| FAM219A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FAM219A , C9orf25, bA573M23.5, family with sequence similarity 219 member A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1919151 HomoloGene: 51830 GeneCards: FAM219A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. [5] The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.
In humans, C9orf25 is located at the 9p13.3 position on chromosome 9. [6] The gene is encoded on the sense strand (-) spanning the chromosomal locus from base pair 34,502,909 to 34,398,027. [5] [7] The span of the gene is 104,882 base pairs [8] [9] [10] [11] [12] [13] [14]
In humans there are 8 main transcript variants of the FAM219A gene. [7] All of these transcripts have varying lengths and splice sites with transcript variant 1 being the longest and most abundant. [5] [7] Only four of these transcripts encode for a protein product. [15]
The C9orf25 gene has orthologs in a wide variety of Eukaryotic organisms, including invertebrates. This gene has not been found in plants, fungi or protists. [17] C9orf25 is a slowly evolving gene. [16] It is also highly conserved throughout all of its known orthologs.
C9orf25 has a paralog FAM219B which is located on the long arm of chromosome 9 and is 198 amino acids long. [18] The C9orf25 and FAM219B genes duplicated and diverged between 684 and 797 million years ago.
The C9orf25 protein is composed of 185 amino acids. It has a molecular weight of 20.4 kilodaltons and an isoelectric point of 4.47. [19] It is a member of the FAM219 super family. The entire protein is still considered to be a domain of unknown function.
C9orf25 has no signal sequence and remains in the cytosol. [19]
The following are experimental post-transitional modifications for the C9orf25 protein: [20]
The secondary structure of the gene is predicted to have two stretches of alpha helices and one beta strand. The majority of the secondary structure of gene is random coils. [21]
The C9orf25 gene has medium to high expression in most tissues of the body. [22] The gene has particularly high expression in the nervous, digestive and male reproductive systems. [23]
The C9orf25 gene has many different interactions with a variety of other proteins that have an assortment of functions. [24] [25] The main ones that are listed on at least two reviewed sources are shown below.
| Interactor Gene | Full Protein Name | Method | Description | Clinical Significance (Potential) |
| LIMS3 | LIM Zinc finger domain | Two hybrid pooling approach | Senescent cell antigen containing protein | |
| PDE6D | Rhodopsin sensitive cGMP phosphodiesterase subunit | Two hybrid pooling approach | Regulates the activity of the RAS protein in the cytosol | Joubert Syndrome |
| NIPSNAP3A | NipSnap homolog 3A | Two Hybrid | Involved in the Acetylation and phosphorylation process | |
| CSNK1A1 | Casein Kinase 1 Alpha 1 | Two Hybrid | Serine/Threonine protein kinase. Participates in S phase checkpoint arrest by phosphorylating Claspin | NSEOE |
| SPRY2 | Protein Sprouty Homolog 2 | Two Hybrid | Antagonist of fibroblast growth factor | IgA nephropathy 3 |
| BTRC | F-box/WD repeat containing protein | Affinity Capture | Substrate recognition component of SCF ubiquitin-protein ligase (phosphorolation dependent ubiquination) | CD4 (HIV-1) degregation |
| MTA1 | Metastasis Associated Protein 1 | Affinity Capture | Cancer associated. DNA binding transcription factor activity | Esophageal and Breast cancer |
| MTA3 | Metastasis Associated Protein 3 | Affinity Capture | Maintains epithelial architecture. Regulation of E-cadherin levels | Cancers related to epithelial cells |
The C9orf25 protein is associated with several disease causing proteins, however does not seem to be responsible for disease on its own. [6] [15] The gene seems to have higher expression in metastatic cells. [22]
Protein ITFG3 also known as family with sequence similarity 234 member A (FAM234A) is a protein that in humans is encoded by the ITFG3 gene. Here, the gene is explored as encoded by mRNA found in Homo sapiens. The FAM234A gene is conserved in mice, rats, chickens, zebrafish, dogs, cows, frogs, chimpanzees, and rhesus monkeys. Orthologs of the gene can be found in at least 220 organisms including the tropical clawed frog, pandas, and Chinese hamsters. The gene is located at 16p13.3 and has a total of 19 exons. The mRNA has a total of 3224 bp and the protein has 552 aa. The molecular mass of the protein produced by this gene is 59660 Da. It is expressed in at least 27 tissue types in humans, with the greatest presence in the duodenum, fat, small intestine, and heart.
TSBP1 is a protein that in humans is encoded by the TSBP1 gene. C6orf10 is an open reading frame on chromosome 6 containing a protein that is ubiquitously expressed at low levels in the adult genome and may play a role during fetal development. C6orf10 has been found to be linked to both neurodegenerative and autoimmune diseases in adults. Expression of this gene is highest in the testis but is also seen in other tissue types such as the brain, lens of the eye and the medulla. TSBP1 was previously known as C6orf10.
Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.
WD repeat-containing protein 90 is a protein that, in humans, is encoded by the WDR90 gene (16p13.3). This human protein is 1750 amino acids, and has a molecular weight of 187.7 kDa. It contains multiple WD40 repeat domains and one domain of unknown function. This protein is conserved all the way back to invertebrates. Proteins containing WD transducin repeating domains have been found to play a role in a variety of functions ranging from signal transduction and transcription regulation to cell cycle control, autophagy and apoptosis.
Trinucleotide repeat containing 18 is a protein that in humans is encoded by the TNRC18 gene.
C17orf53 is a gene in humans that encodes a protein known as C17orf53, uncharacterized protein C17orf53. It has been shown to target the nucleus, with minor localization in the cytoplasm. Based on current findings C17orf53 is predicted to perform functions of transport, however further research into the protein could provide more specific evidence regarding its function.
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
Uncharacterized protein C16orf78(NP_653203.1) is a protein that in humans is encoded by the chromosome 16 open reading frame 78 gene.
C16orf90 or chromosome 16 open reading frame 90 produces uncharacterized protein C16orf90 in homo sapiens. C16orf90's protein has four predicted alpha-helix domains and is mildly expressed in the testes and lowly expressed throughout the body. While the function of C16orf90 is not yet well understood by the scientific community, it has suspected involvement in the biological stress response and apoptosis based on expression data from microarrays and post-translational modification data.
C20orf202 is a protein that in humans is encoded by the C20orf202 gene. In humans, this gene encodes for a nuclear protein that is primarily expressed in the lung and placenta.
C1orf122 is a gene in the human genome that encodes the cytosolic protein ALAESM.. ALAESM is present in all tissue cells and highly up-regulated in the brain, spinal cord, adrenal gland and kidney. This gene can be expressed up to 2.5 times the average gene in its highly expressed tissues. Although the function of C1orf122 is unknown, it is predicted to be used for mitochondria localization.
C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.
ProteinFAM89A is a protein which in humans is encoded by the FAM89A gene. It is also known as chromosome 1 open reading frame 153 (C1orf153). Highest FAM89A gene expression is observed in the placenta and adipose tissue. Though its function is largely unknown, FAM89A is found to be differentially expressed in response to interleukin exposure, and it is implicated in immune responses pathways and various pathologies such as atherosclerosis and glioma cell expression.
SMIM15(small integral membrane protein 15) is a protein in humans that is encoded by the SMIM15 gene. It is a transmembrane protein that interacts with PBX4. Deletions where SMIM15 is located have produced mental defects and physical deformities. The gene has been found to have ubiquitous but variable expression in many tissues throughout the body.
TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.
C3orf56 is a protein encoding gene found on chromosome 3. Although, the structure and function of the protein is not well understood, it is known that the C3orf56 protein is exclusively expressed in metaphase II of oocytes and degrades as the oocyte develops towards the blastocyst stage. Degradation of the C3orf56 protein suggests that this gene plays a role in the progression from maternal to embryonic genome and in embryonic genome activation.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
