C22orf23

C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.

Gene

Size and locus

C22orf23 is a gene found in homo sapiens. It is located on Chromosome 22 on the minus strand, map position 22q13.1. It spans 10,620 base pairs. Its mRNA transcript is 1988 base pars long and has 7 exons. Its predicted function is protein binding, and molecular function.

Common aliases

C22orf23's aliases are: UPF0193 Protein EVG1, DJ1039K5.6, EVG1 'FLJ32787, and LOC84645'.

Protein

Primary sequence

The protein encoded by the mRNA sequence is 217 amino acids in length and has a predicted molecular mass of 25 kDa. The predicted isoelectric point is 9.8. It is located in the nucleus.

Domains and motifs

It is predicted to be an intracellular protein and does not have any predicted transmembrane domains. Due to its location and lack of predicted transmembrane domains, the protein structure is likely a globular protein.

Post-Translational Modifications

C22orf23 has many predicted post-translational modifications such as: phosphorylation sites, cell attachment sequences, N-myristoylation sites, O-linked glycosylation sites, glycation sites, Ac-ASQK cleaved-acetylated sites, and Sumoylation sites. Many of the predicted phosphorylation sites were also predicted to be O-linked glycosylation sites thus the phosphorylation site could be blocked altering that domain's structure or function.

Secondary Structure

The predicted secondary structure consists of alpha helices and disordered/coil regions. The predicted secondary structure model has a 28% coverage of the amino acid sequence with a 42.9% confidence.

Homology

Paralogs

There are currently no known paralogs to C22orf23.

Orthologs

Orthologs can be found in most major groups of species ranging from most similar in primates to most distant in a member of phylum Chytridiomycota. This includes: mammals, reptiles, birds, amphibian, bony fish, cartilaginous fish, invertebrates, and fungi. Orthologs may have first appeared in plants or fungi however it is uncertain.
This table lists several orthologs for C22orf23 and includes their species name, common name, taxonomic order, accession number, sequence length, sequence similarity, and evolutionary date of divergence.

Genus and species	Common name	Taxonomic group	Date of Divergence	Accession #	Sequence length	Sequence identity
Homo sapiens	Human	Primate	0		217	100
Piliocolobus tephrosceles	Ugandan Red Colobus	Primate	29		217	95
Propithecus coquereli	Coquerel's Sifaka	Primate	74		217	84
Marmota marmota marmota	Alpine Marmot	Rodent	90		217	73
Mus caroli	Ryukyu Mouse	Rodent	90		216	81
Physeter catodon	Sperm Whale	Even-toed ungulates	96		217	85
Odocoileus virginianus texanus	White Tailed Deer	Artiodactyla	96		217	86
Panthera pardus	Leopard	Carnivores	96		217	85
Rousettus aegyptiacus	Egyptian Fruit Bat	Bat	96		217	83
Condylura cristata	Star-nosed Mole	Eulipotyphla	96		217	80
Vombatus ursinus	Common Wombat	Diprotodontia	159		263	61
Nothoprocta perdicaria	Chilean Tinamou	Tinamiformes	312		234	61
Serinus canaria	Atlantic Canary	Passeriformes	312		223	57
Notechis scutatus	Tiger Snake	Squamata	312		234	56
Nanorana parkeri	High Himalaya Frog	Frog	352		225	51
Salvelinus alpinus	Arctic char	Salmoniformes	435		217	49
Rhincodon typus	Whale Shark	Carpet shark	473		232	48
Callorhinchus milii	Australian ghostshark	Chimaera	473		232	46
Apostichopus japonicus	Sea Cucumber	Synallactida	684		221	48
Crassostrea virginica	Eastern Oyster	Ostreoida	797		224	43
Capitella teleta	Segmented Annelid Worm	Capitellidae	797		221	39
Megachile rotundata	Leafcutter Bee	Hymenopterans	797		230	36
Stylophora pistillata	Hood Coral	Stony corals	824		219	42
Pocillopora damicornis	Cauliflower Coral	Scleractinia	824		220	42
Macrostomum lignano	Flatworm	Macrostomida	824		270	38
Trichoplax	Trichoplax	Tricoplaciformes	948		239	39
Spizellomyces punctatus	Fungi	Spizellomyces punctatus	1105		260	30

Expression

Promoter

The core promoter is GXP_7541220, and its coordinates are 37953445-37954669 and it is 1225 base pairs long.

Tissue expression

Human expression

Protein expression is highest in the testes however it is also expressed at low levels in many other tissues such as: brain, kidney, stomach, skin, thyroid, urinary bladder, placenta, endometrium, esophagus, and appendix, bone marrow, adipose, lung, and ovary.

Ortholog expression

Expression in orthologs Rattus norvegicus, is expressed primarily in the testes with low levels of expression in the: kidneys, lungs, heart, and uterus. Mus musculus is expressed primarily in the adrenal and testes, and also notably expressed in the: bladder, abdomen, heart, lungs, ovaries, and mammary gland.

Interactions

Protein Interactions

There are several predicted protein interactions: Cyclin-D1-binding protein 1 which may regulate cell cycle progression, Vacuolar protein sorting-associated protein 28 homolog which is involved as a regulator of vesicular trafficking, UPF0739 protein C1orf74, and estrogen related receptor gamma. These interacting proteins were identified as either having direct interactions or physical associations. They were identified through a variety of detection methods including affinity chromatography, 2 hybrid prey pooling, and 2 hybrid array. It also has predicted protein interactions with SH3 domain containing 19, EvC ciliary complex subunit 1, RIMS binding protein 3B, RIMS binding protein 3C,TSSK6-activating co-chaperone protein, V-set and immunoglobulin domain containing 8, family with sequence similarity 124 member B, small nucleolar RNA host gene 28, and transmembrane protein 200B. Evidence suggesting a functional link for these interactions were supported through Co-mention on PubMed.

Clinical Significance

Disease Association

C22orf23 was identified as belonging to one of two groups of pooled serum samples in a study that analyzed the difference between serum glycoproteins of hepatocellular carcinoma and that of normal serum. Deletions of parts of C22orf23 and several other genes including SOX10 has been observed in patients with peripheral demyelinating neuropathy, central demyelinating leukodystrophy, Waardenburg Syndrome, and Hirschsprung disease and is therefore, suggested to be a potential factor involved in these ailments. C22orf23 was also mentioned in a study of mutation profiles from ER+ breast cancer samples taken from postmenopausal patience. There were mutations found that affected C22orf23 among many other genes. In a study of epigenetic alterations involved in coronary artery disease, C22orf23 was found to have altered epigenetic modifications which could be involved in novel genes in Coronary artery disease. In a study that attempts to predict imprinted genes that maybe linked to Human disorders, C22orf23 was identified as homologous of imprinted Gene candidates showing linkage to schizophrenia. In another study it was listed as being a potently regulated protein in uterine leiomyoma.

Mutations

There are a total of 3340 SNPs within the 5’ and 3’ UTR, introns, exons, as well as some genes near the 5’ and 3’ UTR. There is a total of 225 SNPs within the coding sequence. Some of the SNPs occur in conserved amino acids within the coding sequence and some reported have one or more types of validation. Some of the SNPs have high heterozygosity scores and thus have a presence in the population.