C17orf78

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Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. [1] 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. [2] The function of C17orf78 is not well defined.

Contents

C17orf78
Identifiers
Aliases C17orf78 , chromosome 17 open reading frame 78
External IDs MGI: 3650287; HomoloGene: 82346; GeneCards: C17orf78; OMA:C17orf78 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

284099

628813

Ensembl

ENSG00000278505
ENSG00000278145

ENSMUSG00000051452

UniProt

Q8N4C9

Q5QR91

RefSeq (mRNA)

NM_173625
NM_001321399

NM_001037932

RefSeq (protein)

NP_001308328
NP_775896

NP_001033021

Location (UCSC) Chr 17: 37.38 – 37.39 Mb Chr 11: 84.04 – 84.06 Mb
PubMed search [5] [6]
Wikidata
View/Edit Human View/Edit Mouse

Gene

Location

C17orf78 (Chromosome 17 Open Reading Frame 78) is found on the long arm cytogenetic band 17q12. [7] The genomic sequence spans from base pair position 37,375,985 to 37,392,708 on the forward strand, and constitutes a length of 16,723 base pairs. [8] The neighboring genes include TADA2A, DUSP14, and ACACA. [9]

Exons and Introns

C17orf78 has 7 exon regions within its encoding area. [1] C17orf78 also has a total of 6 intron regions spanning its sequence. [10] [7]

Transcripts

C17orf78 has two splice variant isoforms. [11] Isoform 1 is encoded by a mRNA sequence that is 1920 base pairs in length. [12] Isoform 2 derives from a mRNA sequence of 1678 base pairs. [13]

Protein

The primary sequence of C17orf78 has been predicted to be 30.55kDa, with an isoelectric point of 9.62. [14]

Uncharacterized protein C17orf78 isoform 1 (C17orf78-204) has a span of 275 amino acids, including all 7 exons. [15] [16] C17orf78 isoform 1 is the principle protein.

Uncharacterized protein C17orf78 isoform 2 (C17orf78-203) has a span of 159 amino acids, constituted from 5 exon regions, which include the 1st, 2nd, 3rd, 6th, and 7th exons of the principle protein. [17] [16]

Expression

C17orf78 has high expression in the human small intestine, particularly the duodenum [2] [18] and has been detected in small expression levels in the testes and other tissues. [19] Fetal expression lowers in all tissues over time with development except for the intestines, which shows increasing expression over time. [20] [2]

Subcellular Location

Predictive analysis of C17orf78 by Psort2 [21] places the primary location in the nucleus because of a nuclear localization signal. C17orf78 is also potentially a transmembrane protein due to the presence of a transmembrane region. [22] [12]

Structure

Protein

C17orf78 secondary structure has been predicted to have several alpha helices and strands as well as beta sheets. [23] [24]

Regulation

DNA Promoter

The Genomatix [25] tool Gene2Promoter found one viable promoter region. The region was found to span from base pairs 37374332 to 37376025.

mRNA

The mRNA secondary structure for C17orf78 was found by the online tool RNAfold [26] show a moderate affinity for stem-loop (hairpin) structures.

Post Translational Modification

Phosphorylation is predicted to occur at a number of sites on C17orf78. [27] PKC-phosphorylation and CK2 phosphorylation are predicted to have various sites on C17orf78 with high confidence. [28]

N-linked glycosylation is predicted to occur at three locations on C17orf78. [28] Asparagine linked glycosylation was predicted to occur on C17orf78 orthologs with high confidence.

Myristolyation has been predicted to occur on C17orf78 by the ExPASy tool Motif Scan. [28]

Homology & Evolution

The evolution rate for c17orf78 compared to fibrinogen alpha and cytochrome c Evolution graph C17orf78.jpg
The evolution rate for c17orf78 compared to fibrinogen alpha and cytochrome c

C17orf78 orthologs have been identified in mammals, birds, and reptiles. [1] It is a rapidly evolving gene, with around 40 base pairs mutating every 100 million years. [1] There are no known paralogs of this gene in humans. [29]

Scientific NameCommon NameTaxonomic GroupDate of Divergence (MYA)Accession NumberProtein Length (aa)Identity (%)Similarity (%)
Homo sapiens Human Primates 0NP_775896.3275100100
Mus musculus Mouse Rodentia 89NP_001033021.229059.772.0
Sus scrofa Wild Boar Artiodactyla 94XP_013845397.228769.780.8
Ovis aries Sheep Artiodactyla 94XP_027831111.128068.379.4
Eptesicus fuscus Big Brown Bat Chiroptera 94XP_028013352.128766.774.7
Mustela erminea Stoat Carnivora 94XP_032175349.130058.867.7
Orycteropus afer afer Aardvark Tubulidentata 102XP_007946081.128671.280.9
Loxodonta africana African Bush Elephant Proboscidea 102XP_003414613.128267.677.8
Elephantulus edwardii Cape Elephant Shrew Macroscelidea 102XP_006881725.131257.667.5
Phascolarctos cinereus Koala Diprotodontia 160XP_020847101.128653.366.2
Vombatus ursinus Common Wombat Diprotodontia 160XP_027726443.124545.659.8
Trachemys scripta elegans Red-Eared Slider Turtle Testudines 318XP_034608235.125731.646.2
Apertyx rowi Okarito Kiwi Apterygiformes 318XP_025937346.127031.350.2
Chelonia mydas Green Sea Turtle Testudines 318XP_027675993.127028.939.7
Terrapene carolina triunguis Three-Toed Box Turtle Testudines 318XP_029768387.129928.441.0
Pelodiscus sinensis Chinese Softshell Turtle Testudines 318XP_025035086.125828.240.8
Melopsittacus undulatus Budgerigar Psittaciformes 318XP_012985804.225526.741.1
Oxyura jamaicensis Ruddy Duck Anseriformes 318XP_035199171.127025.841.2
Chelonoidis abingdonii Pinta Island Tortoise Testudines 318XP_032635246.126224.236.3
Anas platyrhynchos Mallard Anseriformes 318XP_021123240.123223.334.3

C17orf78 mRNA & DNA.pdf

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References

  1. 1 2 3 4 "C17orf78 chromosome 17 open reading frame 78 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-04-30.
  2. 1 2 3 "C17orf78 Gene Expression - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-05-05.
  3. 1 2 3 ENSG00000278145 GRCh38: Ensembl release 89: ENSG00000278505, ENSG00000278145 – Ensembl, May 2017
  4. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051452 – Ensembl, May 2017
  5. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  6. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  7. 1 2 "Gene: C17orf78 (ENSG00000278505) - Summary - Homo sapiens - Ensembl genome browser 100". uswest.ensembl.org. Retrieved 2020-05-05.[ permanent dead link ]
  8. ↑ "Symbol report for C17orf78". Hugo Gene Nomenclature Committee. Archived from the original on 2018-11-17.
  9. ↑ "AceView: Gene:C17orf78, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2020-12-18.
  10. ↑ "Human hg38 chr17:37,375,985-37,392,708 UCSC Genome Browser v397". genome.ucsc.edu. Retrieved 2020-05-05.
  11. ↑ "Gene: C17orf78 (ENSG00000278505) - Summary - Homo sapiens - Ensembl genome browser 100". useast.ensembl.org. Retrieved 2020-04-30.
  12. 1 2 "Homo sapiens chromosome 17 open reading frame 78 (C17orf78), transcript variant 1, mRNA". 2020-04-25.{{cite journal}}: Cite journal requires |journal= (help)
  13. ↑ "Homo sapiens chromosome 17 open reading frame 78 (C17orf78), transcript variant 2, mRNA". 2019-06-01.{{cite journal}}: Cite journal requires |journal= (help)
  14. ↑ "ExPasy Compute pI/Mw". ExPasy. 2020-05-05.[ permanent dead link ]
  15. ↑ "uncharacterized protein C17orf78 isoform 1 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-05-05.
  16. 1 2 "Gene: C17orf78 (ENSG00000278505) - Splice variants - Homo sapiens - Ensembl genome browser 100". uswest.ensembl.org. Retrieved 2020-05-05.[ permanent dead link ]
  17. ↑ "uncharacterized protein C17orf78 isoform 2 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-05-05.
  18. ↑ "Tissue expression of C17orf78 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2020-05-19.
  19. ↑ "C17orf78 Gene Expression - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-05-19.
  20. ↑ Szabo, Linda; Morey, Robert; Palpant, Nathan J.; Wang, Peter L.; Afari, Nastaran; Jiang, Chuan; Parast, Mana M.; Murry, Charles E.; Laurent, Louise C.; Salzman, Julia (2015-06-16). "Statistically based splicing detection reveals neural enrichment and tissue-specific induction of circular RNA during human fetal development". Genome Biology. 16 (1): 126. doi: 10.1186/s13059-015-0690-5 . ISSN   1474-760X. PMC   4506483 . PMID   26076956.
  21. ↑ "PSORT II server". www.genscript.com. Archived from the original on 2021-07-09. Retrieved 2020-05-19.
  22. ↑ "SOSUI: Result". harrier.nagahama-i-bio.ac.jp. Retrieved 2020-05-22.
  23. ↑ "I-TASSER server for protein structure and function prediction". zhanglab.ccmb.med.umich.edu. Retrieved 2020-05-21.
  24. ↑ "Bioinformatics Toolkit". toolkit.tuebingen.mpg.de. Retrieved 2020-12-18.
  25. ↑ "Genomatix - NGS Data Analysis & Personalized Medicine". www.genomatix.de. Archived from the original on 2001-02-24. Retrieved 2020-05-21.
  26. ↑ "RNAfold web server". rna.tbi.univie.ac.at. Retrieved 2020-05-21.
  27. ↑ "NetPhos 3.1 Server - prediction results". www.cbs.dtu.dk. Retrieved 2020-05-21.
  28. 1 2 3 "Motif Scan". myhits.sib.swiss. Retrieved 2020-05-21.
  29. ↑ "Human BLAT Search". genome.ucsc.edu. Retrieved 2020-12-18.
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