Nuclear factor 1 A-type (NFIA)
The protein contains 509 amino acids for an estimated molecular weight of 55944 Da.
Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. (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.
- 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.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
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
DNA replication
Negative regulation of transcription by RNA polymerase II
Positive regulation of transcription by RNA polymerase II
Regulation of transcription by RNA polymerase II
Regulation of transcription, DNA-templated
Response to organic cyclic compound
Synapse maturation
Ureter development
Viral genome replication
Molecular Function
Chromatin binding
DNA-binding transcription activator activity, RNA polymerase II-specific
DNA-binding transcription factor activity
DNA-binding transcription factor activity, RNA polymerase II-specific
Proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific
RNA polymerase II cis-regulatory region sequence-specific DNA binding
Transcription factor binding
The reference OMIM entry for this protein is 600727
Nuclear factor i/a; nfia
Transcription factor nfia
Kiaa1439
DESCRIPTION
Nuclear factor I (NFI) proteins, such as NFIA, constitute a family of dimeric DNA-binding proteins with similar, and possibly identical, DNA-binding specificity. They function as cellular transcription factors and as replication factors for adenovirus DNA replication. Diversity in this protein family is generated by multiple genes, differential splicing, and heterodimerization (summary by Qian et al., 1995).CLONING
Qian et al. (1995) isolated partial cDNA sequences derived from 4 independent genes: NFIA, NFIB (600728), NFIC (600729), and NFIX (164005). By sequencing clones obtained from an adult brain cDNA library, Nagase et al. (2000) cloned NFIA, which they designated KIAA1439. The deduced protein contains 561 amino acids and shares complete sequence identity with rat nuclear factor-1 over 509 amino acids. RT-PCR ELISA detected moderate to high expression in all tissues examined. Highest expression was detected in heart and liver, followed by brain, lung, ovary, skeletal muscle, kidney, testis, fetal liver, fetal brain, pancreas, and spleen. NFIA was expressed at moderate to high levels in all adult brain regions tested, with highest expression in cerebellum and caudate nucleus.GENE STRUCTURE
Grunder et al. (2003) determined that the NFIA gene contains 11 exons. By ortholog comparisons using protein sequences from 7 vertebrate species, they identified 12 NFIA variants that are produced by alternative splicing.MAPPING
By FISH, Qian et al. (1995) mapped the NFIA and NFIB genes to chromosomes 1p31.3-p31.2 and 9p24.1, respectively. They localized the NFIC and NFIX genes to chromosome 19p13.3 in the order cen--NFIX--NFIC--tel. Comparison of the position of NFI genes and JUN genes (see JUNB, 165161) revealed a close physical linkage between members of the NFI and JUN gene families in the human genome. By FISH, Grunder et al. (2003) mapped the mouse Nfia and Nfib genes to chromosome 4C4-C6.GENE FUNCTION
Deneen et al. (2006) found that Nfia and Nfib were induced in the spinal cord ventricular zone of mouse embryos concomitant with induction of Glast (SLC1A3; 600111), a marker of gliogenesis. Using mouse and chicken embryos and embryonic rat cortical progenitor cells, they showed that Nfia and Nfib were necessary and sufficient to promote glial cell fate specification. At later embryonic stages, Nfia and Nfib promoted terminal astrocyte differentiation. Nfia also inhibited neurogenesis in ventricular zone progenitors. Rosa et al. (2007) identified a pathway by which PU.1 (SPI1; 165170) regulated human monocyte/macrophage differentiation. PU.1 activated transcription of MIR424 (300682), which translationally repressed NFIA, resulting in activation of differentiation-specific genes, such as MCSFR (CSF1R; 164770). regulated human monocyte/macrophage differentiation. PU.1 activated transcription of MIR424 (300682), which translationally repressed NFIA, resulting in activation of differentiation-specific genes, such as MCSFR (CSF1R; 164770).MOLECULAR GENETICS
Lu et al. (2007) reported 5 patients, including 2 half sibs, with balanced translocations or interstitial deletions of chromosome 1q31-q32 (613735) involving the NFIA gene confirmed by FISH and Southern blot analysis. Three of the patients had been previously reported by Campbell et al. (2002) and Shanske et al. (2004). The 2 half sibs had a 12-Mb deletion involving approximately 47 additional genes, and another ... 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 25, 2017: Additional information
No protein expression data in P. Mayeux work for NFIA
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 600727 was added.