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The FAM185A (Gene Family with sequence similarity 185, member A) gene is found on the positive strand of Chromosome 7 at 7q22.1. The gene begins 102,389,399bp from the p-terminus of the chromosome and ends at 102,449,672bp from the p-terminus; it covers a total of 73,308 basepairs.[1] The protein encoded by this gene is characterized by the presence of multiple copies of DUF4098 (Domain of unknown function, 4098) near its C-terminus. It is described as a Long Interspersed Nuclear Element (LINE), a subclass of penaeid repetitive elements (PREs)[2].
Homology[edit]
Homologs have been found in many animal species, but no fungal, plant, or other more distantly related homologs have been found[3] .
Clades that are known to have FAM185A orthologs include:
- Chordata
- Echinodermata
- Hemichordata
- Arthropoda
- Mollusca
- Annelida
- Cnidaria
- Heterokontophyta
- Choanoflagellatea
Clades in which no orthologs or homologs have been found include:
Protein[edit]
Isoforms[edit]
Two protein forming isoforms[1] are known to be transcribed from the FAM185A gene. Isoform 1 is the longer isoform, resulting in a protein 392 amino acids long. Isoform 2 is a shortened version of Isoform 1 resulting from alternative splicing of the mRNA. Isoform 2 forms a 275aa protein; it is missing a 118aa segment near the N-terminus of the protein.
DUF4098[edit]
Domain of Unknown Function 4098 is domain found in all FAM185A orthologs, as well as in some other non-orthologous species. DUF4098 is a c-terminal repetitive bacterial domain and is part of the pfam13345 family of domains and the superfamily cl16248[4].
Pseudogene, FAM185BP[edit]
Only one paralog, a pseudogene, for FAM185A exists in humans. The pseudogene, known as FAM185BP (Family of sequence similarity 185, member B, pseudogene), is also located on chromosome 7, from 76,713,203bp to 76,751,689bp.[5] The pseudogene encodes a non-functional 365aa protein, of which the first 356 residues are identical to that of FAM185A isoform 1.
Expression[edit]
Promoter[edit]
The predicted promoter region for FAM185A transcription is located just upstream of the gene from 102,388,867bp to 102,389,996bp of Chromosome 7[6]. This region overlaps slightly with the translational start site of the protein, located at approximately 102,389,656bp of the genomic DNA. Over 200 potential transcription factor binding sites have been identified within the promoter region[6].
Tissue Expression[edit]
FAM185A is moderately expressed in select nervous tissues. SAGE data [7] shows expression in the brain, cerebral cortex, retina, and skin of human tissues.
Subcellular Expression[edit]
The subcellular location of the protein is not definitively known, but the protein is predicted to be either imported into the mitochondria or nucleus or to remain within the cytoplasm[8] .
Interacting Proteins[edit]
There are currently no confirmed protein interactions with FAM185A.
Clinical Significance[edit]
Currently, no diseases are known to be related to FAM185A mutations.
References[edit]
- ^ a b FAM185A Gene page at NCBI[1]
- ^ Huang, Shiao-Wei; Lin, You-Yu; You, En-Min; Liu, Tze-Tze; Shu, Hung-Yu; Wu, Keh-Ming; Tsai, Shih-Feng; Lo, Chu-Fang; Kou, Guang-Hsiung; Ma, Gwo-Chin; Chen, Ming; Wu, Dongying; Aoki, Takashi; Hirono, Ikuo; Yu, Hon-Tsen (2011). "Fosmid library end sequencing reveals a rarely known genome structure of marine shrimp Penaeus monodon". BMC Genomics. 12. doi:10.1186/1471-2164-12-242. PMID 21575266. S2CID 17626365.
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: unflagged free DOI (link) - ^ "BLAST". NCBI.
- ^ "CDD page for DUF4098". NCBI. Retrieved 2 May 2013.
- ^ FAM185BP Gene page at NCBI[2]
- ^ a b "ElDorado". Genomatix.
- ^ FAM185A at GeneCards.org [3]
- ^ Horton, Paul. "WoLF PSORT". Retrieved April 2013.
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