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{| class="wikitable"
{| class="wikitable"
|+
|+
| style="text-align: center;" | Exons
!Exons
| style="text-align: center;" | 1
!1
| style="text-align: center;" | 2
!2
| style="text-align: center;" | 3
!3
| style="text-align: center;" | 4
!4
!Protein Length (amino acids)
| style="text-align: center;" | Protein Length (amino acids)
|-
|-
|Transcript Variant 1
| style="text-align: center;" | Transcript Variant 1
| style="text-align: center;" | 306
|306
| style="text-align: center;" | -
| -
| style="text-align: center;" | 199
|199
| style="text-align: center;" | 2750
|2750
| style="text-align: center;" | 182
|182
|-
|-
|Transcript Variant 2
| style="text-align: center;" | Transcript Variant 2
| style="text-align: center;" | 306
|306
| style="text-align: center;" | 127
|127
| style="text-align: center;" | 199
|199
| style="text-align: center;" | 2750
|2750
| style="text-align: center;" | none
|none
|}
|}
No protein [[Protein isoform|isoforms]] of C1orf52 have been reported. <ref name=":1">{{Cite web |title=Protein BLAST: search protein databases using a protein query |url=https://blast.ncbi.nlm.nih.gov/Blast.cgi?PAGE=Proteins |access-date=2024-09-21 |website=blast.ncbi.nlm.nih.gov}}</ref>
No protein [[Protein isoform|isoforms]] of C1orf52 have been reported. <ref name=":1">{{Cite web |title=Protein BLAST: search protein databases using a protein query |url=https://blast.ncbi.nlm.nih.gov/Blast.cgi?PAGE=Proteins |access-date=2024-09-21 |website=blast.ncbi.nlm.nih.gov}}</ref>
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=== Paralogs ===
=== Paralogs ===
There were no [[Sequence homology|paralogs]] of C1orf52 identified in the human genome.<ref name=":1" />
There were no [[Sequence homology|paralogs]] of C1orf52 identified in the human [[genome]].<ref name=":1" />


=== Orthologs ===
=== Orthologs ===
C1orf52 [[Sequence homology|orthologs]] are found in all common classes of [[Vertebrate|vertebrates:]] fish, birds, amphibians, reptiles, and mammals. Orthologs were also found in [[Invertebrate|invertebrates]] including sponges, marine tunicate, and a annelid worm. Orthologs were not found in insects, fungi, plants or protists.
C1orf52 [[Sequence homology|orthologs]] are found in all common classes of [[Vertebrate|vertebrates:]] fish, birds, amphibians, reptiles, and mammals. Orthologs were also found in [[Invertebrate|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]] [[Sponge|Porifera]].
Orthologs of C1orf52 were traced back to the [[phylum]] [[Sponge|Porifera]].

Revision as of 02:36, 17 October 2024

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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 gene neighborhood. B-cell lymphoma 10 (BCL10), B-cell lymphoma antisense 1 (BCL-AS1), dimethylarginine dimethylaminohydrolase 1 (DDAH1), and synapse defective Rho GTPase homolog 2 (SYDE2) genes are located in close proximity to C1orf52 on chromosome 1.

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

  1. ^ "C1orf52 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2024-09-21.
  2. ^ a b c "NCBI (National Center for Biotechnology Information) Gene Entry on C1orf52".
  3. ^ a b c "C1orf52 Gene - Chromosome 1 Open Reading Frame 52".
  4. ^ "NCBI (National Center for Biotechnology Information) Nucleotide Entry on C1orf52".
  5. ^ a b "Protein BLAST: search protein databases using a protein query". blast.ncbi.nlm.nih.gov. Retrieved 2024-09-21.
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