C9orf135
Background
C9orf135 is a gene that is 229 amino acids long and is located on Chromosome 9 within Homo sapiens. It has a transmembrane domain from amino acids 124-140 and it also has a glycosylation site at amino acid 75. C9orf135 is part of GRCh37 gene on Chromosome 9. Also, c9orf135 is known by the name of LOC138255 which is a description of the gene location on Chromosome 9.1.[1]
One particular disease called premature ovarian failure has contained evidence of the c9orf135 gene in affected women.[2] In these women, an autosomal recessive microduplication occurs which may have a link to premature ovarian failure. There has also been a link between Parkinson’s disease in which the c9orf135 gene had a Single Nucleotide Polymorphism (SNP) that appeared to express a statistically significant mutation that was seen on a Manhattan plot.[3] More evidence and research must be done to understand if c9orf135 does in fact relate to Parkinson’s disease.[4]
Homology
| Genus/Species | Common Name | Divergence from Humans (MYA) | Accession Number | Amino Acid Length | Sequence Identity | Sequence Similarity |
|---|---|---|---|---|---|---|
| Homo sapiens | Human | -- | Q5VTT2 | 229 | -- | -- |
| Pongo abelii | Sumatran Orangutan | 15.8 | XP_002819904 | 206 | 86% | 87% |
| Rhinopithecus roxellana | Golden Snub-Nosed Monkey | 29.1 | XP_010361250 | 229 | 93% | 95% |
| Mus musculus | House Mouse | 90.9 | EDL41604 | 228 | 64% | 73% |
| Pteropus alecto | Black Flying Fox | 97.5 | XP_785964 | 230 | 79% | 86% |
| Equus przewalskii | Przewalski's horse | 97.5 | XP_008504806 | 183 | 77% | 86% |
| Panthera tigris altaica | Siberian Tiger | 97.5 | XP_007077537 | 187 | 73% | 83% |
| Ovis aries | Sheep | 97.5 | XP_014948670 | 207 | 69% | 77% |
| Elephantulus edwardii | Cape Elephant Shrew | 105 | XP_006894485 | 254 | 72% | 82% |
| Pelodiscus sinensis | Chinese Softshell Turtle | 320.5 | XP_006137902 | 217 | 55% | 68% |
| Gekko japonicus | Gekko | 320.5 | XP_015275999 | 221 | 52% | 64% |
| Alligator mississippiensis | American Alligator | 320.5 | XP_014464144 | 212 | 51% | 64% |
| Ophiophagus hannah | King Cobra | 320.5 | ETE61720 | 215 | 43% | 59% |
| Salmo Salar | Atlantic Salmon | 429.6 | XP_013998840 | 99 | 34% | 55% |
| Esox lucius | Northern Pike | 429.6 | XP_010901691 | 154 | 30% | 47% |
| Branchiostoma floridae | Lancelet | 733 | XP_002591786 | 221 | 45% | 59% |
| Strongylocentrotus purpuratus | Sea Urchin | 747.8 | XP_785964 | 241 | 47% | 62% |
| Saccoglossus kowalevskii | Acorn Worm | 747.8 | XP_002733410 | 153 | 38% | 58% |
| Lingula anatina | Ocean Clam | 847 | XP_013398605 | 220 | 43% | 59% |
| Crassostrea gigas | Pacific Oyster | 847 | XP_011426944 | 215 | 40% | 57% |
| Helobdella robusta | Leech | 847 | XP_009019861 | 256 | 29% | 44% |
Protein Interaction
PB2 interacts with c9orf135 which was found from a two-hybrid yeast array. The information provided about PB2 (Polymerase Basic Protein 2) is that it is a viral protein that is involved with influenza A virus. It is primarily involved in Cap stealing in which itbinds the pre-mRNA cap an ultimately cleaves 10-13 nucleotides off. Also, PB2is important for starting the replication of viral genomes. One final thing PB2 is involved with is the ability to inhibit type 1 interferon. It does this by inhibiting mitochondrial antiviral signaling protein MAVS.[5]
References
- ↑ Result Filters. (n.d.). Retrieved February 07, 2016, from http://www.ncbi.nlm.nih.gov/protein/Q5VTT2.1
- ↑ Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure. McGuire, Megan M; Bowden, Wayne; Engel, Natalie J; Ahn, Hyo Won; Kovanci, Ertug et al.(2011) Fertility and sterility vol.95(5)p.1595-600
- ↑ Genomic determinants of motor and cognitive outcomes in Parkinson's disease. Chung, Sun Ju; Armasu, Sebastian M; Biernacka, Joanna M; Anderson, Kari J; Lesnick, Timothy G et al.(2012)Parkinsonism & related disorders vol. 18(7)p.881-6
- ↑ Genomic determinants of motor and cognitive outcomes in Parkinson's disease. Chung, Sun Ju; Armasu, Sebastian M; Biernacka, Joanna M; Anderson, Kari J; Lesnick, Timothy G et al.(2012)Parkinsonism & related disorders vol. 18(7)p.881-6
- ↑ IntAct http://www.ebi.ac.uk/intact/interactions?conversationContext=2