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Arylsulfatase Family Member J
Arylsulfatase J (derived from gene ARSJ) is a protein found in Homo sapiens, with a DNA sequence originating on chromosome 4. The functionality of this family of proteins is associated with hydrolyzing sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. It is commonly associated with the synthesis of hormones and the modulation of cell signals. The sequence is comprised of 9 distinct regions to its structure, is one of 5 known isoforms, containing 2 exons, has two identified promotor regions, spanning 76.7 kb and is comprised of 599 amino acids.

Gene Characteristics
Gene expression for ARSJ is found within 16 tissues of primates including the kidneys, liver, bone marrow, brain, heart and lungs. There are 15 species of primates that its currently known to be expressed in including Chimpanzees, Owl Monkeys and Ring-Tailed Lemurs. Known orthologs have been found in other mammals such as mice, horses, killer whales and non-mammals such as C. elegans. Based on data from the NCBI Gene database, RNA sequencing showed a high concentration within the colon, gall bladder, prostate and kidneys in order to determine tissue-specificity for protein-coding. Data from that same record shows that transcription profiling highlights a high concentration within kidneys, lungs, the prostate and ovaries. when performing tissue-specific circular RNA induction during human fetal development, the intestines (weeks 15, 20) and the stomach (weeks 16, 18, 20) displayed the highest results for tissue concentration.

Protein Characteristics
The ARSJ protein, cytoplasmically expressed, is predicted to be an intracellular protein, localized on actin filaments that is commonly associated with sulfuric ester hydrolase activity and arylsulfatase activity. Common protein-protein interactions are predicted with members of its own subfamily as well as Sulfatase-modifying factor 1 (SUMF1), Sulfatase-modifying factor 2 (SUMF2), and Steryl-sulfatase (STS). Protein expression is higher in tissues such as the cerebral cortex, muscle tissue, lungs and endocrine tissues.

Transcription Factors
Regulation of transcription activity has been associated with KRT31, TRAF1, TRAF2 and ZMIZ2. Binding sites for transcription factors include C/EBPalpha, E47, En-1, FOXL1, HOXA3, IRF-2, Lhx3a, LHX3b, Tal-1 and TBP. Utilizing the ElDorado tool (by Genomatix), the most prevalent promotor region, with 13 coding transcripts (GXP_6048831), was identified with a length of 1040 bp, associated with transcription in the cerebellum, heart, gall bladder, urethra and amygdala.

Diseases
The diseases associated with this gene include Rett Syndrome, and Congenital Variant.