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Gene Review

SERINC1  -  serine incorporator 1

Homo sapiens

Synonyms: KIAA1253, Serine incorporator 1, TDE1L, TDE2, TMS-2, ...
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Disease relevance of SERINC1

  • The MEPs and SPs were recorded from the abductor pollicis brevis muscle after single pulse TMS 2 weeks after head trauma [1].
  • Corneal topography was performed by computer-assisted videokeratoscope topographic modelling system 2 (TMS-2) and incidence of corneal astigmatism, corneal topographic patterns, and mean values of the topographic indices were determined [2].

High impact information on SERINC1

  • Twenty-four of 37 mutations were missense mutations leading to amino acid changes located in or close to putative transmembrane segments (TMS 2, 3, 4, and 5), in the EAA-like motif and in the nucleotide fold of the ATP-binding domain of ALDP [3].
  • We hypothesize that TMS-2 slides across TMS-7 and TMS-11 when the lactose permease interconverts between the C1 and C2 conformations [4].
  • In the current study, mutagenesis was conducted along the face of TMS-2 that contains glycine-64 [4].
  • These mutations were either first-site mutations or second-site suppressors in TMS-1, TMS-2, TMS-7 or TMS-11 [4].
  • In the current study, the wild-type D4 dopamine receptor showed an 8-fold decrease in zinc affinity in the presence of 120 mM NaCl, but the binding of zinc to the neutral TMS2 D4-D77N mutant was completely sodium-insensitive [5].

Associations of SERINC1 with chemical compounds

  • Overall, the results of this study are consistent with the notion that a face on TMS-2, containing Phe-49, Ser-53, Ser-56, Gln-60, and Gly-64, plays a critical role in conformational changes associated with lactose transport [4].

Analytical, diagnostic and therapeutic context of SERINC1


  1. Excitatory and inhibitory corticospinal responses to transcranial magnetic stimulation in patients with minor to moderate head injury. Chistyakov, A.V., Soustiel, J.F., Hafner, H., Trubnik, M., Levy, G., Feinsod, M. J. Neurol. Neurosurg. Psychiatr. (2001) [Pubmed]
  2. Topographical analysis of corneal astigmatism in patients with tilted-disc syndrome. Bozkurt, B., Irkec, M., Gedik, S., Orhan, M., Erdener, U. Cornea (2002) [Pubmed]
  3. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Feigenbaum, V., Lombard-Platet, G., Guidoux, S., Sarde, C.O., Mandel, J.L., Aubourg, P. Am. J. Hum. Genet. (1996) [Pubmed]
  4. A revised model for the structure and function of the lactose permease. Evidence that a face on transmembrane segment 2 is important for conformational changes. Green, A.L., Anderson, E.J., Brooker, R.J. J. Biol. Chem. (2000) [Pubmed]
  5. The binding-site crevice of the D4 dopamine receptor is coupled to three distinct sites of allosteric modulation. Schetz, J.A., Sibley, D.R. J. Pharmacol. Exp. Ther. (2001) [Pubmed]
  6. Comparison of topographic indices that correlate with visual acuity in videokeratography. Shiotani, Y., Maeda, N., Inoue, T., Watanabe, H., Inoue, Y., Shimomura, Y., Tano, Y. Ophthalmology (2000) [Pubmed]
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