C3orf80

Membrane protein C3orf80 (C3orf80) is a human protein encoded by the C3orf80 gene.^[5]

C3orf80
Identifiers
Aliases	C3orf80, chromosome 3 open reading frame 80
External IDs	MGI: 1915975; HomoloGene: 110165; GeneCards: C3orf80; OMA:C3orf80 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q25.33 Start 160,225,422 bp[1] End 160,228,213 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 E1 Start 68,776,919 bp[2] End 68,779,496 bp[2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 3: 68.78 – 68.78 Mb PubMed search [3] [4]
Wikidata
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Gene

C3orf80 is on chromosome 3 from 160,225,422 to 160,228,213 bp.^[6] It spans 2,792 bases on the plus strand and contains only one exon.^[5]

Neighboring genes of C3orf80 include IFT80, BRD7P2, and SMC4.^[5]

Gene	Orientation	Location	Function
IFT80	Minus strand	160,256,986-160,399,880	Part of IFT complex B[7]
BRD7P2	Plus strand	160,100,691-160,102,912	Pseudogene of BRD7[8]
SMC4	Plus strand	160,399,274-160,434,954	Part of the condensin complex[9]

Transcript

The mRNA transcript of human C3orf80 contains no introns, has only one isoform, and the complete sequence has been found.^[5][10]

Expression

PROTTER diagram of C3orf80^[11]

Annotated AlphaFold model of C3orf80^[12]

Expression of C3orf80 is highest in the cerebral cortex, esophagus, and colon.^[13] A higher expression of C3orf80 has been observed from multiple sclerosis brain lesions.^[14][15] 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.^[16] A 107.61 fold increase in expression was seen after inhibition of CLIC1 in esophageal squamous cell carcinoma.^[17] C3orf80 was one of three genes' expression levels found to form the best machine learning model for predicting invasive carcinoma.^[18] Finally, C3orf80 was one of 34 genes used in a machine learning model to predict if patients had a response to FOLFIRI chemotherapy.^[19]

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.^[6] The protein is annotated to be a single-pass membrane protein, localizing at the cell membrane.^[20] The amino acid sequence of C3orf80 contains a signal peptide, transmembrane region, disordered region, glycosylation, and domain of unknown function 4719 (DUF4719).^[20]

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.^[21] Immunochemical staining has shown protein localization in cilia of glandular cells of the human fallopian tube.^[22]

Evolution

Orthologs

Orthologs of human C3orf80 are specific to vertebrates.^[23] The farthest ortholog of human C3orf80 is found in Callorhinchus milii, with a date of divergence of 462 million years ago.^[24] Orthologs can be found in all major groups from Chondrichthyes to Mammalia; however, Aves have unique orthologs of C3orf80 compared to any other group.^[25][26]

Scientific Name	Common Name	Group	Date of Divergence (mya)[27]	Ortholog Accession Number	Sequence Length	Sequence Identity[28]	Sequence Similarity[28]
Homo sapiens	Human	Mammalia	0	NP_001161686.1[5]	247	100%	100%
Mus musculus	House mouse	Mammalia	87	NP_001161468.1[29]	247	92%	94%
Antechinus flavipes	Yellow-footed antechinus	Marsupialia	160	XP_051839055.1[30]	237	59%	65%
Sarcophilus harrisii	Tasmanian devil	Marsupialia	160	XP_031813452.1[31]	239	58%	65%
Alligator mississippiensis	American alligator	Reptilia	319	XP_019347204.1[32]	210	54%	58%
Mauremys mutica	Yellow pond turtle	Reptilia	319	XP_044885017.1[33]	203	50%	54%
Prinia subflava	Tawny-flanked prinia	Aves	319	XP_063264524.1[34]	179	27%	33%
Gallus gallus	Red junglefowl	Aves	319	XP_025009399.2[35]	145	26%	31%
Aquila chrysaetos	Golden eagle	Aves	319	XP_029884193.1[36]	319	20%	25%
Pseudophryne corroboree	Southern corroboree frog	Amphibia	352	XP_063772225.1[37]	194	48%	54%
Bufo bufo	Common toad	Amphibia	352	XP_040286993.1[38]	189	46%	53%
Pleurodeles waltl	Iberian ribbed newt	Amphibia	352	KAJ1088024.1[39]	240	41%	47%
Rhinatrema bivittatum	Rhinatrema	Amphibia	352	XP_029473235.1[40]	206	41%	46%
Protopterus annectens	West African lungfish	Sarcopterygii	408	XP_043926856.1[41]	210	38%	44%
Latimeria chalumnae	West Indian Ocean coelacanth	Sarcopterygii	415	XP_006002129.1[42]	189	39%	44%
Polypterus senegalus	Gray bichir	Actinopterygii	429	XP_039612526.1[43]	196	34%	45%
Chelmon rostratus	Copperband butterflyfish	Actinopterygii	429	XP_041796725.1[44]	219	31%	42%
Danio rerio	Zebrafish	Actinopterygii	429	XP_068069764.1[45]	162	31%	39%
Stegostoma tigrinum	Zebra shark	Chondrichthyes	462	XP_048398267.1[46]	196	30%	40%
Callorhinchus milii	Australian ghostshark	Chondrichthyes	462	XP_007888000.1[47]	220	29%	35%