Cellular nucleic acid-binding protein (CNBP)
The protein contains 177 amino acids for an estimated molecular weight of 19463 Da.
Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression. (updated: March 4, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
Cholesterol biosynthetic process
Cholesterol homeostasis
G-quadruplex DNA formation
Negative regulation of transcription by RNA polymerase II
Positive regulation of cell population proliferation
Positive regulation of cytoplasmic translation
Positive regulation of transcription by RNA polymerase II
Positive regulation of transcription, DNA-templated
Regulation of transcription, DNA-templated
Transcription, DNA-templated
Molecular Function
DNA-binding transcription factor activity
DNA-binding transcription repressor activity, RNA polymerase II-specific
G-quadruplex DNA binding
MRNA binding
Poly(A) RNA binding
RNA binding
RNA polymerase II transcription regulatory region sequence-specific DNA binding
Single-stranded DNA binding
Single-stranded RNA binding
Translation regulator activity
Zinc ion binding
The reference OMIM entry for this protein is 116955
Zinc finger protein 9; znf9
Cellular retroviral nucleic acid-binding protein 1; cnbp1
DESCRIPTION
The ZNF9 protein contains 7 zinc finger domains and is believed to function as an RNA-binding protein. A CCTG expansion in intron 1 of the ZNF9 gene results in myotonic dystrophy-2 (602668).CLONING
Cholesterol homeostasis is maintained in part by negative feedback regulation of the genes for proteins involved in cholesterol synthesis and the cellular uptake of cholesterol. The apparent coordinate regulation of several such genes, including HMG-CoA reductase (142910), HMG-CoA synthase (142940), farnesylpyrophosphate synthetase (134629), and the LDL receptor (606945) suggest that these genes may be regulated by a common trans-acting factor that is able to 'sense' the levels of cellular sterols. In a search for such a trans-acting factor, Rajavashisth et al. (1989) identified a cDNA that encodes a 19-kD protein containing 7 highly conserved zinc finger repeats with remarkable sequence similarity to the finger domains of the family of retroviral nucleic acid-binding proteins (NBPs). They designated the protein cellular NBP (CNBP). In common with the viral NBPs, CNBP appeared to have a strong preference for single-stranded DNA.MAPPING
Lusis et al. (1990) assigned the CNBP gene to chromosome 3 by Southern analysis of DNAs from mouse/human somatic cell hybrids and regionalized the gene to 3q13.3-q24 by in situ hybridization.MOLECULAR GENETICS
Liquori et al. (2001) demonstrated that a CCTG repeat expansion in intron 1 of the ZNF9 gene is responsible for DM2 (602668). The range of expanded allele sizes is extremely broad, from 75 to approximately 11,000 CCTG repeats. The mean repeat length is about 5,000. The expanded ZNF9 RNA accumulates in discrete foci within the nucleus. ZNF9 contains 7 zinc finger domains and is thought to be an RNA-binding protein. It is broadly expressed, with the most abundant expression in heart and skeletal muscle, 2 tissues prominently affected in DM2. The similarity of mechanism of mutation between DM2 and DM1 (160900) is striking: a trinucleotide repeat expansion in the 3-prime untranslated region of the DMPK gene (605377) is responsible for DM1. Clinical and molecular parallels between DM1 and DM2 indicate that microsatellite expansions in RNA can themselves be pathogenic. To investigate the ancestral origins of the DM2 CCTG expansion, Liquori et al. (2003) used 19 short tandem repeat markers flanking the repeat tract to compare haplotypes of 71 families with genetically confirmed DM2. All the families were white, and most were of northern European/German descent; a single family was from Afghanistan. A common interval that was shared by all families with DM2 immediately flanked the repeat, extending up to 216 kb telomeric and 119 kb centromeric of the CCTG expansion. Liquori et al. (2003) examined haplotypes of 228 control chromosomes and identified a potential premutation allele with 20 uninterrupted CCTG repeats on a haplotype that was identical to the most common affected haplotype. The data suggested that the predominant northern European ancestry of families with DM2 resulted from a common founder and that the loss of interruptions within the CCTG portion of the repeat tract may predispose alleles to further expansion. To gain insight into possible function of the repeat tract, the authors looked for evolutionary conservation. The complex repeat motif and flanking sequences within intron 1 were found to be conserved among human, chimpanzee, gorilla, m ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 116955 was added.