Persius/hicric huggingface dataset:
C16orf46
Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.

# Gene
An alternative name for this gene is FLJ32702, however it is most commonly referred to as C16orf46.

## Location
The C16orf26 gene is found on chromosome 16q23.2 negative strand. The promoter region is 1152 base pairs long. It has three exons, one from 1-380 bp, the second from 381-1254 bp, and the third from 1255-1982 bp.

## Expression
C16orf46 is broadly expressed in the testis and thyroid as well as 18 other tissues. These tissue expression patterns are found to be low to moderate (25-50%). When looking at tissue profiles, the highest expression is in the adult mammalian kidney, liver, prefrontal cortex, cerebellum, heart, and brain.

# Protein

## Protein Analysis
The full C16orf46 protein is 417 amino acids long. It has no isoforms, and its most distant ortholog, Rhincodon typus (whale shark), also has no known isoforms. The molecular weight was found to be 45.8 kdal. The isoelectric point is 7.4, average for all proteins, and C16orf46 is electrically neutral.
C16orf46 is predicted to be found in the nucleus by all orthologs.
The secondary structure of C16orf46 has alternating alpha helices and beta sheets.

## Protein Level Regulation
In C16orf46, there is N-linked glycosylation, O-linked glycosylation, and SUMOylation.
There are phosphorylation sites found with the kinases CKII, CKI, PKC, and cdc2.
A coronavirus cleavage site is predicted at the 235 amino acid position. There are also tyrosine motif locations between amino acids 42-45 and 251-252.

# Transcript Level Regulation
mRNA folding on the 5' UTR predicts a stem loop twice in the area between base pairs 47-90.

# Homologs

## Orthologs
C16orf46 has over 50 orthologs ranging from primate to chordate. The table below shows a representation of the diversity of C16orf46 by listing a selection of orthologs found using NCBI. When C16orf46 Homo sapiens was run through a multiple alignment sequence program, Clustal Omega, against 20 true orthologs and 16 distant orthologs, Trp74 and Pro212 were found to be conserved in all.

## Paralogs
C16orf46 has no known paralogs.

# Mutations
C16orf46 has been compared against Fibrinogen, a protein which mutates rapidly, and Cytochrome C, a protein which mutates slowly.
As can be seen below, when multiple species of the three proteins were plotted, C16orf46 more closely resembled that of Fibrinogen than Cytochrome C, suggesting a possible rapid mutation.

# Interacting Proteins
C16orf46 interacts with FAT3 which has been linked to neurite interactions during development. C16orf46 is thought to have coexpression with the PLAC8L1 and CFAP43 gene, both of unknown function.

# Clinical Significance
There are higher levels of C16orf46 expression in pancreatic adenocarcinoma tumor epithelia tissue compared to the control. There is also higher gene expression in patients with small-cell carcinoma compared to the control.
C16orf58
Chromosome 16 open reading frame 58, or C16orf58, also known as  FLJ13638 is a protein which in humans is encoded by the C16orf58 gene. The gene itself is 18892 bp long, with mRNA of 2760 bp, and a protein sequence of 468 amino acids. There is a conserved domain of unknown, DUF647. No function has been determined for this gene yet, but it is predicted that it resides in the endoplasmic reticulum in the cytoplasm.

# Species distribution
C16orf58 has very interesting conservation in that it has orthologs back through plants and fungi. However, it has not been found in reptiles, birds, or amphibians. The below table shows some, but not all, orthologs which were found using BLAST.

# Protein Interactions
Though the function is still unknown, C16orf58 has been shown to interact with three different proteins:
- MVD MVD stands for disphosphomevalonate decarboxylase which is an enzyme which functions in cholesterol biosynthesis.
- BSCL2 BSCL2 is the Bernardinelli-Seip congenital lipodystrophy 2, or seipin.  It located in the endoplasmic reticulum and is thought to be important in the lipid droplet morphology.
- TSC22D4 The third interacting protein is TSC22D4,  TSC22 domain family member 4, and functions as a leucine zipper translational regulation.

# Structure
Although there are several sites that will give predictions on protein structure, C16orf58 does not have a known structure yet. That being said there is at least one transmembrane domain, if not more. Within the protein structure there are several extended areas with uncharged amino acids, these could be possible transmembrane domains, or hydrophobic cores. The below shows the charge of each of the amino acids in the protein sequence, + for positive, - for negative and 0 for uncharged. Note the large segments of uncharged amino acids appear bolded. These stretches of uncharged amino acids are conserved back through distant orthologs.
C16orf96
C16orf96, or chromosome 16 open reading frame 96, is a protein in humans that is encoded by C16orf96 that is found on the 16th chromosome. In Homo sapiens, the protein is 1141 amino acids in length

# Protein

## Characteristics
The molecular weight of the processed C16orf96 protein in humans is 125kdal with an isoelectric point of 6.58 About 9% of the amino acid makeup of C16orf96 is proline, which is significantly higher than an average human gene.

## Post Translational Modification
Human C16orf96 has a large amount of predicted phosphorylation sites on serines throughout the protein. C16orf96 also has been found in primates and mammals to have both a nuclear import and export signal

## Domains
This gene contains some known domains, such as: an RNA recognition motif, a Merozoite surface protein (MSP-1), a pentapeptide repeat MXKDX, and a domain of unknown function (DUF1387). These domains could give a hint of what the function of this gene is.

## Structure

### Secondary Structure
The majority of the secondary structure of C16orf96 is alpa-helices with coils being the second most abundant structure.

### Tertiary Structure
At this time there is no known tertiary structure for C16orf96.

## Cellular Localization
The C16orf96 protein is predicted to be localized in the nucleus 82% of the time and 4.5% of the time in the cytosol and 4.5% of the time in the mitochondria.

# Expression
C16orf96 expression is generally low in cells. in situ hybridization experiments suggest that C16orf96 RNA is only expressed in the testis while the EST profile for C16orf96 shows gene expression is low in testis and skin only.
Expression of the C16orf96 gene is modulated by the depletion of both hypoxia induced factor 1/2 (HIF1/2). When only one of the factors is depleted expression does not change suggesting that there is redundancy with these two HIF.

# Homology
Strict orthologs of this gene exist only in mammals. However, a portion of DUF1387 is found in more distant species back to reptiles. No orthologs of this gene can be found in plants, fungi, or bacteria. Suggesting that this gene is relatively new and evolves quickly.

# Function
The function of C16orf96 is currently unknown. Studies have cited this gene among many other genes as a possible candidate that has an effect on childhood obesity.
C17orf47
Uncharacterized protein C17orf47 is a protein that in humans is encoded by the gene C17orf47. The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons and the predicted protein is 570 amino acids long. There are currently no experimental structures for the C17orf47 gene product with a sequence identity >90%.

# Protein properties
Although C17orf47 is predicted to be an intracellular protein, its exact location is unknown. There is some confidence that the subcellular locations of C17orf47 include the cytosol, the nucleus, and mitochondrion. C17orf47 contains a domain of unknown function DUF4655, which has a length characteristic of that DUF family  There are three predicted regions of low complexity in C17orf47. These regions of low complexity may contain stress-response related terms which involve flexible binding for specific functions. There are three known polymorphic SNPs in C17orf47. There are 6 sites of post-translational modification supported by multiple records, according to Phosphosite.
The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons and the predicted protein is 570 amino acids long. There are currently no experimental structures for the C17orf47 gene product with a sequence identity >90%.

# Homology
Sixty-eight other organisms, mostly mammals, have orthologs with C17orf47.

# Expression
There is positive differential mRNA and protein expression of C17orf47 in normal tissue of testis. Specifically, nucleolar expression of the gene product occurs in the seminiferous ducts of the testis. While C17orf47 is not currently associated with any diseases, several cases of carcinoids displayed strong C17orf47 expression via staining with HPA028424 antibody provided by Sigma-Aldrich. Polyphen predicts C17orf47 variants to be benign.
During a study on the endocytic system, a weak but specific association with C17orf47 in the regulation of endocytosis was found. Knockdown of C17orf47 caused decreased epidermal growth factor endocytosis as well as decreased transferrin endocytosis. In another experiment, knockdown of C17orf47 resulted in decreased infection of cells by vaccinia virus.

# Predicted structure
C17orf50
Uncharacterized protein C17orf50 is a protein which in humans is encoded by the C17orf50 gene.

# Gene
The gene is located on the long arm of chromosome 17 on the forward strand at position 17q12. C17orf50 spans 4,200 base pairs from 35,760,897 to 35,765,079. In Humans, this gene encodes a protein that is 174 amino acids in length and has three exons.

## Regulation of Transcription
The promoter region for C17orf50 is 1417 base pairs longwith an accession number of GXP_123003 from Genomatix. The first half of the promoter is poorly conserved even among primates.
There are many binding sites for transcription factors found in the brain and embryonic tissue. particularly Brn-5 POU domain factor, which has three binding sites within the conserved region of the promoter. This transcription factor is expressed in layer IV of the neocortex of adults and at its highest levels in the developing brain and spinal cord.

# Homology/Evolution
Orthologs of this gene exist in Eukaryotes, predominantly in mammals. However, some homologs are present in birds, reptiles, and amphibians. There are no paralogs of this gene. The table below shows a short list of orthologs to trace the evolutionary history of C17orf50.
The most distant ortholog found diverged from humans approximately 352 million years ago, indicating that the protein arose shortly before that. When compared to other proteins, namely cytochrome c and fibrinogen alpha chain, uncharacterized protein C17orf50 is a rapidly evolving protein.

# Expression
C17orf50 is expressed at low levels in various tissues, such as lung, prostate, thymus, thyroid, trachea, small intestine, and stomach, and it is most highly expressed in the fetal brain.

# Protein
The unmodified molecular weight of C17orf50 protein is 19.3 kilodaltons. The protein has a negative charge cluster from position 21 to 52; this is a glutamate-rich region. There are 3 nuclear localization signals with no other retention signals, strongly indicating that the protein is localized to the nucleus.
Possible structure of Uncharacterized Protein C17orf50

## Domains
Uncharacterized protein C17orf50 contains a domain of unknown function (DUF4673) from position 5 to 172, which makes up the majority of the protein.

## Post-Translational Modifications
Uncharacterized protein C17orf50 contains two potential sumoylation sites at K7 and K12.
There are possible threonine and serine glycosylation sites throughout the protein.
Potential threonine, serine, and tyrosine phosphorylation sites are also present.

## Interacting Proteins
Uncharacterized protein C17orf50 has potential interactions with zinc finger protein 587(ZNF587), which is expressed throughout fetal tissue, including the brain, ZNF587 is expected to regulate transcription.
C19orf70
Chromosome 19 open reading frame 70, also known as QIL1, MICOS complex subunit MIC13 (MIC13) or Protein P117 is a protein that in humans is encoded by the C19orf70 gene.

# Structure
The C19orf70 gene is located on the p arm of chromosome 19 at position 13.3 and it spans 2,482 base pairs. The C19orf70 gene produces a 9.7 kDa protein composed of 88 amino acids.

# Function
The C19orf70 gene encodes for a subunit of the MICOS (mitochondrial contact site and cristae junction organizing system) complex of the mitochondrial innner membrane. The 700-kD complex plays diverse roles such as the maintenance  of crista junctions, formation of contact junctions to the outer membrane, and the dynamic regulation of mitochondrial membrane architecture. C19orf70, a component of the mature MICOS complex, localizes to the inner mitochondrial membrane at the cristae junctions and incorporates MINOS1 and MIC10 into the MICOS complex. The protein is necessary for the creation of the cristae junction, integrity of the cristae junction, and maintenance of cristae morphology. It is also essential for normal mitochondrial function.

# Clinical Significance
Mutations in C19orf70 has been shown to result in mitochondrial deficiencies and related disorders caused by the disassembly of MICOS complex with abnormal cristae morphology and failure of mitochondrial respiration. Major clinical manifestations have included mitochondrial hepato-encephalopathy and 3-methylglutaconic aciduria accompanied by severe psychomotor retardation, intractable seizures, cerebellar atrophy, early death, Lactic acidemia, neutropenia, and elevated liver transaminases.

# Interactions
C19orf70 has been known to interact with MRPL24, APOOL,STOML2,IMMT,MTX1,CHCHD3, and other proteins.
C1orf127
Uncharactarized protein C1orf127 is a protein that in humans is encoded by the C1orf127 gene, the structure and function of which is poorly understood by the scientific community. C1orf127 is targeted for extracellular secretion in humans.

# Gene
C1orf127 is located on the short arm of Chromosome 1 (1p36.22), spanning 35,566 base pairs from 10946471 to 10982037. It is oriented on the minus strand of the chromosome.

# mRNA
The primary assembly has 13 exons, and yields an 823 amino acid protein product. There are two known isoforms caused by alternative splicing.

# Protein
C1orf127s protein product is a member of the Ensembl protein family TF607005. The primary assembly weighs 89 kDa with an isoelectric point of 5.54, making it both longer and heavier than the average protein.

## Domains and Motifs
C1orf127 is contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily.  The functions of both domains are unknown. The protein also appears to have a cleavable signal peptide from Met1 to Pro18.

## Subcellular Localization
The protein C1orf127 is suggested to be localized to the extracellular matrix in humans.

## Post-Translational Modifications
C1orf127 undergoes N and O-linked glycosylation, and contains a number of potential phosphorylation sites.

### Protein-Protein Interactions
C1orf127 is suggested to interact with two different proteins, CCT3, a molecular chaperone, and CCT6B, also a molecular chaperone found in the testis. Because these interacting proteins are both molecular chaperones, it is possible that C1orf127 must undergo chaperone-assisted folding or unfolding.

# Expression
C1orf127 is not constitutively expressed, but it is expressed at low to medium levels in a variety of tissues. Greatest expression is observed in the stomach and pancreas. It is also thought to be expressed in certain areas of both the developing and adult brain, such as the cerebellum, as well as skeletal muscle tissue, the testis, cardiac muscle, and throughout the digestive system.
Little else is known about this genes expression, however a 2012 paper published in the World Journal of Gastroenterology suggested that its mis-expression could be used as a diagnostic marker locus in the detection of cancer

# Evolutionary History
C1orf127 has no paralogs within the human genome, however a number of orthologs have been identified, ranging across the jawed vertebrates, including a number of other mammals, marsupials, amphibians, and fish. One of the most distant ortholog identified is found in Danio rerio. Thus, the ancestor of C1orf127 likely arose around 435 MYA.
C6orf201
Chromosome 6 open reading frame 201, C6orf201, is a protein that in humans is encoded by the C6orf201 gene.
In humans this gene encodes for a nuclear protein that is primarily expressed in the testis.

# Gene
In humans, the gene is 51,558 base pairs long. The transcript that produces the longest protein of 140 amino acids is translated from unprocessed mRNA that has six exons and is 1664 nucleotides in length.
C6orf201-gene

## Aliases
Chromosome 6 open reading frame 201 (C6orf201) is also referred to as: dJ1013A10.5, MGC87625, RP5-1013A10.5, and LOC404220.

## Locus
C6orf201 is located on chromosome 6 at 6p25.2 position and is encoded on the plus strand. C6orf201 is located near the FAM217A gene and the ECI2 gene.

# Conservation
C6orf201 is highly conserved in primates, is moderately conserved in other mammals, and there is also conservation in a few reptiles. There is enough conservation in mycoplasma gallinarum to suggest that there may have been a horizontal gene transfer event sometime during the evolutionary history of C6orf201. There are no paralogs or gene duplication events for C6orf201.

## Orthologs
Homolog List

## Homologous domains
C6orf201 belongs to DUF4523 (Pfam15023), a functionally uncharacterized family of proteins that is found in mammals.

# Protein

## Names
Less common names of the C6orf201 protein are: protein MGC87625, hypothetical protein LOC404220, OTTHUMP00000213693, and OTTHUMP00000213725.

## General properties/features
In humans the longest protein variant is 140 amino acids long, has a molecular weight of 16.2 kDa, and an isoelectric point of 10.88. C6orf201 is predicted to be a nuclear protein.

## Modification and Structure
C6orf201 has multiple predicted PKC and CKII phosphorylation sites in humans. The protein also has a nuclear localization signal.  C6orf201 has a conserved alpha helix and a conserved beta strand in the protein.

## Protein interactions
C6orf201 interacts with SRPK1,TMEM106B, and APP.

# Expression
C6orf201 is primarily expressed in the testis of humans and is also expressed in the testis of adult mice and rats. GEO microarray data also supports expression of C6orf201 in the testis of humans and mouse.

# Clinical relevance

## Research Results
A toxicology study revealed that C6orf201 was one of the top 20 deregulated genes in monkeys that had been exposed to welding fumes for an extended period of time. Another study investigated gene expression after the use of a methylation inhibitor, C6orf201 being one of many genes investigated.
C9orf152
Chromosome 9 open reading frame 152 is a protein that in humans is encoded by the C9orf152 gene. The exact function of the protein is not completely understood.

# Gene
The human gene C9orf152 is located on the long (q) arm of Chromosome 9. Its cytogenetic location is 9q31.1. It has one known alias: bA470J20.2.
The DNA sequence encoding C9orf152 contains a single intron. The final mRNA consists of 2698 base pairs. Nucleotides 66-68 encode an upstream in frame stop codon.

# Evolution
C9orf152 has orthologs in mammals, birds, reptiles and amphibians. No orthologs have been detected in bony fish or in any invertebrates. The following table lists a subset of conserved orthologs.
Differences among shown orthologs suggest a slow rate of evolution.

# Protein
Chromosome 9 open reading frame 152 contains 239 amino acids. The molecular weight is 26.3 kilodaltons. The protein has a high chance of existing nuclear region of cells. There are likely no transmembrane regions. One isoform exists, containing 194 amino acids.
Within the coding sequence, there are two sumoylation sites and a single serine phosphorylation site.
There are three regions predicted to form alpha helices on the final protein.

# Expression
C9orf152 is expressed in the bladder, intestine, mammary gland, and trachea and in smaller amounts in the lungs, liver, prostate, uterus, and brain. Within the brain, expression of C9orf152 is limited to the olfactory bulb. Gene expression was found to increase in the presence of stress, including disease and heat stress.
A wide variety of transcription factors interact with the promoter of C9orf152, most notably two olfactory related factors (specifically, a neuron-specific olfactory factor and an olfactory associated zinc finger protein) and a negative glucocorticoid response element.
CACNA2D1
Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

# Gabapentinoids
alpha2/delta proteins are believed to be the molecular target of the gabapentinoids gabapentin and pregabalin, which are used to treat epilepsy and neuropathic pain.
CACNA2D3
Calcium channel, voltage-dependent, alpha 2/delta subunit 3 is a protein that in humans is encoded by the CACNA2D3 gene on chromosome 3 (locus 3p21.1).

# Function
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

# Clinical significance
Number of studies reported an association between methylation of the CACNA2D3 gene and cancer.

## Breast cancer
Methylation-dependent transcriptional silencing of CACNA2D3 gene may contribute to the metastatic phenotype of breast cancer. Analysis of methylation in the CACNA2D3 CpG island may have potential as a biomarker for risk of development of metastatic disease.

## Gastric cancer
The loss of CACNA2D3 gene expression through aberrant promoter hypermethylation may contribute to gastric carcinogenesis, and CACNA2D3 gene methylation is a useful prognostic marker for patients with advanced gastric cancer. Physical exercise was correlated with a lower methylation frequency of CACNA2D3.