GFAT entsyymi siirtää aminohaposta amidiryhmän typpeä fruktoosi-6- fosfaattiin , joka on muodsotunut glukoosi-6-fosfaatista ( fosforyloituneesta soluun siirtyneestä verensokerista)
.nihhttps://www.ncbi.nlm.gov/gene/9945
- Preferred Names
- glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2
- Names
- D-fructose-6-phosphate amidotransferase 2
- glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2
- glutamine: fructose-6-phosphate aminotransferase 2
- glutamine:fructose-6-phosphate amidotransferase 2
- hexosephosphate aminotransferase 2
entsyymin konservoituneista domeeneista
- (4) summary
-
- PLN02981
Location:1 → 682
- PLN02981; glucosamine:fructose-6-phosphate aminotransferase
- cd00714
Location:2 → 285
- GFAT; Glutamine amidotransferases
class-II (Gn-AT)_GFAT-type. This domain is found at the N-terminus of
glucosamine-6P synthase (GlmS, or GFAT in humans). The glutaminase
domain catalyzes amide nitrogen transfer from glutamine to the
appropriate substrate. In ...
- cd05008
Location:369 → 494
- SIS_GlmS_GlmD_1; SIS (Sugar
ISomerase) domain repeat 1 found in Glucosamine 6-phosphate synthase
(GlmS) and Glucosamine-6-phosphate deaminase (GlmD). The SIS domain is
found in many phosphosugar isomerases and phosphosugar binding proteins.
GlmS contains a N-terminal ...
- cd05009
Location:526 → 680
- SIS_GlmS_GlmD_2; SIS (Sugar
ISomerase) domain repeat 2 found in Glucosamine 6-phosphate synthase
(GlmS) and Glucosamine-6-phosphate deaminase (GlmD). The SIS domain is
found in many phosphosugar isomerases and phosphosugar binding proteins.
GlmS contains a N-terminal ...
Related articles in PubMed
-
Glutamine
fructose-6-phosphate amidotransferase (GFAT) gene expression and
activity in patients with type 2 diabetes: inter-relationships with
hyperglycaemia and oxidative stress.
Srinivasan V, et al. Clin Biochem, 2007 Sep. PMID 17574229
-
Common
variants in glutamine:fructose-6-phosphate amidotransferase 2 (GFPT2)
gene are associated with type 2 diabetes, diabetic nephropathy, and
increased GFPT2 mRNA levels.
Zhang H, et al. J Clin Endocrinol Metab, 2004 Feb. PMID 14764791
-
Hexosamine
biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the
maintenance of UDP-GlcNAc content and hyaluronan synthesis.
Oikari S, et al. Glycobiology, 2016 Jul. PMID 26887390
-
Association
analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms
with chronic renal insufficiency among Asian Indians with type-2
diabetes.
Prasad P, et al. BMC Med Genet, 2010 Mar 31. PMID 20353610, Free PMC Article
-
Genes
linked to energy metabolism and immunoregulatory mechanisms are
associated with subcutaneous adipose tissue distribution in HIV-infected
men.
Irvin MR, et al. Pharmacogenet Genomics, 2011 Dec. PMID 21897333, Free PMC Article
GeneRIFs: Gene References Into Functions
-
GNPDA1
siRNA induced GFAT2 which was hardly measurable in these cells under
standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1
siRNA increased the expression of hyaluronan synthase 2 (HAS2).
Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell
migration.
-
association
of nine single nucleotide polymorphisms in ADPRT1, AKR1B1), RAGE, GFPT2
and PAI-1 genes with chronic renal insufficiency among Asian Indians
with type 2 diabetes
-
Observational study of gene-disease association. (HuGE Navigator)
-
Increased
GFAT activity appears to be associated with insulin resistance,
postprandial hyperglycaemia and oxidative stress in T2DM and may point
towards a potential pathway amenable for therapeutic intervention.
-
GFPT2
mRNA levels in transformed lymphocytes significantly increased among
African-Americans. Associated allele of 3' UTR SNP approximately 2-fold
overexpressed. 3' UTR variant results in increased GFPT2 mRNA with
resultant increased hexosamine flux
Entzyme history, structure, sequence.
References.
Ref. 1. (2016)Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA
enzymes in the maintenance of UDP-GlcNAc content and hyaluronan
synthesis
GeneRIF: GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions,
GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of
hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration.
Ref. 2.(2016) Widespread Expansion of Protein Interaction Capabilities by
Alternative Splicing
Ref. 3. (2011) Genes linked to energy metabolism and immunoregulatory
mechanisms are associated with subcutaneous adipose tissue distribution in
HIV-infected men
Ref. 4. (2011) TITLE Genome-wide YFP fluorescence complementation
screen identifies new regulators for telomere signaling in human cells
Ref. 5.(2010) Hundreds of variants clustered in genomic loci and biological
pathways affect human height
Ref. 6.(2010)TITLE Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2
and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian
Indians with type-2 diabets REMARK GeneRIF: association of nine single nucleotide polymorphisms in
ADPRT1, AKR1B1), RAGE, GFPT2 and PAI-1 genes with chronic renalinsufficiency
among Asian Indians with type 2 diabetes
Ref. 7.(2007) TITLE Glutamine fructose-6-phosphate amidotransferase (GFAT)
gene expression and activity in patients with type 2 diabetes:
inter-relationships with hyperglycaemia and oxidative stress GeneRIF:
Increased GFAT activity appears to be associated with
insulin resistance, postprandial hyperglycaemia and oxidative
stress in T2DM and may point towards a potential pathway amenable
for therapeutic intervention.
Ref. 8.(2007) Mutations in gfpt1 and skiv2l2 cause distinct stage-specific
defects in larval melanocyte regeneration in zebrafish .
Ref. 9.(2004) Common variants of gene associated to Diabetes mellitus type 2.
Ref. 10.(1999): Cloning and mapping of gene GFPT2 from mouse and human.
LOCUS NP_005101 682 aa linear PRI 23-NOV-2018
DEFINITION glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2
[Homo sapiens].
ACCESSION NP_005101
VERSION NP_005101.1
DBSOURCE REFSEQ: accession NM_005110.4
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 682)
AUTHORS Oikari S, Makkonen K, Deen AJ, Tyni I, Karna R, Tammi RH and Tammi
MI.
TITLE Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA
enzymes in the maintenance of UDP-GlcNAc content and hyaluronan
synthesis
JOURNAL Glycobiology 26 (7), 710-722 (2016)
PUBMED 26887390
REMARK GeneRIF: GNPDA1 siRNA induced GFAT2 which was hardly measurable in
these cells under standard culture conditions, GNPDA2 siRNA
increased GFAT1, and GFAT1 siRNA increased the expression of
hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1
and GDPDA2, and inhibited cell migration.
REFERENCE 2 (residues 1 to 682)
AUTHORS Yang X, Coulombe-Huntington J, Kang S,et al.
TITLE Widespread Expansion of Protein Interaction Capabilities by
Alternative Splicing
JOURNAL Cell 164 (4), 805-817 (2016)
PUBMED 26871637
REFERENCE 3 (residues 1 to 682)
AUTHORS Irvin MR, Shrestha S, Chen YD, Wiener HW, Haritunians T, Vaughan
LK, Tiwari HK, Taylor KD, Scherzer R, Saag MS, Grunfeld C, Rotter
JI and Arnett DK.
TITLE Genes linked to energy metabolism and immunoregulatory mechanisms
are associated with subcutaneous adipose tissue distribution in
HIV-infected men
JOURNAL Pharmacogenet. Genomics 21 (12), 798-807 (2011)
PUBMED 21897333
REFERENCE 4 (residues 1 to 682)
AUTHORS Lee OH, Kim H, He Q, Baek HJ, Yang D, Chen LY, Liang J, Chae HK,
Safari A, Liu D and Songyang Z.
TITLE Genome-wide YFP fluorescence complementation screen identifies new
regulators for telomere signaling in human cells
JOURNAL Mol. Cell Proteomics 10 (2), M110.001628 (2011)
PUBMED 21044950
REFERENCE 5 (residues 1 to 682)
AUTHORS Lango Allen H, Estrada K et al.
TITLE Hundreds of variants clustered in genomic loci and biological
pathways affect human height
JOURNAL Nature 467 (7317), 832-838 (2010)
PUBMED 20881960
REFERENCE 6 (residues 1 to 682)
AUTHORS Prasad P, Tiwari AK, Kumar KM, Ammini AC, Gupta A, Gupta R and
Thelma BK.
TITLE Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene
polymorphisms with chronic renal insufficiency among Asian Indians
with type-2 diabetes
JOURNAL BMC Med. Genet. 11, 52 (2010)
PUBMED 20353610
REMARK GeneRIF: association of nine single nucleotide polymorphisms in
ADPRT1, AKR1B1), RAGE, GFPT2 and PAI-1 genes with chronic renal
insufficiency among Asian Indians with type 2 diabetes
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 7 (residues 1 to 682)
AUTHORS Srinivasan V, Sandhya N, Sampathkumar R, Farooq S, Mohan V and
Balasubramanyam M.
TITLE Glutamine fructose-6-phosphate amidotransferase (GFAT) gene
expression and activity in patients with type 2 diabetes:
inter-relationships with hyperglycaemia and oxidative stress
JOURNAL Clin. Biochem. 40 (13-14), 952-957 (2007)
PUBMED 17574229
REMARK GeneRIF: Increased GFAT activity appears to be associated with
insulin resistance, postprandial hyperglycaemia and oxidative
stress in T2DM and may point towards a potential pathway amenable
for therapeutic intervention.
REFERENCE 8 (residues 1 to 682)
AUTHORS Yang CT, Hindes AE, Hultman KA and Johnson SL.
TITLE Mutations in gfpt1 and skiv2l2 cause distinct stage-specific
defects in larval melanocyte regeneration in zebrafish
JOURNAL PLoS Genet. 3 (6), e88 (2007)
PUBMED 17542649
REFERENCE 9 (residues 1 to 682)
AUTHORS Zhang H, Jia Y, Cooper JJ, Hale T, Zhang Z and Elbein SC.
TITLE Common variants in glutamine:fructose-6-phosphate amidotransferase
2 (GFPT2) gene are associated with type 2 diabetes, diabetic
nephropathy, and increased GFPT2 mRNA levels
JOURNAL J. Clin. Endocrinol. Metab. 89 (2), 748-755 (2004)
PUBMED 14764791
REMARK GeneRIF: GFPT2 mRNA levels in transformed lymphocytes significantly
increased among African-Americans. Associated allele of 3' UTR SNP
approximately 2-fold overexpressed. 3' UTR variant results in
increased GFPT2 mRNA with resultant increased hexosamine flux.
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 10 (residues 1 to 682)
AUTHORS Oki T, Yamazaki K, Kuromitsu J, Okada M and Tanaka I.
TITLE cDNA cloning and mapping of a novel subtype of
glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human
and mouse
JOURNAL Genomics 57 (2), 227-234 (1999)
PUBMED 10198162
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BI753491.1, AB016789.1, AK022507.1 and BC000012.2.
##Evidence-Data-START##
Transcript exon combination :: AK022507.1, SRR1803616.184569.1
[ECO:0000332]
RNAseq introns :: mixed/partial sample support
SAMEA1965299, SAMEA1966682
[ECO:0000350]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..682
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q35.3"
Protein 1..682
/product="glutamine--fructose-6-phosphate aminotransferase
[isomerizing] 2"
/EC_number="2.6.1.16"
/note="glutamine: fructose-6-phosphate aminotransferase 2;
glucosamine--fructose-6-phosphate aminotransferase
[isomerizing] 2; hexosephosphate aminotransferase 2;
D-fructose-6-phosphate amidotransferase 2;
glutamine:fructose-6-phosphate amidotransferase 2"
/calculated_mol_wt=76800
Region 1..682
/region_name="PLN02981"
/note="glucosamine:fructose-6-phosphate aminotransferase"
/db_xref="CDD:215531"
Region 2..285
/region_name="GFAT"
/note="Glutamine amidotransferases class-II
(Gn-AT)_GFAT-type. This domain is found at the N-terminus
of glucosamine-6P synthase (GlmS, or GFAT in humans). The
glutaminase domain catalyzes amide nitrogen transfer from
glutamine to the appropriate substrate. In...; cd00714"
/db_xref="CDD:238366"
Site order(2,33,92..93,95..96,105,120..121,145..146)
/site_type="active"
/note="glutaminase active site [active]"
/db_xref="CDD:238366"
Site 244
/site_type="other"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine. {ECO:0000244|PubMed:23186163};
propagated from UniProtKB/Swiss-Prot (O94808.3)"
Region 369..494
/region_name="SIS_GlmS_GlmD_1"
/note="SIS (Sugar ISomerase) domain repeat 1 found in
Glucosamine 6-phosphate synthase (GlmS) and
Glucosamine-6-phosphate deaminase (GlmD). The SIS domain
is found in many phosphosugar isomerases and phosphosugar
binding proteins. GlmS contains a N-terminal...; cd05008"
/db_xref="CDD:240141"
Site order(375..376,386..387,390..391,398,400,404,407,429)
/site_type="other"
/note="dimer interface [polypeptide binding]"
/db_xref="CDD:240141"
Site order(377..378,422..424)
/site_type="active"
/db_xref="CDD:240141"
Region 377..378
/region_name="Substrate-binding.
{ECO:0000250|UniProtKB:Q06210}"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O94808.3)"
Region 422..424
/region_name="Substrate-binding.
{ECO:0000250|UniProtKB:Q06210}"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O94808.3)"
Region 526..680
/region_name="SIS_GlmS_GlmD_2"
/note="SIS (Sugar ISomerase) domain repeat 2 found in
Glucosamine 6-phosphate synthase (GlmS) and
Glucosamine-6-phosphate deaminase (GlmD). The SIS domain
is found in many phosphosugar isomerases and phosphosugar
binding proteins. GlmS contains a N-terminal...; cd05009"
/db_xref="CDD:240142"
Site order(547,561,565,567,569,571,575,577..579,581..584,
601..602,606,608..609,673..674,679)
/site_type="other"
/note="dimer interface [polypeptide binding]"
/db_xref="CDD:240142"
Site order(559,562)
/site_type="active"
/db_xref="CDD:240142"
CDS 1..682
/gene="GFPT2"
/gene_synonym="GFAT; GFAT 2; GFAT2"
/coded_by="NM_005110.4:120..2168"
/db_xref="CCDS:CCDS43411.1"
/db_xref="GeneID:9945"
/db_xref="HGNC:HGNC:4242"
/db_xref="MIM:603865"
ORIGIN
1 mcgifaymny rvprtrkeif etlikglqrl eyrgydsagv aidgnnhevk erhiqlvkkr
61 gkvkaldeel ykqdsmdlkv efethfgiah trwathgvps avnshpqrsd kgnefvvihn
121 giitnykdlr kfleskgyef esetdtetia klikyvfdnr eteditfstl verviqqleg
181 afalvfksvh ypgeavatrr gsplligvrs kyklsteqip ilyrtctlen vknicktrmk
241 rldssaclha vgdkavefff asdasaiieh tnrvifledd diaavadgkl sihrvkrsas
301 ddpsraiqtl qmelqqimkg nfsafmqkei feqpesvfnt mrgrvnfetn tvllgglkdh
361 lkeirrcrrl ivigcgtsyh aavatrqvle eltelpvmve lasdfldrnt pvfrddvcff
421 isqsgetadt llalryckdr galtvgvtnt vgssisretd cgvhinagpe igvastkayt
481 sqfislvmfg lmmsedrisl qnrrqeiirg lrslpelike vlsleekihd lalelytqrs
541 llvmgrgyny atclegalki keitymhseg ilagelkhgp lalidkqmpv imvimkdpcf
601 akcqnalqqv tarqgrpiil cskddtessk fayktielph tvdclqgils viplqllsfh
661 lavlrgydvd fprnlaksvt ve
//
