C1orf52
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C1orf52
Chromosome 1 open reading frame 52, is a protein in Homo sapiens, encoded by the C1orf52 gene. C1orf52 exhibits cytoplasmic and nuclear expression in most tissues.[1]
Gene
C1orf52 is located on the minus strand of the short arm of Chromosome 1 at 1p22.3.[2] Including introns and exons, the gene is 9,720 base pairs with 3 exons.[3] C1orf52 is located downstream of BCL10.
Transcript
Including untranslated regions, the mRNA is 3254 base pairs long.[4] The mRNA contains a short 5' untranslated region of 29 base pairs.
Transcript Variants
There is a transcript variant that includes an additional exon.[2] This alternate exon in the coding region in variant 2 results in a frameshift after nucleotide 306 and early stop codon. The C1orf52 protein is not formed by this transcript because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay.[2]
| Exons | 1 | 2 | 3 | 4 | Protein Length (amino acids) |
| Transcript Variant 1 | 306 | - | 199 | 2750 | 182 |
| Transcript Variant 2 | 306 | 127 | 199 | 2750 | none |
No protein isoforms of C1orf52 have been reported. [5]
Protein
General Properties
The primary encoded protein consists of 182 amino acids with a molecular weight of ~20 kDa.[3] The protein contains a domain of unknown function (DUF4660), also known as pFAM15559, that is 98 amino acids long.[3] The domain of unknown function is flanked by two disordered regions, which make up the majority of the rest of the protein. C1orf52 enables RNA binding activity.
Homology
Paralogs
There were no paralogs of C1orf52 identified in the human genome.[5]
Orthologs
C1orf52 orthologs are found in all common classes of vertebrates: fish, birds, amphibians, reptiles, and mammals. Orthologs were also found in invertebrates including sponges, marine tunicate, and lanclets. Orthologs were not found in insects, fungi, plants or protists.
Orthologs of C1orf52 were traced back to the phylum Porifera.
| Genus and Species | Common Name | Taxonomic Order | Date of Divergence from Humans (MYA) | Assession Number | Sequence Length | Sequence Identity to Humans | Sequence Similarity to Humans |
|---|---|---|---|---|---|---|---|
| Homo Sapiens | Human | Primate | 0 | NP_932343.1 | 182 | 100% | 100% |
| Mus musculus | House Mouse | Rodentia | 87 | NP_079831.1 | 180 | 85.20% | 89.00% |
| Ornithorhynchus anatinus | Platypus | Monotreme | 180 | XP_028917768.1 | 191 | 61.70% | 71.00% |
| Harpia harpyja | Harpy Owl | Accipitriformes | 319 | XP_052658103.1 | 183 | 64.60% | 75.10% |
| Gallus gallus | Chicken | Galliformes | 319 | NP_001264489.2 | 183 | 63.00% | 71.40% |
| Taeniopygia guttata | Zebra finch | Passeriformes | 319 | XP_030134956.3 | 183 | 62.10% | 73.20% |
| Gopherus evgoodei | Goode’s thornscrub tortoise | Testudines | 319 | XP_038601107.1 | 187 | 64.70% | 73.30% |
| Alligator mississippiensis | Alligator | Crocodilia | 319 | XP_014450079.3 | 187 | 62.60% | 70.50% |
| Protobothrops mucrosquamatus | Pit viper | Squamata | 319 | XP_015668904.1 | 187 | 61.50% | 69.70% |
| Microcaecilia unicolor | Tiny Cayenne Caecilian | Gymnophiona | 352 | XP_030062820.1 | 184 | 62.20% | 72.00% |
| Xenopus laevis | African clawed frog | Anura | 352 | NP_001089243.1 | 171 | 60.90% | 70.80% |
| Pleurodeles waltl | Iberian ribbed newt | Urodela | 352 | KAJ1114225.1 | 182 | 57.10% | 67.90% |
| Protopterus annectens | West African Lung Fish | Ceratodontiformes | 408 | XP_043941971.1 | 181 | 53.50% | 70.10% |
| Polypterus senegalus | Gray bichir | Polypteriformes | 429 | XP_039591352 | 188 | 54.30% | 64.50% |
| Danio rerio | Zebrafish | Cypriniformes | 429 | NP_956836.1 | 214 | 45.90% | 58.30% |
| Pristis pectinata | Smalltooth Sawfish | Rhinopristiformes | 462 | XP_051869055.1 | 205 | 44.90% | 58.90% |
| Lampetra fluviatilis | European river lamprey | Petromyzontiformes | 563 | CAL5931002.1 | 242 | 26.70% | 36.00% |
| Branchiostoma floridae | Flordia Lanclet | Amphioxiformes | 581 | XP_035684389.1 | 234 | 24.70% | 37.70% |
| Styela clava | Sea squirt | Stolidobranchia | 596 | XP_039271545.1 | 236 | 25.40% | 39.90% |
| Geodia barretti | Deep Sea Sponge | Tetractinellida | 758 | CAI8039110.1 | 221 | 27.10% | 38.10% |
Clinical Significance
References
- ^ "C1orf52 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2024-09-21.
- ^ a b c "NCBI (National Center for Biotechnology Information) Gene Entry on C1orf52".
- ^ a b c "C1orf52 Gene - Chromosome 1 Open Reading Frame 52".
- ^ "NCBI (National Center for Biotechnology Information) Nucleotide Entry on C1orf52".
- ^ a b "Protein BLAST: search protein databases using a protein query". blast.ncbi.nlm.nih.gov. Retrieved 2024-09-21.