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C2orf73

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C2orf73
Identifiers
AliasesC2orf73, chromosome 2 open reading frame 73
External IDsMGI: 1922337; HomoloGene: 18988; GeneCards: C2orf73; OMA:C2orf73 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

129852

75087

Ensembl

ENSG00000177994

ENSMUSG00000040919

UniProt

Q8N5S3

Q5SPV6

RefSeq (mRNA)

NM_001100396
NM_173486
NM_001369401
NM_001369403

NM_001100394

RefSeq (protein)

NP_001093866
NP_001356330
NP_001356332

NP_001093864

Location (UCSC)Chr 2: 54.33 – 54.38 MbChr 11: 30.38 – 30.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Uncharacterized protein C2orf73 is a protein that in humans is encoded by the C2orf73 gene. The protein is predicted to be localized to the nucleus.

Gene

The full gene spans a total of 53,712 base pairs and contains nine exons. The gene's location in the Human genome is on chromosome 2 at position 2p16.2 and is flanked by the genes ACYP2 and SPTBN1.[5] There are no aliases for this gene.

mRNA

The primary mRNA produced by the C2or73 gene is 1921 nucleotides long. There are six other mRNA isoforms produced by alternative splicing and variation in exon length.[6]

Isoform Exons mRNA Length (bases)
Primary 2, 3, 5, 6, 7 1921
X1 2, 3, 5, 6, 7 (truncated), 8, 9 1726
X2 2, 3 (truncated), 5, 6, 7 (truncated) 971
X3 2 (truncated), 5, 6, 7 (truncated) 868
X4 4, 5, 6, 7 (truncated) 951
X5 1, 5, 6, 7 (truncated) 1049
X6 2, 3, 5, 7 (truncated) 1034

Protein

The protein has a molecular mass of 32,142 Daltons.[7] There are four protein isoforms. The primary isoform (X1) is 287 amino acids long.[8]

C2orf73 contains a short sequence motif, GDWWSH (This motif does not yet have any known function). The protein is lysine rich and leucine poor compared to the content of the average Human gene and has a predicted isoelectric point of 9.305.[9]

Isoform From mRNA Isoform Length (Amino Acids) Molecular Weight (kDa) Isoelectric Point
X1 Primary, X1 287 32.1 9.305
X2 X2 229 25.4 9.120
X3 X3, X4, X5 166 18.1 9.703
X4 X6 143 16.7 8.790

Structure

A 3D structure for C2orf73 has not yet been determined experimentally. A computational prediction made by I-TASSER is presented to the right.[10]

Predicted 3D structure of Human C2orf73 protein generated by I-TASSER.[11][12][13]

The PELE tool on Biology Workbench predicts three likely α-helices and one β-strand in the protein.[14]

Post translational modifications

The GPS, NetPhos, MyHits and SUMOsp tools on ExPASy[15] predict potential post-translational modifications for the protein. Six potential phosphorylation sites and one sumoylation site are predicted.

Subcellular localization

PSORT II predicts C2orf73 to be localized to the nucleus.[16] This is supported by the predicted presence of a sumoylation site, which is involved in nuclear cytoplasmic transport.[17]

Expression

GEO profiles from NCBI show that C2orf73 is weakly expressed in the following tissues in Humans: bone marrow, liver, heart, lung, brain, spinal cord, skeletal muscle, thymus, and epithelium.[18]

Regulation of expression

The Genomatix El Dorado tool predicts many transcription factors to have a high binding affinity in the 1100 base pairs upstream of C2orf73. Many of the transcription factors normally regulate processes such as cell development and differentiation, cell death, and the cell cycle.[19]

Interacting Proteins

Three proteins have been experimentally determined to interact with C2orf73 through Yeast Two-Hybrid experiments.[20]

  • FCH and Double SH3 Domains 2 (FCHSD2) - Function has not yet been defined
  • Heat Shock Protein Family B Member 1 (HSPB1) - Aids cell's resistance to stress
  • SH3 Domain Binding Protein 4 (SH3BP4) - Involved in endocytosis of specific cell surface receptors

Function

The function of C2orf73 is currently not well understood by the scientific community or anyone else.

Homology

There are no paralogs of C2orf73 in the Human genome. Orthologs are found throughout, but are limited to, the phylum Chordata (with a few exceptions in other phyla of the kingdom Animalia, like the Octopus bimaculoides).[21]

Species Common Name NCBI Accession Number Sequence Length (AA) Millions of Years Since LCA[22] % Identity % Similarity
Homo sapiens Human NP_001093866.1 287 - - -
Heterocephalus glaber Naked mole rat XP_004867342.1 235 90 62.2 68.2
Mus musculus Mouse NP_001093864.1 233 90 54.9 62.8
Fukomys damarensis Damaraland mole-rat XP_010614136.2 288 90 75.0 83.7
Pteropus vampyrus Large Flying Fox XP_011362281.1 291 96 77.7 82.8
Eptesicus fuscus Big Brown Bat XP_008160678.1 321 96 61.8 67.6
Rhinolophus sinicus Chinese Rufous Horseshoe Bat XP_019575083.1 301 96 71.4 79.4
Erinaceus europaeus European Hedgehog XP_007528011.1 284 96 63.8 71.4
Condylura cristata Star nosed mole XP_012586937.1 291 96 69.8 79.0
Camelus ferus Wild Bactrian camel XP_006174505.1 291 96 75.6 83.2
Capra hircus Goat XP_013823176.1 285 96 73.1 77.9
Bos taurus Cattle NP_001094753.1 290 96 75.5 81.0
Panthera pardus Leopard XP_019277335.1 292 96 75.0 82.2
Ursus maritimus Polar Bear XP_008698084.1 290 96 77.3 84.5
Falco peregrinus Peregrine Falcon XP_013152712.1 231 312 36.2 44.6
Apteryx mantelli North Island Brown Kiwi XP_013805202.1 197 312 36.9 41.9
Python bivittatus Burmese Python XP_007425859.1 314 312 30.8 45.0
Anolis carolinensis Carolina anole XP_003216202.2 320 312 35.3 42.7
Xenopus laevis African Clawed Frog XP_018118010.1 307 352 36.9 52.2
Nanorana parkeri Frog XP_018419829.1 307 352 36.4 45.8
Callorhinchus milii Australian Ghostshark XP_007890694.1 293 473 28.0 34.9
Ciona intestinalis Sea squirt XP_002125895.1 235 676 22.4 34.5
Octopus bimaculoides California two-spot octopus XP_014784430.1 242 797 22.4 30.0
Saccoglossus kowalevskii Acorn Worm XP_002735239.2 232 684 17.9 27.9

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000177994 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040919 – 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. ^ "Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA - Nucleotide - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  6. ^ "C2orf73 chromosome 2 open reading frame 73 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  7. ^ "C2orf73 Gene - GeneCards | CB073 Protein | CB073 Antibody". www.genecards.org. Retrieved 28 April 2017.
  8. ^ "C2orf73 chromosome 2 open reading frame 73 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  9. ^ "SDSC Biology Workbench". workbench.sdsc.edu. Retrieved 28 April 2017.
  10. ^ "I-TASSER server for protein structure and function prediction". zhanglab.ccmb.med.umich.edu. Retrieved 28 April 2017.
  11. ^ Zhang Y (January 2008). "I-TASSER server for protein 3D structure prediction". BMC Bioinformatics. 9 (1): 40. doi:10.1186/1471-2105-9-40. PMC 2245901. PMID 18215316.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  12. ^ Yang J, Yan R, Roy A, Xu D, Poisson J, Zhang Y (January 2015). "The I-TASSER Suite: protein structure and function prediction". Nature Methods. 12 (1): 7–8. doi:10.1038/nmeth.3213. PMC 4428668. PMID 25549265.
  13. ^ Roy A, Kucukural A, Zhang Y (April 2010). "I-TASSER: a unified platform for automated protein structure and function prediction". Nature Protocols. 5 (4): 725–38. doi:10.1038/nprot.2010.5. PMC 2849174. PMID 20360767.
  14. ^ "SDSC Biology Workbench". workbench.sdsc.edu. Retrieved 28 April 2017.
  15. ^ "ExPASy: SIB Bioinformatics Resource Portal - Categories". www.expasy.org. Retrieved 28 April 2017.
  16. ^ "PSORT II Prediction". psort.hgc.jp. Retrieved 28 April 2017.
  17. ^ Hay RT (April 2005). "SUMO: a history of modification". Molecular Cell. 18 (1): 1–12. doi:10.1016/j.molcel.2005.03.012. PMID 15808504.
  18. ^ "Home - GEO - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  19. ^ "Genomatix - NGS Data Analysis & Personalized Medicine". www.genomatix.de. Retrieved 28 April 2017.
  20. ^ "PSICQUIC View". www.ebi.ac.uk. Retrieved 28 April 2017.
  21. ^ Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (September 1997). "Gapped BLAST and PSI-BLAST: a new generation of protein database search programs". Nucleic Acids Research. 25 (17): 3389–402. doi:10.1093/nar/25.17.3389. PMC 146917. PMID 9254694.
  22. ^ "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved 28 April 2017.
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