C17orf50

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Uncharacterized protein C17orf50 is a protein which in humans is encoded by the C17orf50 gene.


C17orf50
Identifiers
Symbol [1]
External IDs GeneCards: Gene
Orthologs
Species Human Mouse
Entrez 146853 n/a
Ensembl ENSG00000154768 n/a
UniProt Q8WW18 n/a
RefSeq (mRNA) NM_145272 n/a
RefSeq (protein) NP_660315 n/a
Location (UCSC) n/a n/a
PubMed search [2] n/a

Gene

The gene is located on the long arm of chromosome 17 on the forward strand[1] at position 17q12. C17orf50 spans 4,200 base pairs from 35,760,897 to 35,765,079. In Humans, this gene encodes a protein that is 174 amino acids in length[2] and has three exons.[3]

Regulation of Transcription

The promoter region for C17orf50 is 1417 base pairs longwith an accession number of GXP_123003 from Genomatix.[4] The first half of the promoter is poorly conserved even among primates.[5][6][7]

There are many binding sites for transcription factors found in the brain and embryonic tissue.[4] particularly Brn-5 POU domain factor, which has three binding sites within the conserved region of the promoter. This transcription factor is expressed in layer IV of the neocortex of adults and at its highest levels in the developing brain and spinal cord.[8]

File:C17orf50 promoter sequence.pdf
Annotated promoter sequence of C17orf50 showing possible transcription factor binding sites and conserved regions

Homology/Evolution

Orthologs of this gene exist in Eukaryotes, predominantly in mammals.[5] However, some homologs are present in birds, reptiles, and amphibians. There are no paralogs of this gene. The table below shows a short list of orthologs to trace the evolutionary history of C17orf50.

Species Accession Number Divergence from humans (MYA)[9] Identity
Homo sapiens NP_660315 0 100%
Chlorocebus sabaeus XP_008009267 29.44 85%
Mus musculus NP_079768.2 90 68%
Pteropus vampyrus XP_011385558 171 70%
Chelonia Mydas EMP28888 312 45%
Corvus brachyrhynchos XP_017584321 312 44%
Anolis carolinensis XP_003218353 312 37%
Xenopus tropicalis OCA35560 352 46%

The most distant ortholog found diverged from humans approximately 352 million years ago, indicating that the protein arose shortly before that. When compared to other proteins, namely cytochrome c and fibrinogen alpha chain, uncharacterized protein C17orf50 is a rapidly evolving protein.

Expression

C17orf50 is expressed at low levels in various tissues, such as lung, prostate, thymus, thyroid, trachea, small intestine, and stomach, and it is most highly expressed in the fetal brain.[10]

Protein

The unmodified molecular weight of C17orf50 protein is 19.3 kilodaltons. The protein has a negative charge cluster from position 21 to 52; this is a glutamate-rich region.[11] There are 3 nuclear localization signals with no other retention signals, strongly indicating that the protein is localized to the nucleus.[12]

Possible structure of Uncharacterized Protein C17orf50

Domains

Uncharacterized protein C17orf50 contains a domain of unknown function (DUF4673) from position 5 to 172, which makes up the majority of the protein.[3]

Post-Translational Modifications

Uncharacterized protein C17orf50 contains two potential sumoylation sites at K7 and K12.[13][14] There are possible threonine and serine glycosylation sites throughout the protein.[15] Potential threonine, serine, and tyrosine phosphorylation sites are also present.[16]

File:Annotated conceptual translation C17orf50.pdf
Annotated conceptual translation C17orf50

Interacting Proteins

Uncharacterized protein C17orf50 has potential interactions with zinc finger protein 587(ZNF587),[17][18] which is expressed throughout fetal tissue, including the brain,[19] ZNF587 is expected to regulate transcription.[20]

References

  1. ↑ "Gene: C17orf50 ENSG00000270806". Ensembl. EMBL-EBI. Retrieved 6 May 2018.
  2. ↑ "uncharacterized protein C17orf50 [Homo sapiens]". NCBI. US National Library of Medicine. Retrieved 25 January 2018.
  3. ↑ 3.0 3.1 "C17orf50 chromosome 17 open reading frame 50 [ Homo sapiens (human) ]". NCBI. US National Library of Medicine. Retrieved 25 January 2018.
  4. ↑ 4.0 4.1 "GXP_123003". Genomatix. Retrieved 26 March 2018.
  5. ↑ 5.0 5.1 "NCBI". US National Library of Medicine. Retrieved 19 February 2018.
  6. ↑ "Multiple Sequence Alignment". ClustalW. Kyoto University Bioinformatics Center. Retrieved 28 March 2018.
  7. ↑ "BoxShade Server". ExPASy. Swiss Institute of Bioinformatics. Retrieved 28 March 2018.
  8. ↑ Anderson (November 5, 1993). "Brn-5 is a divergent POU domain factor highly expressed in layer IV of the neocortex". The Journal of Biological Chemistry. 268 (31): 23390–23398. PMID 7901208. Retrieved 3 May 2018.
  9. ↑ "TimeTree". The Timescale of Life. Institute for Genomics and Evolutionary Medicine. Retrieved 22 February 2018.
  10. ↑ "Chromosome 17 open reading frame 50". UniGene. NCBI. Retrieved 28 March 2018.
  11. ↑ "Results for job saps-I20180327-142242-0812-44488260-p1m". EMBL-EBI. European Molecular Biology Laboratory. Retrieved 17 April 2018.
  12. ↑ "PSORTII". PSORTII. Retrieved 17 April 2018.
  13. ↑ "SUMOplot Analysis Program". Abgent. WuXi AppTec. Retrieved 17 April 2018.
  14. ↑ "GPS-SUMO Online Service". GPS. The Cuckoo Workgroup. Retrieved 17 April 2018.
  15. ↑ "NetOGlyc 4.0 Server". DTU Bioinformatics. Department of Bio and Health Informatics. Retrieved 3 April 2018.
  16. ↑ "NetPhos 3.1 Server". DTU Bioinformatics. Department of Health and Bioinformatics. Retrieved 3 April 2018.
  17. ↑ "IntAct". EMBL-EBI. European Molecular Biology Laboratory. Retrieved 19 April 2018.
  18. ↑ "Uniprot". UniProt. UniProt Consortium. Retrieved 19 April 2018.
  19. ↑ "ensg00000198466 (ZNF587) Homo sapiens zinc finger protein 587". Expression Atlas. EMBL-EBI. Retrieved 25 April 2018.
  20. ↑ "UniProtKB - Q96SQ5 (ZN587_HUMAN)". UniProt. UniProt Consortium. Retrieved 25 April 2018.
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