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C3orf80

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Human gene

C3orf80
Identifiers
AliasesC3orf80, chromosome 3 open reading frame 80
External IDsMGI: 1915975; HomoloGene: 110165; GeneCards: C3orf80; OMA:C3orf80 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)
Chromosome 3 (human)Genomic location for C3orf80Genomic location for C3orf80
Band3q25.33Start160,225,422 bp
End160,228,213 bp
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)
Chromosome 3 (mouse)Genomic location for C3orf80Genomic location for C3orf80
Band3|3 E1Start68,776,919 bp
End68,779,496 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • Brodmann area 23

  • Brodmann area 46

  • prefrontal cortex

  • dorsolateral prefrontal cortex

  • Brodmann area 9

  • middle temporal gyrus

  • primary visual cortex

  • right frontal lobe

  • superior frontal gyrus
Top expressed in
  • lumbar spinal ganglion

  • prefrontal cortex

  • ventricular zone

  • Region I of hippocampus proper

  • endocardial cushion

  • blastocyst

  • visual cortex

  • medial ganglionic eminence

  • superior frontal gyrus

  • primary visual cortex
More reference expression data
BioGPS
n/a
Orthologs
SpeciesHumanMouse
Entrez

401097

68725

Ensembl

ENSG00000180044

ENSMUSG00000046999

UniProt

F5H4A9

E9Q0B3

RefSeq (mRNA)

NM_001168214

NM_001167996

RefSeq (protein)

NP_001161686

NP_001161468

Location (UCSC)Chr 3: 160.23 – 160.23 MbChr 3: 68.78 – 68.78 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Membrane protein C3orf80 (C3orf80) is a human protein encoded by the C3orf80 gene.

Gene

C3orf80 is on chromosome 3 from 160,225,422 to 160,228,213 bp. It spans 2,792 bases on the plus strand and contains only one exon.

Neighboring genes of C3orf80 include IFT80, BRD7P2, and SMC4.

Gene Orientation Location Function
IFT80 Minus strand 160,256,986-160,399,880 Part of IFT complex B
BRD7P2 Plus strand 160,100,691-160,102,912 Pseudogene of BRD7
SMC4 Plus strand 160,399,274-160,434,954 Part of the condensin complex

Transcript

The mRNA transcript of human C3orf80 contains no introns, has only one isoform, and the complete sequence has been found.

Expression

PROTTER diagram of C3orf80
Annotated AlphaFold model of C3orf80

Expression of C3orf80 is highest in the cerebral cortex, esophagus, and colon. A higher expression of C3orf80 has been observed from multiple sclerosis brain lesions. Expression of C3orf80 has also been found by machine learning to be associated with different forms of cancer. A two-fold increase in expression was found in low-grade glioma based on whether the cells expressed CMTM3 or not. A 107.61 fold increase in expression was seen after inhibition of CLIC1 in esophageal squamous cell carcinoma. C3orf80 was one of three genes' expression levels found to form the best machine learning model for predicting invasive carcinoma. Finally, C3orf80 was one of 34 genes used in a machine learning model to predict if patients had a response to FOLFIRI chemotherapy.

Protein

C3orf80 is 247 amino acids long, has a molecular weight of 25.6 kDa before modifications, and has been proven to exist at the protein level, however, the tertiary structure is unknown. The protein is annotated to be a single-pass membrane protein, localizing at the cell membrane. The amino acid sequence of C3orf80 contains a signal peptide, transmembrane region, disordered region, glycosylation, and domain of unknown function 4719 (DUF4719).

Graph showing corrected percent differences between orthologs and human genes over date of divergence.

Within humans, there is 0.02 ppm of C3orf80, a relatively low amount compared to other proteins. Immunochemical staining has shown protein localization in cilia of glandular cells of the human fallopian tube.

Evolution

Orthologs

Orthologs of human C3orf80 are specific to vertebrates. The farthest ortholog of human C3orf80 is found in Callorhinchus milii, with a date of divergence of 462 million years ago. Orthologs can be found in all major groups from Chondrichthyes to Mammalia; however, Aves have very unique orthologs of C3orf80 compared to any other group.

Scientific Name Common Name Group Date of Divergence (mya) Ortholog Accession Number Sequence Length Sequence Identity Sequence Similarity
Homo sapiens Human Mammalia 0 NP_001161686.1 247 100% 100%
Mus musculus House mouse Mammalia 87 NP_001161468.1 247 92% 94%
Antechinus flavipes Yellow-footed antechinus Marsupialia 160 XP_051839055.1 237 59% 65%
Sarcophilus harrisii Tasmanian devil Marsupialia 160 XP_031813452.1 239 58% 65%
Alligator mississippiensis American alligator Reptilia 319 XP_019347204.1 210 54% 58%
Mauremys mutica Yellow pond turtle Reptilia 319 XP_044885017.1 203 50% 54%
Prinia subflava Tawny-flanked prinia Aves 319 XP_063264524.1 179 27% 33%
Gallus gallus Red junglefowl Aves 319 XP_025009399.2 145 26% 31%
Aquila chrysaetos Golden eagle Aves 319 XP_029884193.1 319 20% 25%
Pseudophryne corroboree Southern corroboree frog Amphibia 352 XP_063772225.1 194 48% 54%
Bufo bufo Common toad Amphibia 352 XP_040286993.1 189 46% 53%
Pleurodeles waltl Iberian ribbed newt Amphibia 352 KAJ1088024.1 240 41% 47%
Rhinatrema bivittatum Rhinatrema Amphibia 352 XP_029473235.1 206 41% 46%
Protopterus annectens West African lungfish Sarcopterygii 408 XP_043926856.1 210 38% 44%
Latimeria chalumnae West Indian Ocean coelacanth Sarcopterygii 415 XP_006002129.1 189 39% 44%
Polypterus senegalus Gray bichir Actinopterygii 429 XP_039612526.1 196 34% 45%
Chelmon rostratus Copperband butterflyfish Actinopterygii 429 XP_041796725.1 219 31% 42%
Danio rerio Zebrafish Actinopterygii 429 XP_068069764.1 162 31% 39%
Stegostoma tigrinum Zebra shark Chondrichthyes 462 XP_048398267.1 196 30% 40%
Callorhinchus milii Australian ghostshark Chondrichthyes 462 XP_007888000.1 220 29% 35%

References

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