Protein-coding gene in the species Homo sapiens
| ZNF384 |
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| Identifiers |
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| Aliases | ZNF384, CAGH1, CAGH1A, CIZ, ERDA2, NMP4, NP, TNRC1, zinc finger protein 384 |
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| External IDs | OMIM: 609951 MGI: 2443203 HomoloGene: 15849 GeneCards: ZNF384 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 12 (human)[1] |
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| | Band | 12p13.31 | Start | 6,666,477 bp[1] |
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| End | 6,689,572 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 6 (mouse)[2] |
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| | Band | 6|6 F2 | Start | 125,009,145 bp[2] |
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| End | 125,037,870 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - right lobe of thyroid gland
- left lobe of thyroid gland
- left uterine tube
- stromal cell of endometrium
- smooth muscle tissue
- canal of the cervix
- olfactory bulb
- body of stomach
- left adrenal gland
- right uterine tube
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| | Top expressed in | - otolith organ
- utricle
- Paneth cell
- hand
- foot
- condyle
- ankle
- ciliary body
- fossa
- hair follicle
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - metal ion binding
- DNA binding
- nucleic acid binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
| | Cellular component | | | Biological process | - regulation of transcription, DNA-templated
- transcription, DNA-templated
- regulation of transcription by RNA polymerase II
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | NM_001039916
NM_001039917
NM_001039918
NM_001039919
NM_001039920
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NM_001135734
NM_133476 |
| NM_001252083
NM_175557
NM_001347452
NM_001372420
NM_001372422
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NM_001372424 |
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| RefSeq (protein) | |
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NP_001035009
NP_001129206
NP_597733 |
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| Location (UCSC) | Chr 12: 6.67 – 6.69 Mb | Chr 6: 125.01 – 125.04 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000126746 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038346 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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.
- ^ a b c "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. 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
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
