C9orf25
FAM219A | |||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | FAM219A, C9orf25, bA573M23.5, family with sequence similarity 219 member A | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1919151; HomoloGene: 51830; GeneCards: FAM219A; OMA:FAM219A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
|
Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene.[5] The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.
Gene
[edit]Location
[edit]In humans, C9orf25 is located at the 9p13.3 position on chromosome 9.[6] The gene is encoded on the sense strand (-) spanning the chromosomal locus from base pair 34,502,909 to 34,398,027.[5][7] The span of the gene is 104,882 base pairs[8][9][10][11][12][13][14]
Transcript variants
[edit]In humans there are 8 main transcript variants of the FAM219A gene.[7] All of these transcripts have varying lengths and splice sites with transcript variant 1 being the longest and most abundant.[5][7] Only four of these transcripts encode for a protein product.[15]
Homology
[edit]Orthologs
[edit]The C9orf25 gene has orthologs in a wide variety of Eukaryotic organisms, including invertebrates. This gene has not been found in plants, fungi or protists.[17] C9orf25 is a slowly evolving gene.[16] It is also highly conserved throughout all of its known orthologs.
Paralogs
[edit]C9orf25 has a paralog FAM219B which is located on the long arm of chromosome 9 and is 198 amino acids long.[18] The C9orf25 and FAM219B genes duplicated and diverged between 684 and 797 million years ago.
Protein
[edit]General properties
[edit]The C9orf25 protein is composed of 185 amino acids. It has a molecular weight of 20.4 kilodaltons and an isoelectric point of 4.47.[19] It is a member of the FAM219 super family. The entire protein is still considered to be a domain of unknown function.
Protein localization
[edit]C9orf25 has no signal sequence and remains in the cytosol.[19]
Conserved motifs and post-translational modifications
[edit]The following are experimental post-transitional modifications for the C9orf25 protein:[20]
- 6 predicted Serine phosphorylation sites
- 1 predicted Tyrosine phosphorylation site
- 1 predicted prenylation site
Secondary structure
[edit]The secondary structure of the gene is predicted to have two stretches of alpha helices and one beta strand. The majority of the secondary structure of gene is random coils.[21]
Expression
[edit]The C9orf25 gene has medium to high expression in most tissues of the body.[22] The gene has particularly high expression in the nervous, digestive and male reproductive systems.[23]
Interacting proteins
[edit]The C9orf25 gene has many different interactions with a variety of other proteins that have an assortment of functions.[24][25] The main ones that are listed on at least two reviewed sources are shown below.
Interactor Gene | Full Protein Name | Method | Description | Clinical Significance (Potential) |
---|---|---|---|---|
LIMS3 | LIM Zinc finger domain | Two hybrid pooling approach | Senescent cell antigen containing protein | |
PDE6D | Rhodopsin sensitive cGMP phosphodiesterase subunit | Two hybrid pooling approach | Regulates the activity of the RAS protein in the cytosol | Joubert Syndrome |
NIPSNAP3A | NipSnap homolog 3A | Two Hybrid | Involved in the Acetylation and phosphorylation process | |
CSNK1A1 | Casein Kinase 1 Alpha 1 | Two Hybrid | Serine/Threonine protein kinase. Participates in S phase checkpoint arrest by phosphorylating Claspin | NSEOE |
SPRY2 | Protein Sprouty Homolog 2 | Two Hybrid | Antagonist of fibroblast growth factor | IgA nephropathy 3 |
BTRC | F-box/WD repeat containing protein | Affinity Capture | Substrate recognition component of SCF ubiquitin-protein ligase (phosphorolation dependent ubiquination) | CD4 (HIV-1) degregation |
MTA1 | Metastasis Associated Protein 1 | Affinity Capture | Cancer associated. DNA binding transcription factor activity | Esophageal and Breast cancer |
MTA3 | Metastasis Associated Protein 3 | Affinity Capture | Maintains epithelial architecture. Regulation of E-cadherin levels | Cancers related to epithelial cells |
Clinical significance
[edit]The C9orf25 protein is associated with several disease causing proteins, however does not seem to be responsible for disease on its own.[6][15] The gene seems to have higher expression in metastatic cells.[22]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000164970 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028439 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "FAM219A family with sequence similarity 219 member A [Homo sapiens (human)] - Gene - NCBI". ncbi.nlm.nih.gov. Retrieved 2018-05-05.
- ^ a b "Chromosome 9: 34,396,977-34,459,777 - Region in detail - Homo sapiens - Ensembl genome browser 92". useast.ensembl.org. Retrieved 2018-05-06.
- ^ a b c Thierry-Mieg D, Thierry-Mieg J. "AceView: Gene:C9orf25, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". ncbi.nlm.nih.gov. Retrieved 2018-05-06.
- ^ "Clustal Omega < Multiple Sequence Alignment < EMBL-EBI". ebi.ac.uk. Retrieved 2018-05-11.
- ^ "Multiple Sequence Alignment - CLUSTALW". genome.jp. Retrieved 2018-05-11.
- ^ "ExPASy: SIB Bioinformatics Resource Portal - Home". expasy.org. Retrieved 2018-05-11.
- ^ "NPS@: Welcome to Network Protein Sequence @nalysis at IBCP, France". npsa-prabi.ibcp.fr. Retrieved 2018-05-11.
- ^ "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2018-05-11.
- ^ "Genomatix".[permanent dead link ]
- ^ "RNA Folding Form | mfold.rit.albany.edu". unafold.rna.albany.edu. Retrieved 2018-05-11.
- ^ a b "FAM219A Gene". genecards.org. Retrieved 2018-05-06.
- ^ a b "UCSC Genome Browser Home". genome.ucsc.edu. Retrieved 2018-05-06.
- ^ "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2018-05-06.
- ^ "RecName: Full=Protein FAM219B - Protein - NCBI". ncbi.nlm.nih.gov. Retrieved 2018-05-06.
- ^ a b "SAPS < Sequence Statistics < EMBL-EBI". ebi.ac.uk. Retrieved 2018-05-06.
- ^ "PTM prediction tools". cbs.dtu.dk. Archived from the original on 2018-05-06. Retrieved 2018-05-06.
- ^ "NPS@: Welcome to Network Protein Sequence @nalysis at IBCP, France". npsa-prabi.ibcp.fr. Retrieved 2018-05-06.
- ^ a b c "Home - GEO Profiles - NCBI". ncbi.nlm.nih.gov. Retrieved 2018-05-06.
- ^ "Tissue expression of FAM219A - Summary - The Human Protein Atlas". proteinatlas.org. Retrieved 2018-05-06.
- ^ "BioGRID | Database of Protein, Chemical, and Genetic Interactions". thebiogrid.org. Retrieved 2018-05-06.
- ^ "HitPredict - High confidence protein-protein interactions". hintdb.hgc.jp. Archived from the original on 2018-05-06. Retrieved 2018-05-06.