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C19orf44

From Wikipedia, the free encyclopedia
C19orf44
Identifiers
AliasesC19orf44, chromosome 19 open reading frame 44, Chromosome 19 open reading frame 44
External IDsMGI: 1919504; HomoloGene: 12975; GeneCards: C19orf44; OMA:C19orf44 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

84167

72254

Ensembl

ENSG00000105072

ENSMUSG00000052794

UniProt

Q9H6X5

Q922C1

RefSeq (mRNA)

NM_001288834
NM_032207

NM_028170

RefSeq (protein)

NP_001275763
NP_115583

NP_082446

Location (UCSC)Chr 19: 16.5 – 16.52 MbChr 8: 73.2 – 73.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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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

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C19orf44 is located on the nineteenth chromosome on 19p13.11.[6]

Position of C19orf44 on chromosome 19. Image taken from GeneCards.[11]

Protein

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Primary Sequence

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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

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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.

Cartoon image illustrating the C19orf44 protein and its predicted features. Image created using the DOG software from The CUCKOO WorkGroup.[16]

Localization

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C19orf44 is predicted to be localized in the nucleus or cytosol.[17]

Expression

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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

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Orthologs

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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]

C19orf44 Significant Orthologs[6]
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

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There are no paralogs for C19orf44 in Homo sapiens.

Interacting Proteins

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105072 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052794 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Chromosome 19 open reading frame 44". Retrieved 2018-05-06.
  6. ^ 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.
  7. ^ a b "Tissue expression of C19orf44 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-06.
  8. ^ 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.
  9. ^ "Homo sapiens chromosome 19 open reading frame 44 (C19orf44), transcrip - Nucleotide - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-05.
  10. ^ "C19orf44 - Entry on Aceview". NCBI. Retrieved 2018-04-17.
  11. ^ a b "C19orf44 Gene". www.genecards.org. Retrieved 2018-02-17.
  12. ^ "ExPASy - Compute pI/Mw tool". web.expasy.org. Retrieved 2018-05-06.
  13. ^ "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2018-05-06.
  14. ^ a b "uncharacterized protein C19orf44 isoform 1 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-17.
  15. ^ "ExPASy: SIB Bioinformatics Resource Portal - Home". www.expasy.org. Retrieved 2018-05-06.
  16. ^ 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.
  17. ^ 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.
  18. ^ a b "EST Profile - Hs.631627". www.ncbi.nlm.nih.gov. Retrieved 2018-05-06.
  19. ^ "Multiple Sequence Alignment - CLUSTALW". www.genome.jp. Retrieved 2018-05-06.
  20. ^ "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2018-05-06.
  21. ^ "National Center for Biotechnology Information". www.ncbi.nlm.nih.gov. Retrieved 2018-05-06.
  22. ^ "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved 2018-02-25.
  23. ^ "Multiple Sequence Alignment - CLUSTALW". www.genome.jp. Retrieved 2018-02-25.
  24. ^ 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.
  25. ^ 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.
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