GPD1

GPD1
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 1WPQ, 1X0V, 1X0X
Identifikatori
Aliasi	GPD1
Vanjski ID-jevi	OMIM: 138420 MGI: 95679 HomoloGene: 5593 GeneCards: GPD1
Lokacija gena (čovjek) Hrom. Hromosom 12 (čovjek) Bend 12q13.12 Početak 50,103,982 bp Kraj 50,111,313 bp
Lokacija gena (miš) Hrom. Hromosom 15 (miš) Bend 15 F1|15 56.13 cM Početak 99,615,396 bp Kraj 99,622,886 bp
Ontologija gena Molekularna funkcija • GO:0050229 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor • protein homodimerization activity • NAD binding • glycerol-3-phosphate dehydrogenase [NAD+ activity] • oxidoreductase activity • glycerol-3-phosphate dehydrogenase (quinone) activity • GO:0036439 glycerol-3-phosphate dehydrogenase [NAD(P)+ activity] Ćelijska komponenta • citoplazma • citosol • glycerol-3-phosphate dehydrogenase complex • mitohondrija • Egzosom Biološki proces • phosphatidic acid biosynthetic process • glycerolipid metabolic process • Glukoneogeneza • glycerol-3-phosphate catabolic process • cellular response to tumor necrosis factor • glycerol-3-phosphate metabolic process • NADH metabolic process • NADH oxidation • glycerophosphate shuttle • positive regulation of glycolytic process • cellular response to cAMP • carbohydrate metabolic process Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	2819	14555
Ensembl	ENSG00000167588	ENSMUSG00000023019
UniProt	P21695	P13707
RefSeq (mRNK)	NM_005276 NM_001257199	NM_010271
RefSeq (bjelančevina)	NP_001244128 NP_005267	NP_034401
Lokacija (UCSC)	Chr 12: 50.1 – 50.11 Mb	Chr 15: 99.62 – 99.62 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Glicerol-3-fosfat dehidrogenaza 1 je protein koji je kod ljudi kodiran genom GPD1.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 349 aminokiselina, a molekulska težina 37.568 Da.

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
MASKKVCIVG		SGNWGSAIAK		IVGGNAAQLA		QFDPRVTMWV		FEEDIGGKKL
TEIINTQHEN		VKYLPGHKLP		PNVVAVPDVV		QAAEDADILI		FVVPHQFIGK
ICDQLKGHLK		ANATGISLIK		GVDEGPNGLK		LISEVIGERL		GIPMSVLMGA
NIASEVADEK		FCETTIGCKD		PAQGQLLKEL		MQTPNFRITV		VQEVDTVEIC
GALKNVVAVG		AGFCDGLGFG		DNTKAAVIRL		GLMEMIAFAK		LFCSGPVSSA
TFLESCGVAD		LITTCYGGRN		RKVAEAFART		GKSIEQLEKE		LLNGQKLQGP
ETARELYSIL		QHKGLVDKFP		LFMAVYKVCY		EGQPVGEFIH		CLQNHPEHM

Funkcija

Ovaj gen kodira člana NAD-ovisne porodice glicerol-3-fosfat dehidrogenaza. Kodirani protein ima ključnu ulogu u metabolizmu ugljikohidrata i lipida, katalizirajući reverzibilnu konverziju dihidroksiaceton-fosfata (DHAP) i reduciranog nikotin-adenin dinukleotida (NADH) u glicerol-3-fosfat (G3P) i NAD+.

Kodirani citosolni protein i mitohondrijska glicerol-3-fosfat dehidrogenaza također tvore šatl glicerol-fosfata, koji olakšava prijenos redukcijskih ekvivalenata iz citosola u mitohondrije.

Mutacije u ovom genu uzrok su prolazne dojenačke hipertrigliceridemije. Za ovaj gen uočene su Alternativno prerađene varijante transkripta koje kodiraju više izoformi .

Dopunska literatura

• Gudayol M, Vidal J, Usac EF, Morales A, Fabregat ME, Fernández-Checa JC, Novials A, Gomis R (2001). "Identification and functional analysis of mutations in FAD-binding domain of mitochondrial glycerophosphate dehydrogenase in caucasian patients with type 2 diabetes mellitus". Endocrine. 16 (1): 39–42. doi:10.1385/ENDO:16:1:39. PMID 11822825. S2CID 30120853.
• Swierczynski J, Zabrocka L, Goyke E, Raczynska S, Adamonis W, Sledzinski Z (2003). "Enhanced glycerol 3-phosphate dehydrogenase activity in adipose tissue of obese humans". Mol. Cell. Biochem. 254 (1–2): 55–9. doi:10.1023/a:1027332523114. PMID 14674682. S2CID 25108711.
• Ou X, Ji C, Han X, Zhao X, Li X, Mao Y, Wong LL, Bartlam M, Rao Z (2006). "Crystal structures of human glycerol 3-phosphate dehydrogenase 1 (GPD1)". J. Mol. Biol. 357 (3): 858–69. doi:10.1016/j.jmb.2005.12.074. PMID 16460752.
• Park JJ, Berggren JR, Hulver MW, Houmard JA, Hoffman EP (2006). "GRB14, GPD1, and GDF8 as potential network collaborators in weight loss-induced improvements in insulin action in human skeletal muscle". Physiol. Genomics. 27 (2): 114–21. doi:10.1152/physiolgenomics.00045.2006. PMID 16849634.
• MacDonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG (2009). "Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes". Diabetologia. 52 (6): 1087–91. doi:10.1007/s00125-009-1319-6. PMC 2903059. PMID 19296078.
• Krasnov GS, Oparina NIu, Khankin SL, Mashkova TD, Ershov AN, Zatsepina OG, Karpov VL, Beresten' SF (2009). "[Colorectal cancer 2D-proteomics: identification of altered protein expression]". Mol. Biol. (Mosk.) (jezik: ruski). 43 (2): 348–56. doi:10.1134/s0026893309020186. PMID 19425502. S2CID 30196165.
• Guindalini C, Lee KS, Andersen ML, Santos-Silva R, Bittencourt LR, Tufik S (2010). "The influence of obstructive sleep apnea on the expression of glycerol-3-phosphate dehydrogenase 1 gene". Exp. Biol. Med. (Maywood). 235 (1): 52–6. doi:10.1258/ebm.2009.009150. PMID 20404019. S2CID 207194967.
• Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R (2012). "Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1". Am. J. Hum. Genet. 90 (1): 49–60. doi:10.1016/j.ajhg.2011.11.028. PMC 3257852. PMID 22226083.
• Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB (2014). "A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia". Eur. J. Hum. Genet. 22 (10): 1229–32. doi:10.1038/ejhg.2014.8. PMC 4169545. PMID 24549054.