Details for: GFPT1

Gene ID: 2673

Symbol: GFPT1

Ensembl ID: ENSG00000198380

Description: glutamine--fructose-6-phosphate transaminase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 2.27
    Marker Score: 2178.5
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 2.01
    Marker Score: 12802
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.96
    Marker Score: 717
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.95
    Marker Score: 6129
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.94
    Marker Score: 4411
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.9
    Marker Score: 4322
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.77
    Marker Score: 1032
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.69
    Marker Score: 2719
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.65
    Marker Score: 17082
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.65
    Marker Score: 32797
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.63
    Marker Score: 469
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.62
    Marker Score: 99647
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.61
    Marker Score: 672
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.59
    Marker Score: 58658
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.59
    Marker Score: 7620
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.53
    Marker Score: 13115
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.52
    Marker Score: 788
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.52
    Marker Score: 14427
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.51
    Marker Score: 747
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.51
    Marker Score: 14234
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.51
    Marker Score: 57342
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.5
    Marker Score: 51925
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.48
    Marker Score: 22113
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.48
    Marker Score: 2840
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.46
    Marker Score: 12713
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166899
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.45
    Marker Score: 5598
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.45
    Marker Score: 11079
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.43
    Marker Score: 3018
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.43
    Marker Score: 1174
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.43
    Marker Score: 1008
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.43
    Marker Score: 5810
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.4
    Marker Score: 4812
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.4
    Marker Score: 653
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.39
    Marker Score: 9029
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.38
    Marker Score: 772
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.37
    Marker Score: 5698
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.37
    Marker Score: 2434
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.36
    Marker Score: 2099
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.34
    Marker Score: 426
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.34
    Marker Score: 1333
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.33
    Marker Score: 1396
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.32
    Marker Score: 534
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.32
    Marker Score: 1515
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.32
    Marker Score: 639
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.31
    Marker Score: 21022
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.3
    Marker Score: 871
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.3
    Marker Score: 1869
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.29
    Marker Score: 3060
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 1.27
    Marker Score: 885
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.27
    Marker Score: 1535
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.26
    Marker Score: 2387
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.25
    Marker Score: 1563
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.23
    Marker Score: 2703.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.23
    Marker Score: 1809
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.22
    Marker Score: 845
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.19
    Marker Score: 445
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.18
    Marker Score: 2163
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.18
    Marker Score: 5469
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.18
    Marker Score: 560
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.17
    Marker Score: 1011
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.17
    Marker Score: 489
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.17
    Marker Score: 341
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.15
    Marker Score: 397
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.14
    Marker Score: 329
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.14
    Marker Score: 38691
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.11
    Marker Score: 251
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.11
    Marker Score: 321
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.1
    Marker Score: 303
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.09
    Marker Score: 411
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.08
    Marker Score: 1034
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.07
    Marker Score: 1255
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.07
    Marker Score: 1421
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.07
    Marker Score: 609
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.06
    Marker Score: 589
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.06
    Marker Score: 1138
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.05
    Marker Score: 16434
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.05
    Marker Score: 267
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.03
    Marker Score: 34731
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.03
    Marker Score: 1631
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.02
    Marker Score: 2741.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.02
    Marker Score: 1191
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.01
    Marker Score: 286
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 1
    Marker Score: 520
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71643
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1
    Marker Score: 4167.5
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.99
    Marker Score: 397
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47868
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.99
    Marker Score: 1031
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.99
    Marker Score: 5214
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.98
    Marker Score: 621
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.98
    Marker Score: 996
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.98
    Marker Score: 1083.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30377
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.97
    Marker Score: 3173
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.96
    Marker Score: 2417
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.95
    Marker Score: 649
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.95
    Marker Score: 1179
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.95
    Marker Score: 1339
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.94
    Marker Score: 356

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Other Information

**Key characteristics:** * It is an enzyme in the glycoprotein synthesis pathway. * It is a glycoprotein that is highly expressed in the human body. * It is involved in the biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, llo). * It is involved in the transfer of the llo to a nascent protein. **Pathways and functions:** * It is involved in the biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, llo). * It is involved in the transfer of the llo to a nascent protein. * It is involved in the regulation of protein metabolism. * It is involved in the regulation of inflammation. * It is involved in the regulation of cell growth and differentiation. **Clinical significance:** Defective GFPT1 causes cmsta1, a rare genetic disorder characterized by the accumulation of dolichol in the brain and other organs. This disorder is caused by mutations in the GFPT1 gene.

Genular Protein ID: 4206832459

Symbol: GFPT1_HUMAN

Name: Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1

UniProtKB Accession Codes:

Q06210 Q53QE6 Q9BXF8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 3 CPTAC 2 CTD 1 ChEBI 4 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 16 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1460020

Title: Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase.

PubMed ID: 1460020

DOI: 10.1016/s0021-9258(19)74026-5

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11679416

Title: A novel variant of glutamine:fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle.

PubMed ID: 11679416

DOI: 10.2337/diabetes.50.11.2419

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18318008

Title: Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.

PubMed ID: 18318008

DOI: 10.1002/pmic.200700884

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26887390

Title: Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.

PubMed ID: 26887390

DOI: 10.1093/glycob/cww019

PubMed ID: 19059404

Title: Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes.

PubMed ID: 19059404

DOI: 10.1016/j.febslet.2008.11.041

PubMed ID: 21310273

Title: Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

PubMed ID: 21310273

DOI: 10.1016/j.ajhg.2011.01.008

Sequence Information:

  • Length: 699
  • Mass: 78806
  • Checksum: F0533A7B762C7B98
  • Sequence:
    • MCGIFAYLNY HVPRTRREIL ETLIKGLQRL EYRGYDSAGV GFDGGNDKDW EANACKIQLI 
KKKGKVKALD EEVHKQQDMD LDIEFDVHLG IAHTRWATHG EPSPVNSHPQ RSDKNNEFIV 
IHNGIITNYK DLKKFLESKG YDFESETDTE TIAKLVKYMY DNRESQDTSF TTLVERVIQQ 
LEGAFALVFK SVHFPGQAVG TRRGSPLLIG VRSEHKLSTD HIPILYRTAR TQIGSKFTRW 
GSQGERGKDK KGSCNLSRVD STTCLFPVEE KAVEYYFASD ASAVIEHTNR VIFLEDDDVA 
AVVDGRLSIH RIKRTAGDHP GRAVQTLQME LQQIMKGNFS SFMQKEIFEQ PESVVNTMRG 
RVNFDDYTVN LGGLKDHIKE IQRCRRLILI ACGTSYHAGV ATRQVLEELT ELPVMVELAS 
DFLDRNTPVF RDDVCFFLSQ SGETADTLMG LRYCKERGAL TVGITNTVGS SISRETDCGV 
HINAGPEIGV ASTKAYTSQF VSLVMFALMM CDDRISMQER RKEIMLGLKR LPDLIKEVLS 
MDDEIQKLAT ELYHQKSVLI MGRGYHYATC LEGALKIKEI TYMHSEGILA GELKHGPLAL 
VDKLMPVIMI IMRDHTYAKC QNALQQVVAR QGRPVVICDK EDTETIKNTK RTIKVPHSVD 
CLQGILSVIP LQLLAFHLAV LRGYDVDFPR NLAKSVTVE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.