PIGN
| PIGN | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||||||||||||||||
| Aliasi | PIGN | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 606097 MGI: 1351629 HomoloGene: 6330 GeneCards: PIGN | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) |
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| Lokacija (UCSC) | Chr 18: 61.91 – 62.19 Mb | Chr 1: 105.45 – 105.59 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Biosintetsko fosfatidilinozitol-glikansko sidro klase N je protein koji je kod ljudi kodiran genom PIGN.[5]
Dužina polipeptidnog lanca je 931 aminokiselina, sa molekulskom težinom od 105.810.[6].
Aminokiselinska sekvenca
- 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
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MLLFFTLGLL | IHFVFFASIF | DIYFTSPLVH | GMTPQFTPLP | PPARRLVLFV | ||||
| ADGLRADALY | ELDENGNSRA | PFIRNIIMHE | GSWGISHTRV | PTESRPGHVA | ||||
| LIAGFYEDVS | AVAKGWKENP | VEFDSLFNES | KYTWSWGSPD | ILPMFAKGAS | ||||
| GDHVYTYSYD | AKREDFGAQD | ATKLDTWVFD | NVKDFFHHAR | NNQSLFSKIN | ||||
| EEKIVFFLHL | LGIDTNGHAH | RPSSRDYKHN | IKKVDDGVKE | IVSMFNHFYG | ||||
| NDGKTTFIFT | SDHGMTDWGS | HGAGHPSETL | TPLVTWGAGI | KYPQRVSAQQ | ||||
| FDDAFLKEWR | LENWKRLDVN | QADIAPLMTS | LIGVPFPLNS | VGILPVDYLN | ||||
| NTDLFKAESM | FTNAVQILEQ | FKVKMTQKKE | VTLPFLFTPF | KLLSDSKQFN | ||||
| ILRKARSYIK | HRKFDEVVSL | CKELIHLALK | GLSYYHTYDR | FFLGVNVVIG | ||||
| FVGWISYASL | LIIKSHSNLI | KGVSKEVKKP | SHLLPCSFVA | IGILVAFFLL | ||||
| IQACPWTYYV | YGLLPLPIWY | AVLREFQVIQ | DLVVSVLTYP | LSHFVGYLLA | ||||
| FTLGIEVLVL | SFFYRYMLTA | GLTAFAAWPF | LTRLWTRAKM | TSLSWTFFSL | ||||
| LLAVFPLMPV | VGRKPDISLV | MGAGLLVLLL | SLCVVTSLMK | RKDSFIKEEL | ||||
| LVHLLQVLST | VLSMYVVYST | QSSLLRKQGL | PLMNQIISWA | TLASSLVVPL | ||||
| LSSPVLFQRL | FSILLSLMST | YLLLSTGYEA | LFPLVLSCLM | FVWINIEQET | ||||
| LQQSGVCCKQ | KLTSIQFSYN | TDITQFRQLY | LDDIRRAFFL | VFFLVTAFFG | ||||
| TGNIASINSF | DLASVYCFLT | VFSPFMMGAL | MMWKILIPFV | LVMCAFEAVQ | ||||
| LTTQLSSKSL | FLIVLVISDI | MALHFFFLVK | DYGSWLDIGT | SISHYVIVMS | ||||
| MTIFLVFLNG | LAQLLTTKKL | RLCGKPKSHF | M |
Funkcija
Ovaj gen kodira protein koji je uključen u biosintezu glikozilfosfatidilinozitolskog (GPI) sidra. GPI sidro je glikolipid koji se nalazi na mnogim krvnim ćelijama i služi za sidrenje proteina na njihovoj površini. Ovaj protein se eksprimira se u endoplazmatskom retikulumu i prenosi fosfoetanolamin (EtNP) u prvu manozu sidra GPI.
Klinički značaj
Mutacije u PIGN uzrokuju prirođenu dijafragmatsku kilu.[7]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000197563 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056536 - 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.
- ^ "Entrez Gene: Phosphatidylinositol glycan anchor biosynthesis, class N".
- ^ "UniProt, O95427". Pristupljeno 12. 9. 2017.
- ^ Brady PD, Moerman P, De Catte L, Deprest J, Devriendt K, Vermeesch JR (septembar 2014). "Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia". European Journal of Medical Genetics. 57 (9): 487–93. doi:10.1016/j.ejmg.2014.05.001. PMID 24852103.
Dopunska literatura
- Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W (2012). "Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations". Genetic Counseling. 23 (2): 201–6. PMID 22876578.
- Kinoshita T, Inoue N (decembar 2000). "Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis". Current Opinion in Chemical Biology. 4 (6): 632–8. doi:10.1016/s1367-5931(00)00151-4. PMID 11102867.
- Gaynor EC, Mondésert G, Grimme SJ, Reed SI, Orlean P, Emr SD (mart 1999). "MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast". Molecular Biology of the Cell. 10 (3): 627–48. doi:10.1091/mbc.10.3.627. PMC 25192. PMID 10069808.
- Hong Y, Maeda Y, Watanabe R, Ohishi K, Mishkind M, Riezman H, Kinoshita T (decembar 1999). "Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol". The Journal of Biological Chemistry. 274 (49): 35099–106. doi:10.1074/jbc.274.49.35099. PMID 10574991.
- McDonough CW, Bostrom MA, Lu L, Hicks PJ, Langefeld CD, Divers J, Mychaleckyj JC, Freedman BI, Bowden DW (decembar 2009). "Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping". Human Genetics. 126 (6): 805–17. doi:10.1007/s00439-009-0732-8. PMC 2937163. PMID 19690890.
- Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L (juni 2011). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN". Journal of Medical Genetics. 48 (6): 383–9. doi:10.1136/jmg.2010.087114. PMID 21493957. S2CID 39973123.
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