C19orf44

Last updated
C19orf44
Identifiers
Aliases C19orf44 , chromosome 19 open reading frame 44, Chromosome 19 open reading frame 44
External IDs MGI: 1919504 HomoloGene: 12975 GeneCards: C19orf44
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 Mb Chr 8: 73.2 – 73.21 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

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]

Position of C19orf44 on chromosome 19. Image taken from GeneCards. Position of C19orf44 on chromosome 19.png
Position of C19orf44 on chromosome 19. Image taken from GeneCards.

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.

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

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]

C19orf44 Significant Orthologs [6]
Genus and SpeciesCommon NameAccession Number (from NCBI [21] )Divergence (MYA) [22] Sequence Identity (%) [23]
Rhinopithecus roxellanaGolden Snub-nosed MonkeyXP_010359783.12986.9
Orcinus orcaKiller WhaleXP_004277754.19683.2
Sus scrofaWild BoarXP_005661251.29660.1
Monodelphis domesticaOpossumXP_007489796.115945.5
Chelonia mydasGreen Sea TurtleXP_007072179.131235.2
Astyanax mexicanusMexican TetraXP_007246256.243528.2
Mizuhopecten yessoensisScallopXP_021343742.179724.4

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.

Related Research Articles

<span class="mw-page-title-main">C9orf64</span> Protein-coding gene in the species Homo sapiens

C9orf64 is a gene located on chromosome 9, that in humans encodes the protein queuosine salvage protein. The function and biological process of the queuosine salvage protein is not well understood by the scientific community, but some evidence from orthologs indicates it may be involved in tRNA processing. The most common mRNA contains 4 coding exons, and it has 2 additional alternatively spliced exons. C9orf64 has been found in 5 different splice variants.

<span class="mw-page-title-main">PRR29</span> Protein-coding gene in the species Homo sapiens

PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.

<span class="mw-page-title-main">C6orf62</span>

Chromosome 6 open reading frame 62 (C6orf62), also known as X-trans-activated protein 12 (XTP12), is a gene that encodes a protein of the same name. The encoded protein is predicted to have a subcellular location within the cytosol.

<span class="mw-page-title-main">C17orf53</span>

C17orf53 is a gene in humans that encodes a protein known as C17orf53, uncharacterized protein C17orf53. It has been shown to target the nucleus, with minor localization in the cytoplasm. Based on current findings C17orf53 is predicted to perform functions of transport, however further research into the protein could provide more specific evidence regarding its function.

<span class="mw-page-title-main">C21orf58</span> Protein-coding gene in the species Homo sapiens

Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.

<span class="mw-page-title-main">C16orf46</span> Human gene

Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.

<span class="mw-page-title-main">C9orf25</span> Protein-coding gene in the species Homo sapiens

Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.

<span class="mw-page-title-main">C4orf51</span> Protein-coding gene in the species Homo sapiens

Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.

<span class="mw-page-title-main">C16orf86</span> Protein-coding gene in the species Homo sapiens

Uncharacterized protein C16orf86 is a protein in humans that is encoded by the C16orf86 gene. It is mostly made of alpha helices and it is expressed in the testes, but also in other tissues such as the kidney, colon, brain, fat, spleen, and liver. For the function of C16orf86, it is not well understood, however it could be a transcription factor in the nucleus that regulates G0/G1 in the cell cycle for tissues such as the kidney, brain, and skeletal muscles as mentioned in the DNA microarray data below in the gene level regulation section.

<span class="mw-page-title-main">C9orf50</span> Protein-coding gene in the species Homo sapiens

Chromosome 9 open reading frame 50 is a protein that in humans is encoded by the C9orf50 gene. C9orf50 has one other known alias, FLJ35803. In humans the gene coding sequence is 10,051 base pairs long, transcribing an mRNA of 1,624 bases that encodes a 431 amino acid protein.

Chromosome 1 open reading frame (C1orf167) is a protein which in humans is encoded by the C1orf167 gene. The NCBI accession number is NP_001010881. The protein is 1468 amino acids in length with a molecular weight of 162.42 kDa. The mRNA sequence was found to be 4689 base pairs in length.

<span class="mw-page-title-main">SMCO3</span>

Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene.

<span class="mw-page-title-main">C20orf202</span>

C20orf202 is a protein that in humans is encoded by the C20orf202 gene. In humans, this gene encodes for a nuclear protein that is primarily expressed in the lung and placenta.

<span class="mw-page-title-main">C17orf78</span> Mammalian protein found in Homo sapiens

Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.

<span class="mw-page-title-main">LSMEM2</span>

Leucine rich single-pass membrane protein 2 is a single-pass membrane protein rich in leucine, that in humans is encoded by the LSMEM2 gene. The LSMEM2 protein is conserved in mammals, birds, and reptiles. In humans, LSMEM2 is found to be highly expressed in the heart, skeletal muscle and tongue.

<span class="mw-page-title-main">C14orf180</span> Protein-coding gene in the species Homo sapiens

C14orf180 is found on chromosome 14 in humans: 14q32.33. It consists of 1832 bp and 160 amino acids post translation. There is a total number of 6 exons. C14orf180 is also known as NRAC, C14orf77, and Chromosome 14 Open Reading Frame 180.

<span class="mw-page-title-main">FAM166C</span>

Family with Sequence Similarity 166, member C (FAM166C), is a protein encoded by the FAM166C gene. The protein FAM166C is localized in the nucleus. It has a calculated molecular weight of 23.29 kDa. It also contains DUF2475, a protein of unknown function from amino acid 19–85. The FAM166C protein is nominally expressed in the testis, stomach, and thyroid.

<span class="mw-page-title-main">C3orf38</span> An article about the uncharacterized gene C3orf38.

Chromosome 3 open reading frame 38 (C3orf38) is a protein which in humans is encoded by the C3orf38 gene.

<span class="mw-page-title-main">C4orf19</span> Human C4orf19 gene

C4orf19 is a protein which in humans is encoded by the C4orf19 gene.

<span class="mw-page-title-main">C12orf54</span>

C12orf54 is a protein in humans that is encoded by the C12orf54 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000105072 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 3 4 5 "C19orf44 chromosome 19 open reading frame 44 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-05.
  7. 1 2 "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. 1 2 "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. 1 2 "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. 1 2 "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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