Biology:C19orf44

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Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. [1] C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein (and gene) exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary,[2] but also has significant expression in the thyroid and parathyroid.[3] Other names for this protein include: LOC84167.[4]

Gene

The entire gene is 25,416 base pairs in length,[5] and has an unprocessed mRNA that is 3,446 nucleotides in length.[2] It contains 10 exons that code for a 657 amino acid protein. There are 7 splice variants that exist for C19orf44.[6]

Locus

C19orf44 is located on the nineteenth chromosome on 19p13.11.[2]

Position of C19orf44 on chromosome 19. Image taken from GeneCards.[7]

Protein

Primary Sequence

C19orf44 has a molecular weight of 71,343 Da,[7] and an isoelectric point of 5.52.[8] The amino acid sequence for C19orf44 was found to be serine rich using tools on EMBL-EBI.[9] Additionally, there is a domain of unknown function (DUF) located from amino acid 474 to 641.[10]

Post-translational modifications

C19orf44 has experimentally determined phosphorylation sites at the S114 and S213 positions.[10] Other predicted post-translational modifications were found using tools on ExPASy[11] and are shown in the protein illustration below. N-terminal acetylation is predicted at S3. There is also a predicted sumoylation motif from amino acid 212 to 221.

Cartoon image illustrating the C19orf44 protein and its predicted features. Image created using the DOG software from The CUCKOO WorkGroup.[12]

Localization

C19orf44 is predicted to be localized in the nucleus or cytosol.[13]

Expression

C19orf44 is shown to be expressed at low levels in various tissues throughout the body as shown by NCBI's EST Profile.[14] It most highly expressed in the testis and ovary,[2] but also has significant expression in the thyroid and parathyroid.[3] C19orf44 is expressed in all stages of development, except for in infants. There is an increased expression of C19orf44 in a developing fetus.[14]

Homology and Evolution

Orthologs

Orthologs of C19orf44 have been found in most mammals and a select few other vertebrates and invertebrates. Multiple sequence alignments using ClustalW[15] provided evidence that the DUF in C19orf44 is highly conserved in its orthologs. The table below represents a small selection of the orthologs found using NCBI Blast.[16]

C19orf44 Significant Orthologs[2]
Genus and Species Common Name Accession Number (from NCBI[17]) Divergence (MYA)[18] Sequence Identity (%)[19]
Rhinopithecus roxellana Golden Snub-nosed Monkey XP_010359783.1 29 86.9
Orcinus orca Killer Whale XP_004277754.1 96 83.2
Sus scrofa Wild Boar XP_005661251.2 96 60.1
Monodelphis domestica Opossum XP_007489796.1 159 45.5
Chelonia mydas Green Sea Turtle XP_007072179.1 312 35.2
Astyanax mexicanus Mexican Tetra XP_007246256.2 435 28.2
Mizuhopecten yessoensis Scallop XP_021343742.1 797 24.4

Paralogs

There are no paralogs for C19orf44 in Homo sapiens.

Interacting Proteins

C19orf44 has been found to interact with various proteins from the two-hybrid screening method. Interactions with Hsp90 co-chaperone (CDC37),[20] and spermatid associated protein (SPERT)[21] have been found.

References

  1. ↑ "Entrez Gene: Chromosome 19 open reading frame 44". https://www.ncbi.nlm.nih.gov/gene/84167. 
  2. ↑ 2.0 2.1 2.2 2.3 2.4 "C19orf44 chromosome 19 open reading frame 44 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/84167. 
  3. ↑ 3.0 3.1 "Tissue expression of C19orf44 - Summary - The Human Protein Atlas". https://www.proteinatlas.org/ENSG00000105072-C19orf44/tissue. 
  4. ↑ mieg@ncbi.nlm.nih.gov, Danielle Thierry-Mieg and Jean Thierry-Mieg, NCBI/NLM/NIH. "AceView: Gene:C19orf44, 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=C19orf44&submit=Go. 
  5. ↑ "Homo sapiens chromosome 19 open reading frame 44 (C19orf44), transcrip - Nucleotide - NCBI". https://www.ncbi.nlm.nih.gov/nuccore/NM_032207.3. 
  6. ↑ "C19orf44 - Entry on Aceview" (in en). https://www.ncbi.nlm.nih.gov/ieb/research/acembly/av.cgi?db=human&term=C19orf44&submit=Go. 
  7. ↑ 7.0 7.1 Database, GeneCards Human Gene. "C19orf44 Gene - GeneCards | CS044 Protein | CS044 Antibody". https://www.genecards.org/cgi-bin/carddisp.pl?gene=C19orf44. 
  8. ↑ "ExPASy - Compute pI/Mw tool" (in en-US). https://web.expasy.org/compute_pi/. 
  9. ↑ EMBL-EBI. "SAPS < Sequence Statistics < EMBL-EBI" (in en). https://www.ebi.ac.uk/Tools/seqstats/saps/. 
  10. ↑ 10.0 10.1 "uncharacterized protein C19orf44 isoform 1 [Homo sapiens - Protein - NCBI"]. https://www.ncbi.nlm.nih.gov/protein/NP_115583.1. 
  11. ↑ "ExPASy: SIB Bioinformatics Resource Portal - Home" (in en-US). https://www.expasy.org/. 
  12. ↑ "IBS: an illustrator for the presentation and visualization of biological sequences". Bioinformatics 31 (20): 3359–61. October 2015. doi:10.1093/bioinformatics/btv362. PMID 26069263. 
  13. ↑ "Better prediction of protein cellular localization sites with the k nearest neighbors classifier". Proceedings. International Conference on Intelligent Systems for Molecular Biology 5: 147–52. 1997. PMID 9322029. 
  14. ↑ 14.0 14.1 Group, Schuler. "EST Profile - Hs.631627". https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.631627. 
  15. ↑ "Multiple Sequence Alignment - CLUSTALW". http://www.genome.jp/tools-bin/clustalw. 
  16. ↑ "BLAST: Basic Local Alignment Search Tool". https://blast.ncbi.nlm.nih.gov/Blast.cgi. 
  17. ↑ "National Center for Biotechnology Information" (in en). https://www.ncbi.nlm.nih.gov/. 
  18. ↑ "TimeTree :: The Timescale of Life". http://www.timetree.org/. 
  19. ↑ "Multiple Sequence Alignment - CLUSTALW". http://www.genome.jp/tools-bin/clustalw. 
  20. ↑ "A directed protein interaction network for investigating intracellular signal transduction". Science Signaling 4 (189): rs8. September 2011. doi:10.1126/scisignal.2001699. PMID 21900206. 
  21. ↑ "A proteome-scale map of the human interactome network". Cell 159 (5): 1212–1226. November 2014. doi:10.1016/j.cell.2014.10.050. PMID 25416956. 




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