Biology:CFAP299

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis.[1]

Gene

Location

CFAP299 gene is located at chromosome 4, 4q21.21 spanning 642,492 bases from position 80,321,265 to position 80,963,756 on the plus strand. CFAP299 gene is also known as C4orf22, chromosome 4 Open Reading Frame 22 and Uncharacterized Protein C4orf22.[2] CFAP299 gene is located near MRPS25P1 and BMP3 and it has 13 exons.[3]

CFAP299 gene location on chromosome 4

Expression

CFAP299 is widely expressed in a variety of normal tissue in Homo sapiens . CFAP299 is highly expressed in testis, trachea, lung, fetal lung and epididymis.[4] In terms of health state, CFAP299 has a decreased expression level in glioma, germ cell tumors and chondrosarcoma. An even higher expression of CFAP299 is shown in condition of soft tissue tumor and muscle tissue tumor. CFAP299 is only exist in fetus and adult.[5]

CFAP299 expression in 42 multiple normal tissues in human

Promoter

The promoter of CFAP299 gene is predicted to present 1000 base pairs upstream of the start of transcription. A variety of transcription factors such as CCAAT binding factors, X-box binding factors and AT rich interactive domain factor bind to promoter to regulate the sequence.[6]

mRNA

Splice variants

CFAP299 has 9 alternatively spliced variants and 1 unspliced form.[7]

Protein

General feature

CFAP299 protein contains 233 amino acids in length. The molecular weight of Homo sapiens CFAP299 protein is 26869 Da and the predicted isoelectric point is 5.28. Total number of negatively charged residues is 39 and total number of positively charged residues is 33.[8] Aspartic acid has a higher frequency in CFAP299 protein than in other human proteins.[9]

Isoforms

CFAP299 protein has two important isoforms. Cilia- and flagella-associated protein 299 isoform 1 is the longest isoform[3] and cilia- and flagella-associated protein 299 isoform 2 is chosen as canonical sequence,[10] which is also the target for this article.

Domains

There is only one conserved domain DUF4464 from position 13 to position 232 in CFAP299 protein.[3] This domain belongs to DUF4464 family, which is found in eukaryotes and the proteins in this family has a length of 224 to 241 amino acids.[11] This domain is conserved through the orthologs of CFAP299 as indicated by BLAST.[12]

Secondary structure

CFAP299 proteins secondary structure is dominated by alpha helix and random coil as predicted by GOR4.[13]

Secondary structure of CFAP299 predicted by GOR4

Tertiary structure

Tertiary structure of CFAP299 protein predicted by I-TASSER showed that the protein is comprised by alpha helix and coils.[14]

I-TASSER result of tertiary structure of CFAP299 protein

Post-translational modifications

CFAP299 is predicted to undergo phosphorylation in various site as shown in graph.[15] CFAP299 also predicted to have sumoylation site in position 58, 137 and 232 and two SUMO-interaction Motifs in position 45-49 and 212-216.[16]

CFAP299 phosphorylation site predicted by Netphos
Sumoylation site and Sumoylation interaction motifs of CFAP299 protein

Subcellular localization

CFAP299 protein is targeted to cytoplasm.[17]

Interacting proteins

CFAP299 protein is believed to interact with amyloid beta (A4) precursor protein (APP)[18] and BCL2-associated athanogene 3 (BCL2).[19]

Evolution

OrthologS

CFAP299 protein orthologs exists in mammals, reptiles, birds, amphibians, fish, sponges, sea urchins, insects, fungi and plants. Its most distant relative appear in plants. The table below shows orthologs found by BLAST.[12]

Genus and species Common name Taxonomic Group Date of divergence accession number sequence length sequence identity sequence similarity
Homo Sapiens Human Mammalia 0 NP_689983.2 233 100% 100%
Ochotona princeps American pika Lagomorpha 88 XP_004590671.1 233 85% 93%
Mus musculus House mouse Rodentia 88 NP_001019785 233 85% 91%
Eumetopias jubatus Steller sea lion Carnivora 94 XP_027980031 233 86% 93%
Erinaceus europaeus European hedgehog Soricomorpha 94 XP_007518562 233 83% 93%
Ornithorhynchus anatinus platypus Monotremata 169 XP_007659769 164 74% 88%
Pogona vitticeps Central bearded dragon Reptilia 320 XP_020658829 236 72% 85%
Anolis carolinensis Green anole Reptilia 320 XP_008118093 193 71% 85%
Dromaius novaehollandiae Emu Aves 320 XP_025959155 226 64% 81%
Anas platyrhynchos Mallard Aves 320 XP_027312784.1 243 58% 75%
Xenopus laevis African clawed frog Amphibia 353 NP_001088722 233 73% 89%
Nanorana parkeri Xizang Plateau frog Amphibia 353 XP_018414504.1 233 73% 88%
Danio rerio Zebrafish Actinopterygii 432 NP_001108596 239 60% 77%
Callorhinchus milii Australian ghostshark Chondrichthyes 465 XP_007895157 235 68% 82%
Strongylocentrotus purpuratus Pacific purple sea urchin Echinoidea 627 XP_011663002 236 66% 80%
Nematostella vectensis Starlet sea anemone Anthozoa 685 XP_001619741.1 199 61% 70%
Drosophila melanogaster Fruit fly Insecta 794 NP_650260.1 233 31% 46%
Amphimedon queenslandica Sponge Demospongiae 951.8 XP_003382446 235 64% 80%
Batrachochytrium dendrobatidis Chytridiomycetes Amphibian chytrid fungus 1150 XP_006681372 238 61% 78%
Physcomitrella patens Spreading earthmoss Bryopsida 1624 XP_024379106 255 50% 65%

Paralog

There are no parlogs for CFAP299.[2][12]

Clinical significance

CFAP299 expression is lowered in people with teratozoospermia,  a condition that causes abnormal morphology of sperm and decreased fertility.[20]

In airway epithelial cells that had excessive mucous secretion, a condition that simulated chronic lung disease, CFAP299 showed a reduced expression.[21]

References

  1. ↑ "Cloning of a new testis-enriched gene C4orf22 and its role in cell cycle and apoptosis in mouse spermatogenic cells". Molecular Biology Reports 46 (2): 2029–2038. April 2019. doi:10.1007/s11033-019-04651-8. PMID 30820741. 
  2. ↑ 2.0 2.1 "GeneCards CFAP299". https://www.genecards.org/cgi-bin/carddisp.pl?gene=CFAP299&keywords=cfap299. 
  3. ↑ 3.0 3.1 3.2 "CFAP299 cilia and flagella associated protein 299 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/255119#gene-expression. 
  4. ↑ "Home - GEO Profiles - NCBI". https://www.ncbi.nlm.nih.gov/geoprofiles/. 
  5. ↑ "Home - Nucleotide - NCBI". https://www.ncbi.nlm.nih.gov/nuccore. 
  6. ↑ "Genomatix - NGS Data Analysis & Personalized Medicine". www.genomatix.de. https://www.genomatix.de/. 
  7. ↑ "AceView: Gene:FGF5andC4orf22, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView.". https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=c4orf22&submit=Go. 
  8. ↑ "ExPASy - ProtParam tool". https://web.expasy.org/protparam/. 
  9. ↑ "SAPS Results". https://www.ebi.ac.uk/Tools/services/web/toolresult.ebi?jobId=saps-I20190503-020950-0336-91921467-p2m. 
  10. ↑ "CFAP299 - Cilia- and flagella-associated protein 299 - Homo sapiens (Human) - CFAP299 gene & protein". https://www.uniprot.org/uniprot/Q6V702. 
  11. ↑ "NCBI Conserved Domain Search". https://www.ncbi.nlm.nih.gov/Structure/cdd/wrpsb.cgi?seqinput=NP_689983.2. 
  12. ↑ 12.0 12.1 12.2 "BLAST: Basic Local Alignment Search Tool". https://blast.ncbi.nlm.nih.gov/Blast.cgi. 
  13. ↑ "NPS@ : GOR4 secondary structure prediction". https://npsa-prabi.ibcp.fr/cgi-bin/npsa_automat.pl?page=npsa_gor4.html. 
  14. ↑ "I-TASSER server for protein structure and function prediction". https://zhanglab.ccmb.med.umich.edu/I-TASSER/. 
  15. ↑ "NetPhos 3.1 Server - prediction results". http://www.cbs.dtu.dk/cgi-bin/webface2.fcgi?jobid=5CCF30B0000005521E1FE094&wait=20. 
  16. ↑ "GPS-SUMO: Prediction of SUMOylation Sites & SUMO-interaction Motifs". http://sumosp.biocuckoo.org/showResult.php. 
  17. ↑ "PSORT II Prediction". https://psort.hgc.jp/form2.html. 
  18. ↑ "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry 286 (39): 34088–100. September 2011. doi:10.1074/jbc.m111.243907. PMID 21832049. 
  19. ↑ "Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity". Molecular & Cellular Proteomics 12 (10): 2804–19. October 2013. doi:10.1074/mcp.m112.025882. PMID 23824909. 
  20. ↑ "Success and failure in human spermatogenesis as revealed by teratozoospermic RNAs". Human Molecular Genetics 16 (7): 763–73. April 2007. doi:10.1093/hmg/ddm012. PMID 17327269. 
  21. ↑ "IL-13-induced airway mucus production is attenuated by MAPK13 inhibition". The Journal of Clinical Investigation 122 (12): 4555–68. December 2012. doi:10.1172/jci64896. PMID 23187130. 




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