Homo sapiens glucose phosphate isomerase (GPI)
Summary: This gene belongs to the GPI family whose members encode multifunctional phosphoglucose isomerase proteins involved in energy pathways. The protein encoded by this gene is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. The protein functions in different capacities inside and outside the cell. In the cytoplasm, the gene product is involved in glycolysis and gluconeogenesis, while outside the cell it functions as a neurotrophic factor for spinal and sensory neurons. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment.
摘要：以下基因属于GPI家族中与能量路径有关的多重葡萄糖异构酶蛋白。此蛋白能解码成二种能互相转换的6磷酸葡萄糖和6磷酸果糖。GPI蛋白内外核的作用各不相同。在细胞质内，基因产物与糖酵解和糖的生成有关，而基因外部，对于脊骨和感官神经元，则起了神经因子的作用。本基因的缺失可引起红细胞缺乏的溶血性贫血症并且严重的缺失将与胎儿水肿，新生儿死亡和神经上的损伤有关。
GPI peptide amino acid sequence:
GPI肽氨基酸序列：
“MAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTL
NTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVA
LRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGS
DLGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQET
ITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWVGGRYSL
WSAIGLSIALHVGFDNFEQLLSGAHWMDQHFRTTPLEKNAPVLLALLGIWYINCFGCE
THAMLPYDQYLHRFAAYFQQGDMESNGKYITKSGTRVDHQTGPIVWGEPGTNGQHAFY
QLIHQGTKMIPCDFLIPVQTQHPIRKGLHHKILLANFLAQTEALMRGKSTEEARKELQ
AAGKSPEDLERLLPHKVFEGNRPTNSIVFTKLTPFMLGALVAMYEHKIFVQGIIWDIN
SFDQWGVELGKQLAKKIEPELDGSAQVTSHDASTNGLINFIKQQREARVQ”
Human Chromosome position:
人染色体位置
map="19q13.1"
GPI cDNA sequence (2075 bp):
GPI染色体DNA序列
1 gccataaagg ccgccgcgcg cccacgcgcc tcgcttgctg cgcgctgccg gcgctccttc
61 ctcctcggct cgcgtctcac tcagtgtacc ttctagtccc gccatggccg ctctcacccg
121 ggacccccag ttccagaagc tgcagcaatg gtaccgcgag caccgctccg agctgaacct
181 gcgccgcctc ttcgatgcca acaaggaccg cttcaaccac ttcagcttga ccctcaacac
241 caaccatggg catatcctgg tggattactc caagaacctg gtgacggagg acgtgatgcg
301 gatgctggtg gacttggcca agtccagggg cgtggaggcc gcccgggagc ggatgttcaa
361 tggtgagaag atcaactaca ccgagggtcg agccgtgctg cacgtggctc tgcggaaccg
421 gtcaaacaca cccatcctgg tagacggcaa ggatgtgatg ccagaggtca acaaggttct
481 ggacaagatg aagtctttct gccagcgtgt ccggagcggt gactggaagg ggtacacagg
541 caagaccatc acggacgtca tcaacattgg cattggcggc tccgacctgg gacccctcat
601 ggtgactgaa gcccttaagc catactcttc aggaggtccc cgcgtctggt atgtctccaa
661 cattgatgga actcacattg ccaaaaccct ggcccagctg aaccccgagt cctccctgtt
721 catcattgcc tccaagacct ttactaccca ggagaccatc acgaatgcag agacggcgaa
781 ggagtggttt ctccaggcgg ccaaggatcc ttctgcagtg gcgaagcact ttgttgccct
841 gtctactaac acaaccaaag tgaaggagtt tggaattgac cctcaaaaca tgttcgagtt
901 ctgggattgg gtgggaggac gctactcgct gtggtcggcc atcggactct ccattgccct
961 gcacgtgggt tttgacaact tcgagcagct gctctcgggg gctcactgga tggaccagca
1021 cttccgcacg acgcccctgg agaagaacgc ccccgtcttg ctggccctgc tgggtatctg
1081 gtacatcaac tgctttgggt gtgagacaca cgccatgctg ccctatgacc agtacctgca
1141 ccgctttgct gcgtacttcc agcagggcga catggagtcc aatgggaaat acatcaccaa
1201 atctggaacc cgtgtggacc accagacagg ccccattgtg tggggggagc cagggaccaa
1261 tggccagcat gctttttacc agctcatcca ccaaggcacc aagatgatac cctgtgactt
1321 cctcatcccg gtccagaccc agcaccccat acggaagggt ctgcatcaca agatcctcct
1381 ggccaacttc ttggcccaga cagaggccct gatgagggga aaatcgacgg aggaggcccg
1441 aaaggagctc caggctgcgg gcaagagtcc agaggacctt gagaggctgc tgccacataa
1501 ggtctttgaa ggaaatcgcc caaccaactc tattgtgttc accaagctca caccattcat
1561 gcttggagcc ttggtcgcca tgtatgagca caagatcttc gttcagggca tcatctggga
1621 catcaacagc tttgaccagt ggggagtgga gctgggaaag cagctggcta agaaaataga
1681 gcctgagctt gatggcagtg ctcaagtgac ctctcacgac gcttctacca atgggctcat
1741 caacttcatc aagcagcagc gcgaggccag agtccaataa actcgtgctc atctgcagcc
1801 tcctctgtga ctcccctttc tcttctcgtc cctcctcccc ggagccggca ctgcatgttc
1861 ctggacacca cccagagcac cctctggttg tgggcttgga ccacgagccc ttagcaggga
1921 aggctggtct cccccagcct aacccccagc ccctccatgt ctatgctccc tctgtgttag
1981 aattggctga agtgtttttg tgcagctgac ttttctgacc catgttcacg ttgttcacat
2041 cccatgtaga aaaataaaga tgccacggag gaggt
