ZNF384

Zinc finger protein 384 is a protein that in humans is encoded by the ZNF384 gene.

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; OMA:ZNF384 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12p13.31 Start 6,666,477 bp End 6,689,572 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 F2 Start 125,009,145 bp End 125,037,870 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of uterus right lobe of thyroid gland right ovary right hemisphere of cerebellum left lobe of thyroid gland left uterine tube right adrenal cortex left ovary granulocyte Descending thoracic aorta Top expressed in otolith organ utricle Paneth cell granulocyte hand tail of embryo genital tubercle foot mesenteric lymph nodes condyle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding DNA binding nucleic acid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process regulation of transcription, DNA-templated transcription, DNA-templated regulation of transcription by RNA polymerase II 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
Wikidata
View/Edit Human View/Edit Mouse

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.

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.

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. S2CID 38530743.
• 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 U.S. 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.