9225980. S2CID   25999127.
6. Thunyakitpisal P, Alvarez M, Tokunaga K, Onyia JE, Hock J, Ohashi N, Feister H, Rhodes SJ, Bidwell JP (Jan 2001). "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. doi:10.1359/jbmr.2001.16.1.10. PMID   11149472. S2CID   7982064.
7. "Entrez Gene: ZNF384 zinc finger protein 384".

Further reading

• Matsuo MY, Asakawa S, Shimizu N, Kimura H, Nonaka M (Feb 2002). "Nucleotide sequence of the MHC class I genomic region of a teleost, the medaka (Oryzias latipes)". Immunogenetics. 53 (10–11): 930–40. doi:10.1007/s00251-001-0427-3. PMID   11862394. S2CID   8838301.
• Graflund M, Sorbe B, Karlsson M (May 2002). "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. doi:10.3892/ijo.20.5.1041. PMID   11956602.
• Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foà R, Hagemeijer A, Mecucci C, Marynen P (Oct 2002). "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. PMID   12359745.
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• 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 (Sep 2005). "CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients". Leukemia. 19 (9): 1696–9. doi: 10.1038/sj.leu.2403842 . PMID   15990865.
• Janssen H, Marynen P (Apr 2006). "Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?". Experimental Cell Research. 312 (7): 1194–204. doi:10.1016/j.yexcr.2006.02.001. PMID   16510139.

External links

• ZNF384+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.