Alternative titles; symbols
HGNC Approved Gene Symbol: ZNF385A
Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:54,369,136-54,391,298 (from NCBI)
Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004).
By searching an EST database for genes expressed in retina, followed by 5-prime RACE of a retina cDNA library, Sharma et al. (2004) cloned ZNF385A, which they called RZF. The deduced 366-amino acid protein contains 3 widely spaced C2H2-type zinc finger domains and a hydrophobic C-terminal region rich in proline, leucine, and alanine. It also has 3 putative nuclear localization signals, an N-glycosylation site, and several phosphorylation sites. Sharma et al. (2004) also identified several RZF splice variants that differ in the 5-prime UTR. Northern blot analysis of several human tissues detected abundant expression of a 2.5-kb transcript only in retina. Weak expression was found in skeletal muscle, placenta, brain, and heart. Rzf was expressed highly in bovine retina and weakly in bovine brain. In situ hybridization of human retina detected RZF expression restricted to the photoreceptor layer. In situ hybridization of mouse retina showed a somewhat different expression pattern. Western blot analysis of human retinal extract detected RZF at an apparent molecular mass of 40 kD and another protein of about 80 kD, which may have been an RZF dimer. RZF localized to the cytoplasm and nucleoli of transiently transfected human embryonic kidney cells.
The receptor for 1,4,5-trisphosphate, IP3R1 (ITPR1; 147265), localizes to dendrites and is thought to be locally translated in response to synaptic activity. Iijima et al. (2005) showed that the 3-prime UTR of mouse Ip3r1 was required as a cis element for dendritic localization of Ip3r1, and they identified Hzf as a trans-acting factor. Moreover, dendritic Ip3r1 mRNA in Purkinje cells and Bdnf (113505)-induced protein synthesis were both reduced in Hzf-deficient mice.
Sharma et al. (2004) determined that the ZNF385A gene contains 9 exons and spans about 16.5 kb. The translation start site is in exon 3.
The International Radiation Hybrid Mapping Consortium mapped the ZNF385A gene to chromosome 12 (RH158).
Kimura et al. (2002) found that Hzf-null mice were viable and of normal size at 1 week of age. However, they were smaller than normal mice at 3 weeks of age and frequently died of internal hemorrhaging, primarily in the brain and gastrointestinal tract. Kimura et al. (2002) determined that Hzf has a role in the assembly of alpha-granule substances and/or their packing into alpha granules during the process of megakaryopoiesis in mice.
Iijima, T., Imai, T., Kimura, Y., Bernstein, A., Okano, H. J., Yuzaki, M., Okano, H. Hzf protein regulates dendritic localization and BDNF-induced translation of type 1 inositol 1,4,5-trisphosphate receptor mRNA. Proc. Nat. Acad. Sci. 102: 17190-17195, 2005. [PubMed: 16286649] [Full Text: https://doi.org/10.1073/pnas.0504684102]
Kimura, Y., Hart, A., Hirashima, M., Wang, C., Holmyard, D., Pittman, J., Pang, X.-L., Jackson, C. W., Bernstein, A. Zinc finger protein, Hzf, is required for megakaryocyte development and hemostasis. J. Exp. Med. 195: 941-952, 2002. [PubMed: 11927637] [Full Text: https://doi.org/10.1084/jem.20011522]
Sharma, S., Dimasi, D., Higginson, K., Della, N. G. RZF, a zinc-finger protein in the photoreceptors of human retina. Gene 342: 219-229, 2004. [PubMed: 15527981] [Full Text: https://doi.org/10.1016/j.gene.2004.08.015]