TMED10
Emp24 transmembranski protein 10 sa domenom jeprotein koji je kosd ljudi kodiran genom TMED10.[4][5][6]
Ovaj gen je član porodice EMP24 / GP25L/p24 i kodira protein sa GOLD domenom. Ovaj membranski protein tipa I lokaliziran je na plazmamembrani i Golgijevim cisternama i uključen je u promet vezikulskim proteinima. Protein je također član kompleksa heteromerne sekretaze i regulira aktivnost gama-sekretaznog kompleksa, bez utjecaja na njegovu aktivnost epsilon-sekretaze. Mutacije u ovom genu povezane su s ranom porodičnom Alzheimerovom bolešću. Ovaj gen ima pseudogen na hromosomu 8.[6]
Analizom povezanosti, Sherrington et al. (1995) mapirali su gen TMP21 na hromosomu 14, regija 14q24.3.[7]
Aminokiselinska sekvenca[uredi | uredi izvor]
Dužina polipeptidnog lanca je 219 aminokiselina, a molekulska težina 24 976 Da.[8]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MSGLSGPPAR | RGPFPLALLL | LFLLGPRLVL | AISFHLPINS | RKCLREEIHK | ||||
| DLLVTGAYEI | SDQSGGAGGL | RSHLKITDSA | GHILYSKEDA | TKGKFAFTTE | ||||
| DYDMFEVCFE | SKGTGRIPDQ | LVILDMKHGV | EAKNYEEIAK | VEKLKPLEVE | ||||
| LRRLEDLSES | IVNDFAYMKK | REEEMRDTNE | STNTRVLYFS | IFSMFCLIGL | ||||
| ATWQVFYLRR | FFKAKKLIE |
- Simboli
C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin
Kloniranje i ekspresija[uredi | uredi izvor]
Blum et al. (1996) identificirali su 21-kD protein mikrosomne membrane pacovske gušterače koji su označili kao Tmp21. Sondiranjem biblioteke cDNK u ljudskom mozgu s fragmentom pacovske sekvence izolirali su cDNK koja kodira ljudaski TMP21. Izvedeni unutarćelijski transmembranski protein 219-aminokiselinskog tipa I sadrži signalnu sekvencu i predviđeno je da se nalazi u lumenu endoplazmatskog retikuluma. Northern blot analiza otkrila je transkript TMP21 od 1,4 kb. Imunoblot analiza pokazala je da se pacovski protein Tmp21 eksprimira pretežno u mikrosomskoj frakciji acinarnih ćelija gušterače. Horer i dr. (1999) utvrdili su da je navodna izoforma TMP21, TMP21-II, neutralni pseudogen.[9][10]
Funkcija gena[uredi | uredi izvor]
Chen et al. (2006) identificirali su TMP21 kao komponentu presenilinskog kompleksa koji različito regulira cijepanje gama-sekretaze, bez uticaja na aktivnost epsilon-sekretaze.[11]
Reference[uredi | uredi izvor]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000170348 - Ensembl, maj 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.
- ^ Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, et al. (Aug 1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease". Nature. 375 (6534): 754–60. doi:10.1038/375754a0. PMID 7596406.
- ^ Blum R, Feick P, Puype M, Vandekerckhove J, Klengel R, Nastainczyk W, Schulz I (Sep 1996). "Tmp21 and p24A, two type I proteins enriched in pancreatic microsomal membranes, are members of a protein family involved in vesicular trafficking". J Biol Chem. 271 (29): 17183–9. doi:10.1074/jbc.271.29.17183. PMID 8663407.
- ^ a b "Entrez Gene: TMED10 transmembrane emp24-like trafficking protein 10 (yeast)".
- ^ Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., Tsuda, T., Mar, L., Foncin, J.-F., Bruni, A. C., Montesi, M. P., Sorbi, S., Rainero, I., Pinessi, L., Nee, L., Chumakov, I., Pollen, D., Brookes, A., Sanseau, P., Polinsky, R. J., Wasco, W., Da Silva, H. A. R., Haines, J. L., Pericak-Vance, M. A., Tanzi, R. E., Roses, A. D., Fraser, P. E., Rommens, J. M., St George-Hyslop, P. H. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760, 1995. PubMed: 7596406
- ^ "UniProt, P49755". Pristupljeno 6. 2. 2017.
- ^ Blum, R., Feick, P., Puype, M., Vandekerckhove, J., Klengel, R., Nastainczyk, W., Schulz, I. Tmp21 and p24A, two type I proteins enriched in pancreatic microsomal membranes, are members of a protein family involved in vesicular trafficking. J. Biol. Chem. 271: 17183-17189, 1996. PubMed: 8663407
- ^ Horer, J., Blum, R., Feick, P., Nastainczyk, W., Schulz, I. A comparative study of rat and human Tmp21 (p23) reveals the pseudogene-like features of human Tmp21-II. DNA Seq. 10: 121-126, 1999. PubMed: 10376215
- ^ Chen, F., Hasegawa, H., Schmitt-Ulms, G., Kawarai, T., Bohm, C., Katayama, T., Gu, Y., Sanjo, N., Glista, M., Rogaeva, E., Wakutani, Y., Pardossi-Piquard, R., Ruan, X., Tandon, A., Checler, F., Marambaud, P., Hansen, K., Westaway, D., St George-Hyslop, P., Fraser, P. TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity. Nature 440: 1208-1212, 2006. PubMed: 16641999
Dopunska literatura[uredi | uredi izvor]
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- Gommel D, Orci L, Emig EM, et al. (1999). "p24 and p23, the major transmembrane proteins of COPI-coated transport vesicles, form hetero-oligomeric complexes and cycle between the organelles of the early secretory pathway". FEBS Lett. 447 (2–3): 179–85. doi:10.1016/S0014-5793(99)00246-X. PMID 10214941.
- Hörer J, Blum R, Feick P, et al. (1999). "A comparative study of rat and human Tmp21 (p23) reveals the pseudogene-like features of human Tmp21-II". DNA Seq. 10 (2): 121–6. doi:10.3109/10425179909008429. PMID 10376215.
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- Chen F, Hasegawa H, Schmitt-Ulms G, et al. (2006). "TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity". Nature. 440 (7088): 1208–12. doi:10.1038/nature04667. PMID 16641999.
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