| C19orf44 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C19orf44, chromosome 19 open reading frame 44, Chromosome 19 open reading frame 44 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1919504; HomoloGene: 12975; GeneCards: C19orf44; OMA: C19orf44 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. [5] 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, [6] but also has significant expression in the thyroid and parathyroid. [7] Other names for this protein include: LOC84167. [8]
Gene
The entire gene is 25,416 base pairs in length, [9] and has an unprocessed mRNA that is 3,446 nucleotides in length. [6] It contains 10 exons that code for a 657 amino acid protein. There are 7 splice variants that exist for C19orf44. [10]
Locus
C19orf44 is located on the nineteenth chromosome on 19p13.11. [6]
Protein
Primary Sequence
C19orf44 has a molecular weight of 71,343 Da, [11] and an isoelectric point of 5.52. [12] The amino acid sequence for C19orf44 was found to be serine rich using tools on EMBL-EBI. [13] Additionally, there is a domain of unknown function (DUF) located from amino acid 474 to 641. [14]
Post-translational modifications
C19orf44 has experimentally determined phosphorylation sites at the S114 and S213 positions. [14] Other predicted post-translational modifications were found using tools on ExPASy [15] 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.
Localization
C19orf44 is predicted to be localized in the nucleus or cytosol. [17]
Expression
C19orf44 is shown to be expressed at low levels in various tissues throughout the body as shown by NCBI's EST Profile. [18] It most highly expressed in the testis and ovary, [6] but also has significant expression in the thyroid and parathyroid. [7] C19orf44 is expressed in all stages of development, except for in infants. There is an increased expression of C19orf44 in a developing fetus. [18]
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 [19] 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. [20]
| Genus and Species | Common Name | Accession Number (from NCBI [21]) | Divergence (MYA) [22] | Sequence Identity (%) [23] |
|---|---|---|---|---|
| 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), [24] and spermatid associated protein (SPERT) [25] have been found.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000105072 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052794 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Chromosome 19 open reading frame 44". Retrieved 2018-05-06.
- ^ a b c d e "C19orf44 chromosome 19 open reading frame 44 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-05.
- ^ a b "Tissue expression of C19orf44 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-06.
- ^ Thierry-Mieg, Danielle; Thierry-Mieg, Jean. "AceView: Gene:C19orf44, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2018-02-05.
- ^ "Homo sapiens chromosome 19 open reading frame 44 (C19orf44), transcrip - Nucleotide - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-05.
- ^ "C19orf44 - Entry on Aceview". NCBI. Retrieved 2018-04-17.
- ^ a b "C19orf44 Gene". www.genecards.org. Retrieved 2018-02-17.
- ^ "ExPASy - Compute pI/Mw tool". web.expasy.org. Retrieved 2018-05-06.
- ^ "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2018-05-06.
- ^ a b "uncharacterized protein C19orf44 isoform 1 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-17.
- ^ "ExPASy: SIB Bioinformatics Resource Portal - Home". www.expasy.org. Retrieved 2018-05-06.
- ^ Liu W, Xie Y, Ma J, Luo X, Nie P, Zuo Z, Lahrmann U, Zhao Q, Zheng Y, Zhao Y, Xue Y, Ren J (October 2015). "IBS: an illustrator for the presentation and visualization of biological sequences". Bioinformatics. 31 (20): 3359–61. doi: 10.1093/bioinformatics/btv362. PMC 4595897. PMID 26069263.
- ^ Horton P, Nakai K (1997). "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. PMID 9322029.
- ^ a b "EST Profile - Hs.631627". www.ncbi.nlm.nih.gov. Retrieved 2018-05-06.
- ^ "Multiple Sequence Alignment - CLUSTALW". www.genome.jp. Retrieved 2018-05-06.
- ^ "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2018-05-06.
- ^ "National Center for Biotechnology Information". www.ncbi.nlm.nih.gov. Retrieved 2018-05-06.
- ^ "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved 2018-02-25.
- ^ "Multiple Sequence Alignment - CLUSTALW". www.genome.jp. Retrieved 2018-02-25.
- ^ Vinayagam A, Stelzl U, Foulle R, Plassmann S, Zenkner M, Timm J, Assmus HE, Andrade-Navarro MA, Wanker EE (September 2011). "A directed protein interaction network for investigating intracellular signal transduction". Science Signaling. 4 (189): rs8. doi: 10.1126/scisignal.2001699. PMID 21900206. S2CID 7418133.
- ^ Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, et al. (November 2014). "A proteome-scale map of the human interactome network". Cell. 159 (5): 1212–1226. doi: 10.1016/j.cell.2014.10.050. PMC 4266588. PMID 25416956.