C17orf50

Last updated
C17orf50
Identifiers
Aliases C17orf50 , chromosome 17 open reading frame 50
External IDs MGI: 1913580 HomoloGene: 11949 GeneCards: C17orf50
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_145272

NM_025492

RefSeq (protein)

NP_660315

NP_079768

Location (UCSC) Chr 17: 35.76 – 35.77 Mb Chr 11: 83.33 – 83.33 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

Gene

The gene is located on the long arm of chromosome 17 on the forward strand [5] 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 [6] and has three exons. [7]

Regulation of transcription

The promoter region for C17orf50 is 1417 base pairs long with an accession number of GXP_123003 from Genomatix. [8] The first half of the promoter is poorly conserved even among primates. [9] [10] [11]

There are many binding sites for transcription factors found in the brain and embryonic tissue, [8] 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. [12]

Annotated promoter sequence of C17orf50 showing possible transcription factor binding sites and conserved regions 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. [9] 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.

SpeciesAccession numberDivergence from humans (MYA) [13] Identity
Homo sapiens NP_6603150100%
Chlorocebus sabaeus XP_00800926729.4485%
Mus musculus NP_079768.29068%
Pteropus vampyrus XP_01138555817170%
Chelonia mydas EMP2888831245%
Corvus brachyrhynchos XP_01758432131244%
Anolis carolinensis XP_00321835331237%
Xenopus tropicalis OCA3556035246%

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. [14]

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. [15] There are three nuclear localization signals with no other retention signals, strongly indicating that the protein is localized to the nucleus. [16]

Possible structure of Uncharacterized Protein C17orf50.jpg

Domains

Uncharacterized protein C17orf50 contains a domain of unknown function (DUF4673) from position 5 to 172, which makes up the majority of the protein. [7]

Post-translational modifications

Uncharacterized protein C17orf50 contains two potential sumoylation sites at K7 and K12. [17] [18] There are possible threonine and serine glycosylation sites throughout the protein. [19] Potential threonine, serine, and tyrosine phosphorylation sites are also present. [20]

Annotated conceptual translation C17orf50 Annotated conceptual translation C17orf50.pdf
Annotated conceptual translation C17orf50

Interacting proteins

Uncharacterized protein C17orf50 has potential interactions with zinc finger protein 587(ZNF587), [21] [22] which is expressed throughout fetal tissue, including the brain, [23] ZNF587 is expected to regulate transcription. [24]

Related Research Articles

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

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<span class="mw-page-title-main">C16orf86</span>

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<span class="mw-page-title-main">C16orf90</span>

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<span class="mw-page-title-main">C1orf94</span> Protein-coding gene in the species Homo sapiens

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

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References

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  7. 1 2 "C17orf50 chromosome 17 open reading frame 50 [Homo sapiens (human) ]". NCBI. US National Library of Medicine. Retrieved 25 January 2018.
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