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Gene Review

KIAA1109  -  KIAA1109

Homo sapiens

Synonyms: FLJ21404, FSA, Fragile site-associated protein, KIAA1371, Tweek, ...
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Disease relevance of KIAA1109

  • G8 is also present in the N-terminus of some non-syndromic hearing loss disease-related proteins such as KIAA1109 and TMEM2 [1].
  • PURPOSE: To investigate the clinical course of patients with familial subepithelial amyloidosis of the cornea (FSA) [2].
  • As determined by RRA, the intrinsic FSA of tumour-derived hCG is most probably responsible for the suppression of hFSH in this group of patients with testicular cancer [3].
  • The LCT1 cells derived from a human lung adenocarcinoma and the FSA cells from a mouse fibrosarcoma were found to form spheroids [4].
  • After treatment there were substantial reductions of FSA in gingivitis (approximately 51%; P <0.01) and severe periodontitis (approximately 45%; P <0.001), but not in stable periodontitis (13%; P >0.2) [5].

Psychiatry related information on KIAA1109

  • Finally, younger individuals and men had significantly higher ageism scores on the FSA than older individuals and women [6].

High impact information on KIAA1109

  • Injection of SHN into inguinal adipose tissue 2 weeks after onset of diabetes also prevented the decrease in FSA (20 +/- 3.3 microV) [7].
  • Diabetes induced by streptozotocin (STZ) resulted in a sensory neuropathy manifest by a decrease in the foot sensory nerve amplitude (FSA; control = 20 +/- 0.1 microV, treated = 14 +/- 0.1 microV) [7].
  • Immunochemical comparisons utilized antiserums to antigens in the human glomerulus: antiglomerular basement membrane, antifibroblast surface antigen (FSA) (reactive extensively with the mesangium), antiactomyosin (AMY) localizing more restrictively in the mesangium, and antihemophilic factor (AHF) localizing to the endothelium [8].
  • The results from FSA affinity labeling of the cofactor region confirm that both 3 alpha and 20 beta activities share the same active site of 3 alpha, 20 beta-HSD and suggest a model of cofactor binding and promotion of enzyme activity [9].
  • Oxidized and reduced nicotinamide mononucleotides (NMH and NMNH) and steroid substrates did not protect 3 alpha, 20 beta-HSD against affinity labeling by FSA [9].

Chemical compound and disease context of KIAA1109

  • In vitro lymphoproliferation and antibody synthesis by peripheral blood mononuclear cells (PBMC) in response to pokeweed mitogen (PWM) and Formalin-treated Staphylococcus aureus Cowan I (FSA) from 31 leprosy patients and 13 healthy controls were studied [10].

Biological context of KIAA1109

  • Parallel plots derived from Kitz and Wilson analysis indicate that FSA inactivates the two enzyme activities with equal alkylation efficiency (k3/Ki = 1/slope = 0.51/mol-s for both) [11].
  • The affinity labeling nucleotide analog, 5'-[p-(fluorosulfonyl)benzoyl]adenosine (FSA), inactivates the dehydrogenase and isomerase activities at similar rates in an irreversible manner which follows first order kinetics with respect to both time and alkylator concentration (0.2-0.6 mM) [11].
  • 14 other patients carried the type 1 inversion, affecting the distal copy of the FSA gene at the telomere of the X chromosome and the same gene in intron 22 of the FVIII gene [12].
  • BACKGROUND: Both four-site skinfold anthropometry (FSA) and bioelectrical impedance analysis (BIA) claim to be useful in routine clinical practice of maintenance dialysis as easy methods to assess nutritional status [13].

Anatomical context of KIAA1109

  • The purification procedure for human gastric juice FSA and its chemical composition [14].
  • The present investigation determined the TSA, CLSA (Corrected Lipid Sialic Acidi) and FSA values for 20 normal females, 10 patients with benign gynecological disease and 32 patients with various stages of carcinoma of the uterine cervix [15].
  • The present study shows that in about 12.4% of subjects the first septal artery (FSA) is very near from the His bundle [16].
  • However, aggressive lesions had a higher RSI, and recurrent giant cells lesions had a higher RSI and FSA; these parameters warrant further study [17].
  • The published growth data were examined for six tumor cell lines (FSA, Line 1, MCA-11, EMT6/RO, MGH-U1, MLS) grown in vivo and in vitro as monolayer cultures and as multicell spheroids cultured under different experimental conditions [18].

Associations of KIAA1109 with chemical compounds

  • The 3 beta-hydroxysteroid substrate, pregnenolone, protects isomerase as well as dehydrogenase from inactivation by FSA [11].
  • FSA (Free Sialic Acid) has not been considered as a potential tumor marker due to a lack of sensitivity of the methods used in the studies performed up to now [15].
  • Perfluorinated surfactants (e.g. PFOS and PFOA) have shown different potentials for reproductory interference and carcinogenity in animal experiments as well as partly long half-lives in humans (Guruge et al. 2006, FSA UK 2006a, FSA UK 2006b, 3M 2005, OECD 2002, Yao and Zhong 2005) [19].

Analytical, diagnostic and therapeutic context of KIAA1109

  • The seven Japanese patients with FSA had a total of 35 keratoplasties, each of which was followed by a severe recurrence of disease [2].
  • A potential FSH-like activity (FSA) of hCG in the respective sera was determined by radioreceptor assays (RRA) for LH/CG and FSH [3].
  • FSA measurements were also positively associated with crevicular fluid flow at baseline, but after treatment there was a approximately 67% decrease (P <0.01) in the highest crevicular fluid flow class [5].
  • The levels of secreted IgM, IgG, or IgA were examined in the 7-day culture supernatants of PBMC cultured with or without PWM or FSA using an enzyme-linked immunosorbent assay [10].
  • Total hip replacements (THR) have been done at FSA Central Hospital in Akureyri, Iceland since 1982 with the Exeter hip implant being in use from the beginning [20].


  1. G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss. He, Q.Y., Liu, X.H., Li, Q., Studholme, D.J., Li, X.W., Liang, S.P. Bioinformatics (2006) [Pubmed]
  2. Long-term follow-up of patients with familial subepithelial amyloidosis of the cornea. Shimazaki, J., Hida, T., Inoue, M., Saito, H., Tsubota, K. Ophthalmology (1995) [Pubmed]
  3. Gonadotrophin secretion patterns in testicular cancer patients with greatly increased human chorionic gonadotrophin serum concentrations. Madersbacher, S., Gerth, R., Mann, K., Dirnhofer, S., Berger, P. J. Endocrinol. (1998) [Pubmed]
  4. Linear quadratic model of radiocurability on multicellular spheroids of human lung adenocarcinoma LCT1 and mouse fibrosarcoma FSA. Sakata, K., Okada, S., Majima, H., Suzuki, N. Int. J. Radiat. Biol. (1992) [Pubmed]
  5. Use of a fluorogenic septapeptide matrix metalloproteinase assay to assess responses to periodontal treatment. Bhide, V.M., Smith, L., Overall, C.M., Birek, P., McCulloch, C.A. J. Periodontol. (2000) [Pubmed]
  6. The multidimensional nature of ageism: construct validity and group differences. Rupp, D.E., Vodanovich, S.J., Credé, M. The Journal of social psychology. (2005) [Pubmed]
  7. Herpes simplex-mediated gene transfer of nerve growth factor protects against peripheral neuropathy in streptozotocin-induced diabetes in the mouse. Goss, J.R., Goins, W.F., Lacomis, D., Mata, M., Glorioso, J.C., Fink, D.J. Diabetes (2002) [Pubmed]
  8. Human glomerular cells in culture. Three subcultured cell types bearing glomerular antigens. Scheinman, J.I., Fish, A.J. Am. J. Pathol. (1978) [Pubmed]
  9. Nicotinamide adenine dinucleotide binding and promotion of enzyme activity: model based on affinity labeling of 3 alpha, 20 beta-hydroxysteroid dehydrogenase with a nucleoside. Sweet, F., Samant, B.R. Biochemistry (1981) [Pubmed]
  10. Lymphoproliferation and in vitro antibody synthesis in leprosy patients. Yandava, C.N., Bhutani, L.K., Sharma, A.K., Nath, I. Int. J. Lepr. Other Mycobact. Dis. (1989) [Pubmed]
  11. Analysis of coenzyme binding by human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase using 5'-[p-(fluorosulfonyl)benzoyl]adenosine, an affinity labeling cofactor analog. Thomas, J.L., Myers, R.P., Strickler, R.C. J. Steroid Biochem. Mol. Biol. (1991) [Pubmed]
  12. Molecular characterization of haemophilia A in southern Chinese. Chan, V., Pang, A., Chan, T.P., Chan, V.W., Chan, T.K. Br. J. Haematol. (1996) [Pubmed]
  13. Four-site skinfold anthropometry (FSA) versus body impedance analysis (BIA) in assessing nutritional status of patients on maintenance hemodialysis: which method is to be preferred in routine patient care? Oe, B., de Fijter, C.W., Oe, P.L., Stevens, P., de Vries, P.M. Clin. Nephrol. (1998) [Pubmed]
  14. The purification procedure for human gastric juice FSA and its chemical composition. Häkkinen, I.P. Clin. Exp. Immunol. (1980) [Pubmed]
  15. Correlation of serum sialic acid fractions as markers for carcinoma of the uterine cervix. Lagana, A., Martinez, B.P., Marino, A., Fago, G., Bizzarri, M. Anticancer Res. (1995) [Pubmed]
  16. The relation between His bundle and the first septal perforating artery: implications for percutaneous transluminal septal myocardial ablation. Cui, W., Liu, F., Zu, X., Du, J., Hao, Y., Li, Y., Li, B., Wu, J. International journal of cardiology. (2004) [Pubmed]
  17. Central giant cell lesions of the jaws: a clinicopathologic study. Chuong, R., Kaban, L.B., Kozakewich, H., Perez-Atayde, A. J. Oral Maxillofac. Surg. (1986) [Pubmed]
  18. The exponential-Gompertzian tumor growth model: data from six tumor cell lines in vitro and in vivo. Estimate of the transition point from exponential to Gompertzian growth and potential clinical implications. Demicheli, R., Pratesi, G., Foroni, R. Tumori. (1991) [Pubmed]
  19. Perfluorinated surfactants in surface and drinking waters. Skutlarek, D., Exner, M., F??rber, H. Environmental science and pollution research international. (2006) [Pubmed]
  20. Revision and complication rates in 654 Exeter total hip replacements, with a maximum follow-up of 20 years. Franklin, J., Robertsson, O., Gestsson, J., Lohmander, L.S., Ingvarsson, T. BMC musculoskeletal disorders [electronic resource]. (2003) [Pubmed]
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